Archive for the ‘Genetic Testing’ Category

A new tool that uses artificial intelligence (AI) to analyze healthcare records may aid in the early diagnosis of fragile X syndrome, a new study reports.

By incorporating a combination of co-occurring conditions, an AI-assisted pre-screening tool was developed and validated to identify potential cases at least 5 years earlier than the time of clinical diagnosis, the researchers wrote.

The scientists said their AI tool was used successfully to analyze a healthcare database in the U.S. state of Wisconsin. Moving forward, this artificial intelligence-based program could be used across other healthcare databases to better and potentially much sooner identify individuals who may be affected by fragile X.

Our AI-assisted pre-screening approach can facilitate and accelerate the clinical diagnosis of [fragile X syndrome] and decrease the duration of the diagnostic odyssey and degree of stress experienced by patients and their families, the team wrote.

One concern in the move forward is that the AI tool thus far was only used in healthcare systems that were predominately comprised of white patients. More testing and validation is needed in other racial and ethnic patient populations, the researchers said.

The study, Advancing artificial intelligence-assisted pre-screening for fragile X syndrome, was published inBMC Medical Informatics and Decision Making.

Fragile X syndrome can manifest very differently from person to person, which makes diagnosing the genetic disorder a challenge. Studies have shown a marked gap between the estimated prevalence of fragile X and the actual number of people diagnosed suggesting that as many as 70% of people affected by fragile X syndrome have not been properly diagnosed.

To bridge that gap, a team led by scientists at the University of Wisconsin-Madison created an artificial intelligence tool aimed at better diagnosing fragile X syndrome. This tool is applied to data that is routinely collected in electronic healthcare records (EHRs).

Their aim was to identify data in such EHRs that could predict the diagnosis of fragile X, even before the disorder itself is formally diagnosed.

The pre-screening model is not intended to be a replacement for genetic testing, but it can serve as a tool to automatically alert physicians about the presence of multiple [fragile X syndrome]-related phenotypes in the patients medical records, the scientists wrote.

By prompting the physician to further evaluate such individuals and refer them for genetic testing and counseling, our approach could accelerate the diagnostic process and be instrumental in identifying un-diagnosed individuals in the population and addressing their health conditions, the team wrote.

To create the tool, the team used EHR data collected from 1979 to 2018 served by the Marshfield Clinic Health System in Wisconsin.

From the data, the team identified 55 people who had been diagnosed with fragile X syndrome at an age of 10 or older. The scientists also used data from 5,500 people without a fragile X diagnosis, who were similar to the patients in terms of age and sex.

For all of these patients, the researchers extracted data from five years before the formal diagnosis of fragile X syndrome, or the equivalent ages for controls.

All data used in this study are directly collected in a medical setting and are in fact real world data from actual patients, providing further proof of [the AI tools] potential utility in real world clinical applications, the team noted.

With these data in hand, the researchers then trained their artificial intelligence algorithm using a mathematical strategy called random forest. Conceptually, the AI tool uses a set of mathematical rules to look for patterns in the diagnostic codes that could differentiate between people with or without fragile X syndrome.

To test the utility of the trained algorithm, the scientists tested it on data collected from UW Health, a separate healthcare system in Wisconsin.

Our next step, reported here for the first time, was to evaluate the performance of this model in a new unseen dataset, i.e., an external validation study, they wrote.

In this dataset, the team identified data for 52 fragile X cases and 5,200 people without the disorder, matched for sex and age.

To test the tools accuracy, the researchers calculated a statistical measurement called the area under the receiver operating characteristic curve, or AUROC. This is basically a measurement of how well a test can tell the difference between two groups i.e., fragile X or not. AUROC values can range from 0.5 to 1, with higher values suggesting better ability to discriminate.

In the original Marshfield dataset, the AUROC for the AI tool was 0.798. In the UW Health analysis, it was 0.795.

The AUROCs of the predictive models created and evaluated using the Marshfield cases and the UW Health cases were almost identical (0.798 vs. 0.795), representing the high level of reproducibility of results in different health care systems, the scientists wrote.

Our AI-assisted pre-screening tool could significantly improve the diagnostic process and could provide substantial benefits for patients, families and the health care system, they concluded.

A noted limitation of this analysis was that nearly 90% of patients in both healthcare systems were white. The researchers highlighted a need to further validate this model in other populations, especially those of non-European ancestry.

Additional studies on larger populations will provide more precise information on the performance of the model, they wrote.

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Artificial Intelligence Tool May Help in Early Diagnosis of... - Fragile X News Today

The discovery of a pig carcass on national forest land near Lake Koocanusa has prompted the Montana Department of Livestock, Montana Invasive Species Council, and USDA-APHIS Wildlife Services to hold public meetings about feral swine in Eureka and Libby on Thursday, Sept. 22.

The Libby meeting will be held at 1 p.m. in the Ponderosa Room at Libby City Hall.

While the carcass has not been confirmed as a feral pig, it has features often found in feral swine. The animal could also be a heritage breed of swine that looks similar.

The meetings will cover Montana laws restricting feral swine in the state, identifying signs and damage, and how to report sightings.

The Eureka meeting will be held at 6:30 p.m. at the Timbers Lodge (101 Julian Drive).

In August, the Department of Livestock received a report of a dead pig on Forest Service land west of Lake Koocanusa.

Canvassing of the area has failed to locate an owner of the animal. The investigation is ongoing, including genetic testing, but results wont be available for several weeks and may not be successful due to the decomposed state of the carcass.

Feral swine are an invasive species that pose a serious threat to Montanas agriculture, livestock, wildlife and landscapes.

Officials are asking the public to be on the lookout for feral swine or wild pigs and to report sightings to 406-444-2976.

While feral swine are not yet in Montana, we are aware of their expanding range in Canada and the risk of introduction through natural animal movement, escape of domestic animals, or deliberate release, said Tahnee Szymanski, Assistant State Veterinarian with the Department of Livestock, In coordination with our partners, we are working hard to prevent feral swine introduction.

For more information about feral swine and the Squeal on Pigs campaign go to squealonpigsmt.com.

For more information about these meetings contact the Montana Invasive Species Council at 406-444-0547.

The mission of the Montana Department of Livestock is to control and eradicate animal diseases, prevent the transmission of animal diseases to humans, and to protect the livestock industry from theft and predatory animals.

For more information on the Montana Department of Livestock, visit liv.mt.gov.

Original post:
Feral swine meetings Thursday in Eureka and Libby - The Western News

AGARWAL: How did decide on the treatment path you did?

Chowdhury: I have been involved in the TITAN study [NCT02489318] as one of the clinical chairs, so I have [vast] experience with apalutamide.1 We know that a significant subgroup in the TITAN study [benefited from therapy] and we know that that subgroup continued to show a benefit. This is a very reasonable treatment. The best evidence [from TITAN] supports apalutamide, and enzalutamide [Xtandi] is supported by the ARCHES study [NCT02677896], and both are very reasonable treatments.2 Certainly in my own practice, we have a lot of experience with apalutamide from TITAN for routine clinical practice. We also use the drug in nonmetastatic [castration-sensitive prostate cancer (CSPC) based on results from the phase 3 SPARTAN trial (NCT01946204)]. Doublets rather than ADT alone have been shown to produce a significant benefit, and sometimes we underestimate that. [This patient] has a poor prognosis and high-volume disease; he isnt someone with a super scan and a PSA level of several hundred ng/mL. Sometimes we can underestimate the disease and the lethality of disease in a man who has many years to live and is young.

Agarwal: How do you determine a treatment based on the available options for a certain patient?

Liaw: [The results of] multiple studies have shown us that moving some of the drugs that we once reserved for castration-resistant disease into the hormone-sensitive metastatic setting gives us a much more augmented long-term disease benefit in terms of disease control and overall survival [OS] benefit. I will talk to a patient who has high-volume disease about 4 options: docetaxel; apalutamide, such as what was done for this particular patient; abiraterone [Zytiga]; and enzalutamide. In someone who might have low-volume disease, sometimes theres a good discussion as to whether we do prostate radiation. In this case, he doesnt have a prostate anymore, so we wouldnt talk about that. But for de novo metastatic low-volume disease, you might think about that.

Often patients question how we choose among these 4 agents to use for systemic therapy, and no one necessarily has the right answer. Many times, it does come down to the patient themselves and their characteristics. In a patient like this who otherwise has an excellent performance status, is young, and has very few comorbidities, hes [a candidate] for all treatment options, vs some patients who might have more issues with steroid use, which would make things like abiraterone a bit harder for us to challenge them with. Patients who have hepatic or renal insufficiency might not be quite as good candidates for chemotherapy. One last thing that sometimes comes into the mix is cost issues with medications. For drugs like abiraterone which are off patent at this point, the price point might be more attractive, vs a drug like enzalutamide or apalutamide that is still branded.

Agarwal: How do you decide among the 4 options to treat prostate cancer?

Lowentritt: In 2019, apalutamide and enzalutamide got their approvals in the metastatic CSPC [mCSPC] space.3,4 Until then, only chemotherapy and abiraterone were available, and only 30% of people received abiraterone, so you still had the vast majority of people getting ADT alone. When I see my patients today and I talk to my partners and colleagues, its important to get to that first level of understanding that we need to intensify their therapy. Plenty of evidence shows that the standard of care [SOC] has long evolved past ADT alone. When Im talking to my patients now with a menu of offerings, I still do counsel them and encourage them. It is very clear that an oral option is often favored, although [in the future,] ways will evolve where theyre not necessarily mutually exclusive.

Abiraterone is still a wonderful medication because the exposure is a little bit longer in this part of the disease state, and patients will be on this for a longer period. Theres a slight concern about chronic steroid use in these patients. I dont know if that weighs heavier than the other concerns about chronic exposure to these medications on other systems in the body, but thats a component of it. Theres also a considerable cost-saving for patients who will be on drugs for a long time, so I definitely consider abiraterone as an excellent option. I have used both other options that are approved, apalutamide and enzalutamide, in this space, and there are differences. I tend to avoid enzalutamide in my elderly patients. My personal experience is there can be some increased level of problems with equilibrium or memory or just word finding for those patients over the long haul. I do think we have to recognize that this will be a longer course of therapy. Thankfully theyre all successful in extending life and having a long course, so I have these discussions [with my patients]. I try to do personal assessments, and there are some drug-drug interactions, although theyre minimal. Thyroid disease is more of a unique marker for apalutamide, but it generally occurs as small incidents and is easily managed. I have these discussions, but it ends up being a personal choice based on a lot of individual patient factors.

Agarwal: How do drug interactions play a role in your clinic? When do you decide to switch an anticoagulant rather than the prostate cancer treatment?

Liaw: In my personal practice, we do run into drug interactions here and there. It usually boils down to what options we have for anticoagulants and for treatment of prostate cancer. If their need for coagulation is a much more urgent issue, like in someone who has a saddle embolism, Im not touching their anticoagulant. Its more of an issue and is my bigger priority. For prostate cancer, if there are other equally suitable options and I can easily make a substitution, Im willing to do so if its a drug interaction issue. I dont come up against these tough decisions daily, but here and there we do have to make a decision to switch away from one drug to another.

Agarwal: When looking at the quality of life, why choose ADT plus apalutamide?

Chowdhury: For quality of life, we look at the studies, personal experiences, and at the patient in front of usand sometimes we underestimate how scary it is for a patient faced with metastatic disease. Patients like this want the best treatment. Sometimes because ADT works well, its an active treatment. Its among the most active treatments we have in solid tumor oncology. We focus on the current outlook rather than thinking about whats coming for the patient in a relatively short period of time. We see that [progression-free survival] on ADT alone is 12 to 18 months, and its shorter in terms of PSA, which obviously drives decision-making anxiety and treatment change. What I discuss with them are the data.

I honestly believe ADT is an elephant in the room. In the [United Kingdom], we underestimate toxicity to the detriment of our patients. Going forward, particularly in patients with lower-volume disease and good responses. Im hoping well see the escalation of therapy, particularly ADT, and get men on single-agent AR [androgen receptor] inhibitors, although that is not [an approved indication].

Something that weve talked about quite a lot in studies such as TITAN, ARCHES, and ARASEN [NCT02799602] is that PSA was blinded to patients and investigators.5 The benefit of PSA psychologically is massive for patients. When patients walk into our clinic room, one of the first, if not the first, question is about PSA. PSA is critical and PSA responsesthe depth, duration, and how that also ties in with the quality of lifeare important. For me, apalutamide and darolutamide [Nubeqa] are both good drugs. I chose apalutamide because of my experience in TITAN.

Agarwal: Why did you choose to use triplet therapy for this patient?

Liaw: In a case like this, we have many of the same options that we spoke about earlier in terms of doublet therapy. One thing to highlight is that this is a patient who has come in with de novo disease, which typically has a worse prognosis vs [a case where] metastatic recurrence has come back on the metachronous end. We want to put our best foot forward, so to speak. He is a 59-year-old patient who is otherwise independent with no medical issues, and he is also highly symptomatic. He has already had a pathologic fracture. His PSA numbers are tremendously elevated. Everything leads to not just high-volume disease, but many aspects of this disease that are high risk as well.

Data that support the use of triplet regimens like ADT, docetaxel, and abirateronea regimen that was championed in the PEACE-1 study [NCT01957436]and the backdrop of understanding the [benefit of] adding an additional layer of intensification to doublet combination therapy have led to success across all the different agents for mCSPC.6 [The PEACE-1] study looked to push that envelope a little bit further by adding on a third agent. We know that prostate cancer has some intrinsic heterogeneity. There will be some early clones that are more inherently insensitive or resistant to ADT, or maybe AR-directed therapy, through mechanisms such as AR variants or alterations. Trying to have something in the chemotherapy category as well as the AR-directed category, investigators hoped to show that a triplet regimen would elevate survival on top of just ADT plus docetaxel alone.

PEACE-1 has an interesting study design; it evolved as the SOC evolved. It was initially designed as a large randomized study to test whether the addition of abiraterone or radiation therapy, or the combination of both, to the SOC of ADT would benefit men with hormone-sensitive prostate cancer. However, [the SOC changed] as data from the CHAARTED trial [NCT00309985] and the STAMPEDE trial [NCT00268476] came out showing the additional benefits of docetaxel.7,8 [PEACE-1] laid out a prespecified statistical plan that provides for primary efficacy analysis of survival with the addition of abiraterone to the docetaxel-treated population. This study was very positive, but more to our point, the triplet regimen focused on the population of patients who got both ADT and docetaxel as part of the SOC. The addition of abiraterone demonstrated significant improvement in OS with a hazard ratio of 0.75 [95% CI, 0.59-0.95; P = .017]. This positive effect on OS was primarily pronounced in the patients with high-volume disease. The addition of abiraterone to hormonal therapy [must be] seriously considered because it is linked to a survival benefit.

Agarwal: As a urologist, how do you choose between doublet and triplet therapy?

Lowentritt: The latest data indicate that only about 3% of [patients] were getting docetaxel for metastatic hormone-sensitive disease. Its hard to call that the SOC, so you would love to see what the results are. My focus now is on intensifying therapy up front for these patients with high-volume disease who can tolerate it. Even in the ARCHES and TITAN trials, you had patients who had received docetaxel and then were put on oral therapy. [Patients enrolled were] usually in the low double digits or high single digits in those trials, but they did well and there were prespecified analyses to look at those that did equally well. [Some] data suggest that patients dont do worse when we combine [treatments].

Now, its about finding those patients whom my medical oncology colleagues will treat and the ones who will tolerate [treatment] well. Patients are [presenting at a] younger age, with better performance status, and they undergo a more intensified treatment up front due to high-volume disease. We are seeing this increased incidence of high-volume de novo disease, likely linked to decreased screening in the United States in the last 5 to 10 years. Regardless, we were seeing that trend even before then, and this disease seems to be getting worse. I do think itll be about finding those patients who fit the criteria and can go through [docetaxel plus oral therapy] together. We do not give cytotoxic chemotherapy in our practice; we give all the other types of therapies. Its about the patients having a good discussion with us and then making sure they have access to the medical oncologist, who can have a discussion with them and give them more details. Thats how I have approached it.

Agarwal: How is the process different if the patient has low-volume disease but is still de novo?

Liaw: PEACE-1 also included patients with low-volume disease, and it also tried to determine what type of [patient] benefited from the triplet regimen. As of the most recent data analysis, [we have no conclusive answers] in terms of OS benefit for these low-volume patients. Further longitudinal follow-up may change that, but right now, not a lot of strong evidence shows that patients with low-volume disease would necessarily benefit from a triplet regimen. Im generally not going to convince patients with low-volume disease to take 3 different therapies at the same time. Some exceptions to that [exist,] because when we define high-volume disease, were looking at the CHAARTED criteria, which are primarily focused on a [particular] number of lesions. It doesnt get at the heart of the matter, which is the overall volume of disease. One tiny, half-millimeter bone lesion still counts as a bone lesion in the CHAARTED trial. If you have a 10-centimeter lymph node thats obstructing kidney function, thats still 1 lesion. CHAARTED doesnt fully accommodate some well-known poor prognostic features of disease, such as a Gleason score or height of PSA [bounce].

There are some gray areas here, [such as if a patient] has low-volume disease and large, obstructive lymph nodes that dont quite meet high-volume disease criteria. If theyre highly symptomatic and they need an immediate response, I think theres still room to make a case for much more aggressive triplet therapy. Does that mean that its necessarily better over a doublet? I dont have those data. I dont know that well have great randomized prospective studies to be able to demonstrate this soon. Most likely, what well have to do is come together as a medical community to understand what the real-world data tell us, to help inform some of these decision-making processes. For patients with low-volume disease, Im still mostly thinking about doublet therapies.

Agarwal: How do you approach genomic profiling?

Chowdhury: [We have] both germline genomic profiling and somatic genomic profiling. From the somatic genomic profiling [perspective], its difficult because many patients [with homologous recombination repair gene alteration] from the PROfound study [NCT02987543] failed the FoundationOne testing.9 A lot of the samples had insufficient DNA extraction, so we need to think about that. When we have a patient with metastatic disease, particularly poor-prognosis metastatic disease, we need to be getting the DNA from those patients to check whether they have somatic mutations or germline mutations. Those are patients who will need options going forward, potentially like a PARP inhibitor.

From the germline side, the [National Comprehensive Cancer Network] guidelines are good. We dont have [enough] geneticist capacity in the [United Kingdom] for every high-risk localizedpatient. One must be a bit more pragmatic and look at particularly high-risk [ancestry] groups, such as Ashkenazi Jews [and others] with a significant history of likely BRCA-related cancers, and [consider] education around that. Its an evolving field. Tests are evolving, and not all genes are equal. BRCA1, BRCA2, and ATM are different genes with different actionability. Not all mutations are equal, so a homozygous deletion is different than a missense. And not all tests are equal. We must be careful about tests that [identify] mutations that just arent actionable. A lot of work [remains] to be done there. Its an interesting area, and you and your group demonstrated with olaparib [Lynparza] that there is actionability that can benefit patients. These are exciting times, but the data are early.

Lowentritt: [My center] was a trial site for PROfound, but I got 0 patients enrolled because all my samples failed. It informed how I then started doing testing, and I am now getting fresher biopsies at diagnosis. Im getting an initial somatic workup because the tissue is fresh. [Genetic testing] is more likely to be successful, and we have more [available samples] so that we can [determine results easier]. If a prostatectomy [has been done], that makes [genetic testing] easier as well. Most patients who were diagnosing with de novo metastatic disease are going to just have a biopsy. Im [receiving tissue samples] upfront with the understanding that many of these [mutations] are currently actionable. My approach now is to test early and test often. We have to recognize that most of the information that we currently know is helpful is available at the beginning. Future discovery will be based on resistance mechanisms and other things that are developing over time, so we can test as patients progress. I have gone to a lot more testing in the de novo setting.

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Recap: Recent Advances in the Treatment of Metastatic Castration-Sensitive Prostate Cancer - Cancer Network

Australia has a reputation for living well through our fortuitous supplies of mineral wealth in demand globally.

But in recent years a new breed of entrepreneur has moved the country into the future with developments in the fields of medical and information technology, green tech and biotech.

The companies range from those in the venture capital and development stage to operators listed on the stockmarket that make profits for shareholders.

Just how big the startup sector has become in recent years is highlighted by Paul Naphtali, co-founder and partner of venture fund Rampersand.

Back in 2013 the industry might have been investing $300 million a year, he said.

In 2021 that had jumped to $10 billion in Australia.

Editor of industry newsletter Biotech Daily David Langsam said the sector is moving to a more commercial footing.

Now 15 of the top 20 biotech companies have sales and revenue. They arent necessarily revenue positive but they do have commercial revenue. That wasnt the case 15 years ago, Langsam said.

That growth is reflecting itself on the sharemarkets where the Pharmaceuticals and Biotechnology index has risen 13 times since September 2006, while the All Ordinaries index is up only 1.38 times in the same period.

One new operator is Eugene Labs, which brings genetic testing into the home for a range of conditions and uses.

CEO Kunal Kalro, who co-founded the group with medical scientist Zoe Milgrom, said they are inspired by the belief that great health starts with your genetics.

To that end they provide people with seamless and actionable genomic health care.

Eugene Labs provides people with the means to do a range of genetic testing in the home so they avoid the difficulty and time cost of going to hospital unnecessarily.

One test they offer is called carrier screening.

Its a test that is either done pre-pregnancy or in early pregnancy that helps people understand their risk of having a child with a serious genetic condition, Mr Kalro said.

Once people are tested they can make decisions with the backing of their genetic and health professionals on how to prevent the passing on of genetic disorders, if that is possible.

If that is not possible then management of health and genetic issues can be planned.

There are also cancer and heart health tests available with everything done at home.

If people want to use Eugene Labs services they register on the internet for a saliva collection kit, fill in a detailed health survey online and send in their specimen for processing.

Eugene Labs sends these specimens to the appropriate labs for testing.

We are not a laboratory, Mr Kalro said.

However, It interpretS lab results into understandable language for its users.

Eugene Labs automated processes mean that instead of a clinic seeing 3000 people a year we can see 300,000 a year. That is because people do the testing at home.

The business began in 2019 and is still being funded by investors who want to support its fast, early stage growth.

We could reach profitability in 24 months, but we want to grow harder so we go out and raise more money to fund that, Mr Kalro said.

Another group in the medical field is Imugene, an ASX-listed company, which is developing a range of immunotherapy technologies that allow the body to track down and fight off cancer cells.

The companys most recent breakthrough is a treatment known as oncolytic virus therapy.

This involves a natural virus being genetically modified to enter cancer cells and replicate itself.

The virus kills cancer cells while avoiding damage to healthy cells. It means that the cancer is treated with very limited side effects for the patient undergoing treatment.

This treatment, along with some earlier developments, the company believes, can also help prime peoples immune systems against cancer, which will in turn make it more difficult for cancers to get to first base in the body.

Cancers being tested with the companys treatments include lung, pancreatic, colon and colorectal.

Testing is progressing, but the company is a long way from seeing cashflows.

In the June year just gone it lost $37.8 million, a reflection of the big spends on clinical trials and research necessary to bring new medical technologies to market.

But founder and executive chairman Paul Hopper described the company as in an enviable position financially with a long cash runway.

That means investors are still putting up cash to keep the wheels turning. It raised $95 million last financial year and another $80 million on September 9.

CEO Leslie Chong said the latest funding round will give ourselves an unimpeded runway to progress the numerous clinical trials that we have ongoing.

Eventually that will translate into shareholder value and improved patient outcomes, she said.

Although there are still people prepared to put up cash to fund the group, a shakeout in the biotech sector has hit it hard.

Imugene is currently valued at $1.5 billion on the stockmarket, but it was worth $2.5 billion a year ago.

See the rest here:
Australia moves to future in biotech and medical technologies with billions in new investment - The New Daily

Mortality has always been on Perry Jones mind, much more so than your average 20-something. Shes dealt with a number of challenging health conditions since her teens, so when her mother urged her to be screened for the BRCA1 variant and BRCA2 variant gene a couple of years ago (both of which indicate a high risk of breast and ovarian cancer) she didnt exactly jump at the chance.

Jones, who has type 1 diabetes, coeliac disease and spinal development issues, speaks about her dealings with the health system in the world-weary way of someone whos been in and out of waiting rooms her whole life.

Ive got the whole wazoo. So a part of me was like, Whats the likelihood that Im going to have another thing? Itll be fine. Theres no point.

But Jones mother insisted. After all, shed been diagnosed with breast cancer at the age of 40. Mum said its better to know than not to know. And if we know, then we can warn others in our family and we can look into better treatment methods for ourselves in future.

Eventually, Jones agreed to take the saliva test. And then I forgot about it. So when I did get that phone call, to tell me I had the (BRCA1) gene, I was like, Oh, youve got to be kidding me.

Jones results have the potential to save her life, but they have also irrevocably informed the way she views and plans for her future, regardless of whether she ever receives an eventual diagnosis. As technological advancements and decreasing costs make testing accessible to broader swathes of the population, what does it mean to know the risk embedded within our DNA?

Last month, Monash University launched DNA Screen, offering 10,000 people aged 18 to 40 secure, free DNA testing to identify risk of cancer and heart disease that can be prevented or treated early.

The study is a chance to gauge the public appetite for preventive genetic testing (as opposed to the current status quo of clinical criteria-based testing) and could help Australia become the first country to offer preventive DNA screening through a public healthcare system.

The appetite from people in this age bracket was overwhelming. The DNA Screen team initially aimed to contact young people across social media to spread the word. Instead, without social media promotion, the website reached their target of registering 10,000 people to do the at-home saliva tests in 24 hours.

The interest is enormous, says Jane Tiller, co-lead of the project and ethical, legal and social adviser for Public Health Genomics at Monash.

DNA Screen, which is partly funded by the federal government, is attempting to pilot and demonstrate the value of population-level screening in an effort to provide greater access to genomics for everyone, similar to the mass bowel and breast cancer screening the government already funds for older Australians. Historically, the costs of genetic testing have been prohibitive, which meant it was only available to people with a family or personal history of disease, but up to 90% of people at high risk are not identified by current family history-based testing.

Although there are many genes that could be studied, the researchers picked 10 gene variants because the conditions they can lead to are medically actionable and there are already preventive measures for them hereditary ovarian and breast cancer, Lynch syndrome and familial hypercholesterolaemia (which increases the likelihood of having coronary heart disease at a younger age).

Those found to be at high risk after DNA testing expected to be about one in 75 will have their situation explained by experts and be offered genetic counselling and prevention measures, such as regular scans and check-ups. Given the stats, roughly 130 people from the study are likely to be found to be high risk. But what does it mean to scale up genetic screening and introduce mass preventive testing into any health system?

Bringing genetic screening into public health has huge promise if we use it wisely, says Prof Ainsley Newson, professor of bioethics at the University of Sydney. But there are questions to consider. For health problems where there isnt a good way to find and diagnose people, can genetics help? If a gene test exists, is it reliable in diverse populations? Does it only detect what we want to know, and nothing else? Is the health system ready to support those who are identified as at higher risk? Is there something people can do with the information it generates, and is there evidence that they will take that action?

Tiller and her co-leads have considered those same questions. If we were to test the whole of Australia tomorrow that would likely identify a number of people that may start to create a strain on a service that may not be resourced to deal with that many people, she says.

But we cant pretend that just not screening is the answer to protect the resources of the health system, because people who are at risk and develop cancer and need care will eventually need that system. And its far better to front-load your preventive care and keep people healthy and well.

The response for the DNA Screen study indicates there is widespread demand for this information beyond people such as Jones with family histories. It is powerful and heavy knowledge. Who seeks this information out?

Its a mix of people who are very big on preventive health who see that connection between finding out information now and being able to do something about it and then people who are just curious, says Tiller. Weve seen a huge increase in ancestry testing in recent years and people being interested to see whats in their genes.

Therell always be people who say, Im not interested in that. I would be too worried. I wouldnt want to know. And thats completely a personal choice.

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Communicating what the results could mean is a vital first step. Tiller says they want to ensure people understand that finding a gene is not a diagnosis of a condition and that not finding a gene doesnt mean they wont ever get cancer or heart disease.

This isnt about fear-mongering we really want to say to people, If you would like to know about this, this can empower you to take preventive steps for your own health.

So what does it mean for a young person to take on that information, to shape their hypothetical future with knowledge that wasnt available to any of us just a few years ago?

For the one in 75 people who are found to be high risk, it can of course be distressing, says Tiller. Theres a lot of support thats required in the initial stages of giving people that information, giving them space to perhaps feel some distress, to grieve over what that might mean for them and to support them through the next steps of decision-making.

Every person reacts differently to what their results could mean for them and their family. For Jones, her results have meant a cascading series of future choices and consequences, all of which are hypothetical at this stage.

Protective surgery such as a double mastectomy was initially suggested, which Jones has thus far resisted. She was also told that she should consider having her ovaries removed as soon as possible. So that changed my view of my timeline for starting a family.

Jones is also acutely aware she could pass the gene on to future children. Shes single and is studying a bachelor of design that she loves. Shed like to travel after graduation, maybe land an internship, meet someone nice.

But concurrently, at the age of 28, she has already weighed up scenarios such as freezing her eggs (shes opted not to thus far); considered what shed do if an embryo tested positive for the variant (she would abort), considered the financial implications of IVF (shed rather conceive naturally, especially given she needs to save a deposit for a house); weighed up how shell tell a future partner about her genetic risk (shed be upfront); and worried about menopause and what it means for removing her ovaries (Im actually more worried about that than the cancer at the moment to be honest). Those possibilities are a lot to deal with, she says. Shes banking on her future self, future and more mature Perry, to be able to handle them.

The knowledge she carries with her doesnt keep me up every night, but its definitely something ticking away in the back of my mind.

But despite all these considerations, Jones is grateful for the opportunity to be tested.

Having the test gave me a sense of control, even if I cant control whether or not I develop cancer. Im in control of knowing about it. I know the risks and I know what steps I can take to capture it as soon as possible if it develops.

Two years on from receiving her results, Jones is philosophical about living with what she knows. Shes much more vigilant and shes made peace with having to endure extra tests.

She also reminds herself that theres a chance that she may never be diagnosed. I guess I just accept that its part and parcel of the body that allows me to live. So whatever it comes with, Im just going to have to deal with. And as much as I dont like carrying these genes, its better to be alive and have them than not at all. So Im still thankful for this meat cage that contains my consciousness.

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Ticking away in the back of my mind: what does it mean to know the risk embedded in your DNA? - The Guardian

The largest RNA study ever conducted in hereditary cancer analyzed more than 43,000 patients who received Ambrys +RNAinsight testing and found that 1 in 950 had an elusive clinically actionable result that would have been missed by DNA-only testing.

Combined DNA and RNA testing identified cancer risk in an additional 1 out of 79 patients compared to DNA-only testing.

ALISO VIEJO, Calif., August 29, 2022--(BUSINESS WIRE)--Ambry Genetics, a leader in clinical diagnostic testing and a subsidiary of REALM IDx, Inc., announced today the findings of a study that showed paired RNA and DNA genetic testing, conducted at the same time, detected elusive pathogenic variants in 1 of every 950 patients that were missed by DNA testing alone. The findings, published in npj Genomic Medicine, highlight the importance of combining RNA and DNA analysis in hereditary cancer testing to give clinicians and their patients the most accurate and comprehensive genetic data needed to inform patient care and achieve the best outcomes.

According to the National Library of Medicine, as of August 2017, there were approximately 75,000 genetic tests on the market, representing 10,000 unique test types. Unfortunately, many of these DNA-only tests exclude large portions of DNA such as introns, a sequence of DNA that is spliced out before an RNA molecule is translated into a protein. In addition to omitting large portions of introns, DNA-only testing lacks the functional context to determine whether a variant increases cancer risk, which can lead to inconclusive results. These limitations may prevent patients and their families from getting accurate results to inform their preventative or therapeutic care.

Concurrent RNA and DNA testing helps identify more patients at risk by determining if an uncertain result from DNA testing is normal or disease-causing, and expands the range of genetic testing to identify mutations that DNA-only testing misses.

"With our +RNAinsight test we were the first company to offer upfront paired DNA and RNA sequencing to give clinicians and their patients the most accurate and comprehensive information about their cancer risk," said Tom Schoenherr, CEO, Ambry Genetics. "This study confirms that conducting RNA and DNA testing together is critical to help identify high-risk individuals who would have been missed by DNA-only testing."

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Previously, published evidence of the value of RNA sequencing has been limited by studies with small sample sizes and enriched cohorts. This study by Ambry is the largest to examine the impact of paired DNA and RNA analysis in hereditary cancer testing. In the study, tests from 43,524 patients who underwent paired DNA-RNA genetic testing using Ambrys +RNAinsight from March 2019 through April 2020 were examined to determine if the paired sequencing detected more pathogenic variants than DNA testing alone. The analysis identified patients who had disease-causing alterations that DNA testing alone would have misinterpreted. Examining the RNA data resolved variant findings in 549 patients (1 in 79 patients) by providing the required functional data for more accurate interpretation of splicing variants. In addition, the analysis showed that 1 of every 950 patients had a pathogenic deep intronic variant that would not have appeared in DNA testing alone.

The results from the study may underestimate the total clinical impact because some of the patients families who are now eligible for genetic testing were not tested. In addition, the ripple effect created by these updated results extends to past and future patients. These downstream benefits were not quantified in the current study.

"This is the largest study of its kind to show the importance of RNA testing in predicting cancer risk," said Carrie Horton, senior clinical research specialist for oncology and first author of the study. "Its clear that RNA analysis has the potential to become a standard practice for genetic testing to improve hereditary cancer care."

A webinar, open to the media, genetic counselors, clinicians and other interested parties, will be conducted on Thursday, September 15 at 10 a.m. PT to review the study findings. Registration information is here.

Ambrys +RNAinsight was the first test to provide comprehensive gene coverage for RNA analysis to help classify and detect DNA variants associated with a variety of cancers including breast, ovarian, prostate, colon, pancreatic and uterine. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed and decreases the frequency of inconclusive results.

About Ambry Genetics

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

View source version on businesswire.com: https://www.businesswire.com/news/home/20220829005605/en/

Contacts

Media Contact

Brad LottermanCommunications DirectorREALM IDx949-401-0465blotterman@realmidx.com

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Ambry Genetics Publishes 43,000 Patient Study Showing Combined RNA and DNA Analysis Identifies Patients Who Are High-Risk for Cancer but Would Have...

A teenage boy with Angelman syndrome, whose developmental differences were less substantial than those typically seen with the condition, was found to have genetic mosaicism meaning some but not all of his cells harbored an Angelman-causing mutation according to a case report.

The diagnosis followed detailed genetic analyses done after the 16-year-old was referred to a developmental behavioral pediatrician for evaluation.

Like others found to have mosaic Angelman syndrome, this patient had been thought likely to have another rare genetic disorder, given that the phenotype, or disease characteristics, were not a typical match, the researchers noted.

A broader phenotypic spectrum should be considered for [Angelman syndrome] as patients with atypical presentations may otherwise elude diagnosis, the team wrote.

The study, Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism, was published inMolecular Genetics & Genomic Medicine.

The teens case was reported by a team of U.S. researchers.

As a newborn, the boy had exhibited low muscle tone, but he had not had any problems feeding and had hit motor milestones normally. His walking ability remains normal now, though he continues to have low muscle tone and is easily fatigued with physical activity to the point that he is not able to jump or run, the researchers wrote.

The boy has never had a seizure, but he has a lifelong history of digestive upset and chronic diarrhea, which are Angelman symptoms. As a toddler he began exhibiting hyperphagia an excessive hunger that is not eased by eating and he was clinically classified as obese by age 7.

As he grew, the boys language development was markedly delayed, but not completely absent as is often the case in Angelman. While the boy never babbled like most babies do, he used sign language and a picture-based communication system to express himself in early childhood.

He first began speaking words at age seven, and currently communicates mainly through words. The researchers report that he usually speaks in short sentences just a few words long, and that he is able to ask and answer questions and follow short instructions.

Based on testing done early in childhood, the boy was broadly diagnosed with intellectual disability and adaptive impairments. He has also been diagnosed with anxiety, ADHD, and sleep difficulties. He is in school and receives special education services.

Overall, this clinical picture is not what is typical of Angelman syndrome. Indeed, most Angelman patients show much more pronounced developmental differences, with little to no verbal communication ability and usually seizures.

Given his history of hypotonia in infancy, obesity, hyperphagia, mildmoderate intellectual disability, intelligible speech, normal gait, and lack of seizures, classic [Angelman syndrome] did not match the patients phenotype, the researchers wrote.

The patient was initially suspected to have Prader-Willi syndrome (PWS), a genetic disorder usually characterized by hyperphagia and developmental differences.

PWS is caused by mutations in the paternal copy of theUBE3Agene that is, the copy of this gene inherited from a persons biological father. Angelman syndrome is also caused by UBE3A mutations, but specifically those affecting the copy inherited from the biological mother, called the maternal copy.

Genetic testing of theUBE3A gene showed no abnormalities in the paternal copy, but mutations indicating Angelman syndrome were identified for the maternal copy.

More detailed analyses showed that genetic testing of the maternal copy yielded two results simultaneously: the strongest signal indicated a normal, non-mutated gene, while a weaker signal suggested absence of the maternal copy, indicative of either uniparental disomy or an imprinting error.

Based on this finding, the researchers concluded that the boy has genetic mosaicism meaning that some cells in his body harbor the Angelman-causing mutation while other cells in his body dont, making a mosaic of cells with and without the mutation throughout his body.

Our patient fits the clinical characteristics of mosaic AS [Angelman syndrome] with his strong expressive language skills and mildmoderate intellectual disability, instead of the phenotype of classic AS, the researchers wrote.

Noting that other cases of mosaic Angelman have been reported in the past, the team said that this case highlights the importance of considering a broader phenotypic spectrum for AS during a genetic evaluation.

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Genetic Mosaicism Diagnosed in Case of Atypical Angelman Teen |... - Angelman Syndrome News

As the feasibility of phase 1 clinical trials for prenatal spinal muscular atrophy (SMA) therapies is explored, patient and parent input on prenatal testing and possibly treatment is a valuable tool for guiding research discussions.

Rapid diagnosis and treatment are crucial for infants affected by spinal muscular atrophy (SMA), and with the advent of genetic testing, neonatal and even prenatal diagnosis has become possible. Parent and patient perspectives are important as prenatal diagnosis and treatment become increasingly feasible, and a recent study published in Prenatal Diagnosis found that many parents and adult patients affected by SMA view fetal testing and therapies in a positive light.

SMA is a rare genetic neurodegenerative disorder caused by mutations of the survival motor neuron 1 (SMN1)gene that inhibit SMN protein production. This leads to varying degrees of muscle weakness and atrophy, with symptoms of the most severe form of SMA, type 0, manifesting before birth.

Patients with type 0 SMA typically do not survive longer than 1 month after birth. Infants with type 1 SMA, which affects approximately 50% of SMA patients overall, typically show signs prior to 6 months of age and do not survive longer than 2 years. Patients with SMA type 2 typically survive into adulthood but are never ambulatory; those with type 3 show symptoms after 18 months and may walk independently but eventually require a wheelchair; and those with type 4 SMA develop proximal weakness in adulthood but remain ambulatory.

In recent years, several therapy options that can improve survival, reduce the need for ventilation, and facilitate better motor function and milestones for patients with SMA have become available. But these treatments hinge on early initiation to inhibit irreversible motor neuron damage and deliver maximal benefits. Therefore, diagnosing the most severe forms at birth or even prior to birth could improve outcomes for patients.

As the possibility of prenatal therapies emerges, it is also important to assess whether this populations historical interest in previous novel approaches also portends an interest in prenatal clinical trials, the authors wrote. Gathering stakeholder views can help inform conversations with regulatory authorities regarding trials for fetal therapies, and importantly, provide direction for future trials in considering their primary beneficiaries priorities and needs.

The study included 114 participants46 parents and 68 patientswho filled out a questionnaire designed by a multidisciplinary team and distributed by Care SMA. Most of the respondents were affected by types 2 and 3 SMA, and only 2 parents had received a prenatal diagnosis for their children. The median age at diagnosis was 15 months for patients who were diagnosed after birth. Of the patients, 63.3% received the antisense oligonucleotide nusinersen, 28.3% received gene therapy with zolgensma, and 14.7% received risdiplam or branaplan small molecule therapy.

Of the respondents who were affected by type 0 or 1 SMA, 80% strongly supported fetal testing and diagnosis, compared with 71.4% of respondents affected by SMA type 2 or 3. The majority of patients with SMA type 0 or 1 (77%) felt that their diagnoses were delayed, and 85% of those affected by SMA type 2 or 3 felt there had been a delay in their diagnoses.

Overall, 55% of respondents indicated that they would likely enroll in a phase 1 clinical trial for fetal antisense oligonucleotide therapy. Older respondents and those who felt their diagnosis was delayed were more likely to want to enroll in trials. If fetal antisense oligonucleotide or small molecule treatment becomes an established therapy, 78.9% of respondents would be likely to choose this route. Those who felt their diagnosis was delayed were more likely to choose a fetal therapy once they are established. Where fetal gene therapy is concerned, 61.1% of respondents overall indicated that they would be interested in enrolling in a phase 1 trial.

The survey results suggest that many patients affected by SMA and their parents have a positive attitude toward prenatal testing for SMA, and many would be interested in phase 1 trials of fetal therapies for SMA. This was especially true for respondents affected by more severe phenotypes of SMA. Respondents were even more likely to be interested if the therapies in question become established courses of treatment.

As the feasibility of phase 1 clinical trials for prenatal SMA therapies is explored, patient and parent input on relevant hypothetical situations is a valuable tool for guiding discussions. This is the first stakeholder survey involving prenatal SMA testing and therapy to the authors knowledge, and the results provide insight into how those most affected by SMA view fetal testing and potential prenatal therapies for SMA. In the future, further research can help determine the social factors that play into patients views on prenatal testing, trials, and therapies.

Reference

Schwab ME, Shao S, Zhang L, et al. Investigating attitudes towards prenatal diagnosis and fetal therapy for spinal muscular atrophy (SMA). Prenat Diagn. Published online August 27, 2022. doi:10.1002/pd.6228

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Patients and Parents Impacted by SMA May Be Optimistic About Prenatal Testing, Therapies - AJMC.com Managed Markets Network

The Pillars of Biopsychiatry

In a widely discussed July, 2022 analysis, psychiatrists Joanna Moncrieff, Mark Horowitz and colleagues reviewed numerous studies and found no consistent evidence of there being an association between [the neurotransmitter] serotonin and depression, and no support for the hypothesis that depression is caused by lowered serotonin activity or concentrations.

The response by supporters of mainstream psychiatry was at times marked by personal attack and distortion, and other times by statements from academic psychiatrists that Moncrieff et al. found nothing new, and that psychiatry has known for many years that serotonin levels are not associated with depression. Yet as Robert Whitaker showed, psychiatry continued to promote the serotonin chemical imbalance story after knowing it was wrong, and pharmaceutical companies, and academic psychiatriststold us a story that their own research had shown to be false, and they did so because it benefitted guild interests and the financial interests of pharmaceutical companies.

If psychiatrys serotonin and chemical imbalance pillars are now crumbling, the genetic predisposition (heritability) pillar remains in placefor now. In this article I review the evidence that psychiatry ceaselessly puts forward in support of the heritability of major depression (hereafter, MD). I will first describe MD genetic studies based on families, twins, and adoptees, and then finish with a more detailed critical evaluation of MD molecular genetic studies, which have failed to discover genes shown to cause MD. The genetics of depression story I will tell differs fundamentally from the story told in most textbooks, academic review articles, popular media accounts, and online sources.

The American Psychiatric Association sees MD as a genetically based serious medical illness, for which brain chemistry may contribute. Critics have challenged these claims, and some have questioned the validity and reliability of the MD diagnosis itself. Inter-rater reliability refers to the ability of psychiatrists to agree on a diagnosis. MD reliability is low (inter-rater reliability kappa = .25), and has been decreasing. A diagnosis must be reliable in order to be valid. If MD cannot be reliably identified, it cannot be a valid diagnosis. (Although reliability is a prerequisite for validity, a reliably identified condition must still be validated by other means.) Therefore, research based on a diagnosis of major depressive disorder or a similar condition begins on shaky ground.

Although mainstream outlets and the general public often get this important point wrong, most genetic researchers and their critics are in agreement that the results of MD family studies (depression running in the family) cannot be interpreted genetically, because family members share common environments as well as common genes. MD adoption studies have been carried out in an attempt to separate these influences, but their flaws led top psychiatric genetic researchers Jonathan Flint and Kenneth Kendler to conclude in 2014, Surprisingly, no high-quality adoption study of MD has been performed, so our evidence of the role of genetic factors in its etiology comes solely from twin studies.

A subsequent 2018 MD adoption study by Kendler and colleagues, based on Swedish adoptees and families, was subject to the problems and potential confounds that characterize psychiatric adoption research. These problem areas include adoption agencies typically selective and non-random adoption placements, late separation, late placement, range restriction and the screening of adoptive families for psychological and financial stability, and shared prenatal environment. It is likely that some adopted children experienced attachment-rupture trauma, emotional suffering, loneliness and neglect, and other adverse childhood conditions that can lead to psychological problems later in life.

Kendler and colleagues 2018 adoption study was based on the records of over 14,000 adult adoptees obtained from Swedish population registers. Children were placed in their adoptive homes up to five years of age (late placement, probable late separation). Diagnoses were taken from hospital and medical records found through the registers. The researchers concluded, The parent-offspring resemblance for treated MD arises from genetic factors and rearing experiences to an approximately equal extent. They calculated a modest 16% MD heritability estimate. However, the studys MD rate among adoptees was 50% higher than among people who grew up in intact families (15.6% vs. 10.2%), meaning that adoptees and non-adoptees constituted distinct populations in relation to MD. It follows that the studys findings cannot be applied (generalized) to people who grew up in intact families. Due to the above-mentioned problems related to both the Kendler study and psychiatric adoption studies in general (including the reliability/validity issue), like the earlier investigations the 2018 Kendler et al. adoption study results cannot be interpreted genetically.

If a genetic theory of behavior depends on twin study data, the theory is in serious trouble. Based on twin study results, biopsychiatry estimates MD heritability in the 30%-40% range. (I make a distinction between psychiatry and biopsychiatry, while being aware that biological and genetic approaches currently dominate psychiatry. The psychiatric genetics field is a major component of biopsychiatry.) Genetic theories in psychiatry are based on studies using reared-together twin pairs. Other than anecdotal reports on individual pairs, there are no reared-apart twin studies in psychiatry, even though psychiatric texts at times say that there are.

Psychiatric twin studies use the classical twin method, which compares the concordance rates or behavioral correlations of reared-together MZ (monozygotic, identical) versus reared-together same-sex DZ pairs (dizygotic, fraternal). MZ pairs are assumed to share 100% of their segregating genes, whereas DZ pairs are assumed to share on average 50%. The results of MD twin studies show that MZ pairs resemble each other more for MD compared with same-sex DZ pairs at a statistically significant level. I will designate this finding rMZ > rDZ (with r representing the behavioral correlation).

All sides of the genetics of depression debate expect a twin study finding of rMZ > rDZ. The main disagreement centers on how this expected-by-all finding should be interpreted.

Genetic interpretations of rMZ > rDZ require acceptance of the long-controversial MZ-DZ equal environment assumption, also known as the EEA. According to the EEA, MZ and same-sex DZ pairs grow up experiencing roughly equal environments, and the only behaviorally relevant factor distinguishing these pairs is their differing degree of genetic relationship to each other (100% vs. an average 50%). This key assumption is obviously false, however, since when compared with same-sex DZ pairs, MZ pairs grow up experiencing

Most modern twin researchers concede the point that MZ environments are more similar. For example, in a 2014 article by criminology twin researcher J. C. Barnes and colleagues, ironically written in defense of twin research, the authors properly recognized, Critics of twin research have correctly pointed out that MZ twins tend to have more environments in common relative to DZ twins, including parental treatmentcloseness with one anotherbelonging to the same peer networksbeing enrolled in the same classesand being dressed similarly.

Despite recognizing that MZ and DZ twin pairs grow up experiencing very different environments, twin researchers have used eight different arguments in support of the EEA. In my forthcoming book Schizophrenia and Genetics: The End of an Illusion (Routledge, 2023), I examine each of these eight arguments and show that none holds up (a partial examination of these arguments can be found here). Because the EEA is false, the results of a psychiatric twin study finding rMZ > rDZ can be explained by non-genetic factors. Decades of studies designed to test the EEA have failed to alter this basic conclusion.

In a 2000 MD review and meta-analysis based on twin study data, leading genetic researchers Patrick Sullivan, Michael C. Neale, and Kendler calculated a 37% MD heritability estimate based on the greater MZ versus DZ resemblance for depression. Sullivan and colleagues sensibly did not claim that MZ and DZ environments are equal, and like most authors of the six depression twin studies they analyzed, they sidestepped the twin methods unequal environments problem by defining the EEA in its trait-relevant form: The critical equal environment assumption, they wrote, posits that monozygotic and dizygotic twins are equally correlated in their exposure to environmental events of etiologic relevance to major depression (emphasis added).

A principle of science, however, is that the burden of proof falls on people making a claim, not on their critics. Therefore, MD twin researchers using this trait-relevant definition of the EEAand not their criticsare required to identify the specific and exclusive trait-relevant environmental factors involved in a diagnosis of major depression. Until this happens, and until they then determine that MZ and DZ pairs were similarly exposed (or not exposed) to these factors, the EEA as conceptualized by Sullivan and colleagues fails completely. Because the EEA is false, MD twin study and twin-study-based meta-analysis results cannot be interpreted genetically.

Biopsychiatry is confronted with another major predicament. It relies on the production and accuracy of heritability estimates (h2) that range from 0% to 100%, but these estimates are based on a string of questionable assumptions. One of these assumptions is the long-disputed idea that genetic and environmental factors are independent from each other (additive) and do not interact. In a 2022 analysis, sociologist NicolasRobette and colleagues examined the assumptions that heritability estimates are based upon, and concluded, None of the hypotheses inherent in heritability estimates are verified in humans. This is a strong statement that, if true, should lead to the abandonment of heritability estimates in psychiatry and other behavioral science fields.

The heritability concept was developed in the 1930s as a tool to help predict the results of selective breeding programs of farm animals, such as milk production in cows. Since the 1960s, h2 has been extended by behavioral researchers and others into a measure of the relative importance of genetic and environmental influences on various psychiatric conditions, and behavioral characteristics such as IQ and personality. Critics generally object to h2 being used in this way, in part because nature and nurture influences interact with each other, meaning that it is not possible to separate and partition these influences. This leads to a rejection of variance explained by descriptions of the causes of psychiatric conditions.

Heritability estimates do not indicate the strength or weakness of potential genetic influences, or imply anything about changeability. Psychologist David Moore and David Shenkwrotein The Heritability Fallacy that the term heritability, as it is used today in human behavioral genetics, is one of the most misleading in the history of science. A strong statement that may well be true.

Like other psychiatric diagnoses, the decision to perform major depression molecular genetic research was based on the belief that earlier family, twin, and adoption studies produced indisputable evidence in favor of substantial heritability. This is the fundamental error of MD gene-finding strategies. Because family, twin, and adoption studies have failed to provide such evidence, there is no good reason to assume that genes for depression even exist. Future historians may well conclude that the search for non-existent genes was a scientific folly of epic proportions.

When assessing MD gene discovery claims, we should keep these additional points in mind.

The three main (at times overlapping) eras of psychiatric molecular genetic research, which dates back to the 1960s, have been the linkage, candidate gene association, and the current GWAS/PRS eras (genome-wide association study/polygenic risk score). Another area of research focuses on potential rare risk variants such as copy number variants, or CNVs. Although claims of CNV-MD gene associations have appeared in recent years, I will focus on molecular genetic studies using the candidate gene, GWAS, and PRS approaches.

Psychiatric candidate gene researchers generate hypotheses about a diagnosis, and then identify candidate genes that might play a role in causing it. Genes become MD candidates based on their role in influencing brain functions believed to be related to the diagnosis. Flint and Kendler reported that as of 2013, more than 1,500 MD candidate gene association studies had been published, and almost 200 genes had been tested. Similar to the linkage era, however, the candidate gene era in the behavioral sciences is now widely recognized to have been, as leading behavioral genetic researcher Robert Plomin conceded in 2018, a flop.

In a 2019 analysis appearing in the American Journal of Psychiatry, behavioral geneticists Richard Border, Matthew Keller and colleagues concluded that findings from the MD candidate gene era are likely to be false positives:

The study results do not support previous depression candidate gene findings, in which large genetic effects are frequently reported in samples orders of magnitude smaller than those examined here. Instead, the results suggest that early hypotheses about depression candidate genes were incorrect and that the large number of associations reported in the depression candidate gene literature are likely to be false positives.

In a subsequent interview, Keller asked, How on Earth could we have spent 20 years and hundreds of millions of dollars studying pure noise? A similar question could be asked in relation to schizophrenia candidate gene research.

An example of earlier candidate gene era excitement is found in a 2009 academic journal article entitled The Role of Serotonin in the Pathophysiology of Depression: As Important as Ever. In this publication psychiatrist Charles Nemeroff and Michael Owens reviewed and updated their 1994 citation classic article describing what they believed was a big serotonin gene discovery: One of the most exciting findings is the importance of SERT [serotonin transporter] polymorphisms [gene variants] in vulnerability to depression, and the interaction of this genetic marker with environmental factors. Both authors reported paid advisory roles with and research funding from several drug companies, and Nemeroff reported stock ownership in six related companies. At the height of the candidate gene era an article appeared in a major mass media outlet wondering out loud whether people with depression are morally obligated to forgo bearing children in order to avoid passing on their bad genes. The genetic predisposition and serotonin theories of MD have been linked for many years.

Psychologist Stuart Ritchie recalled in 2020 that when he was an undergraduate student between 2005 and 2009, candidate gene studies were the subject of intense and excited discussion. By the time I got my PhD in early 2014, they were almost entirely discredited. For Ritchie, who otherwise strongly supports behavioral genetic research and theories, reading through the candidate gene literature is, in hindsight, a surreal experience: they were building a massive edifice of detailed studies on foundations that we now know to be completely false.

The Most Famous Candidate Gene-Environment Link of Them All. A highly publicized MD-candidate-gene link was put forward in a widely cited 2003 study by Avshalom Caspi and colleagues (according to Google Scholar, cited over 10,400 times as of August, 2022, or about 550 citations per year over 19 years), who concluded that people experiencing stressful life events are more likely to be diagnosed with depression if they carried 5-HTTLPR, a variant genetic sequence within the SLC6A4 gene that encodes a protein that transports serotonin within neuronal cells. For many people, the Caspi study provided a sensible explanation for the causes of depression, where life events and genetic predisposition combined to explain why some people become depressed, while others do not. However, despite the publication of at least 450 research papers about this genetic variant, by 2018 or so it was clear that the 5-HTTLPR depression theory did not hold up.

The rise and fall of the 5-HTTLPR-depression link was described in psychiatric drug researcher Derek Lowes aptly-titled 2019 Science article, There Is No Depression Gene. The depression candidate gene literature, he wrote, turned out to be all noise, all false positives, all junk. A 2019 online article by a psychiatrist using the pen-name Scott Alexander documented years of subsequently unsubstantiated 5-HTTLPR-depression claims in the scientific literature, and how the media popularized these claims by calling 5-HTTLPR and a few similar variants orchid genes, because orchids are sensitive to stress but will bloom beautifully under the right conditions. Who could say a bad word about orchids? Alexander summed up the 5-HTTLPR debacle as follows:

First, what bothers me isnt just that people said 5-HTTLPR mattered and it didnt. Its that we built whole imaginary edifices, whole castles in the air on top of this idea of 5-HTTLPR mattering. We figured out how 5-HTTLPR exerted its effects, what parts of the brain it was active in, what sorts of things it interacted with, how its effects were enhanced or suppressed by the effects of other imaginary depression genes. This isnt just an explorer coming back from the Orient and claiming there are unicorns there. Its the explorer describing the life cycle of unicorns, what unicorns eat, all the different subspecies of unicorn, which cuts of unicorn meat are tastiest, and a blow-by-blow account of a wrestling match between unicorns and Bigfoot.

So ends the sorry and expensive MD candidate gene story. Despite the expenditure of hundreds of millions of dollars on the depression studies alone, and despite genetic researchers sincere and admirable desire to prevent and alleviate human suffering, the behavioral science candidate gene era turned out to be, in the words of our planets top behavioral geneticist, a flop.

Given the failure of family studies, twin studies, adoption studies, linkage studies, candidate gene studies, and rare variant studies to produce scientifically acceptable evidence that disordered genes play a role in causing MD, supposedly hypothesis-free GWAS/PRS research has become the last hiding place of potential MD heritability. GWAS researchers attempt to identify single-nucleotide polymorphisms or SNPs(pronounced snips by those in the field).These variants, numbering in the millions and curated in an ever-growing digital catalogue available to researchers, are considered common minority variants of genes present in at least 1% of the population. Because multiple comparisons are made, the GWAS significance threshold is very high, usually 5 108. A PRS study combines statistically significant and non-significant individual SNP hits to produce a polygenic (composite) risk score. Polygenic risk scores have been described as constructed as a weighted sum of risk allele counts using effect sizes estimated from GWAS as the weights. They are expressed as a percentage.

As GWAS pioneer Jonathan Flint, Ralph Greenspan, and Kendler repeatedly stressed in their 2020 book How Genes Influence Behavior (2nd ed.), A GWAS does not find association with a gene. A GWAS finds associations with a locus, which is a geneticists term for placea place in the genome where the genetic variant is found.If the variant found by a GWAS altered a coding region, as was initially hoped, then it would be straightforward to say which genes were involved in the trait under investigation. But GWAS hits turned out not to be coding for SNPs.

To repeat: A GWAS does not identify causative genes, and a gene association points to a correlation or to a chance finding, not to a cause. The classic example of a correlation not implying cause is that if red-haired people in a given society are persecuted, and for this reason alone many red-haired people suffer from depression, this indicates only that genes for red hair are associated with depression, not that they cause depression.

In 2014, Flint and Kendler recognized the failure of the nine GWASes published up to that time. Since then, a few studies have produced GWAS SNP hits that psychiatry and the media now put forward as solid MD gene associations. However, psychiatric GWAS/PRS studies have been the subject of controversy for several reasons. I will mention a few of the problem areas.

Associated With Caused By. As we saw, a GWAS identifies regions of the genome (hits) associated with a condition. It does not identify genes that cause it, and associated with does not mean caused by.

Population Stratification Confounds. GWAS/PRS findings are subject to the confounding influence of population stratification (pop strat), which can lead to spurious findings (explained here, here, here, and here). Briefly, population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry, rather than association of genes with disease. No generally accepted remedy for pop strat has been found, although many have been proposed and attempted.

Dependence on Heritability Estimates. Heritability estimates both justify and guide a GWAS. Researchers assume that heritability estimates are important and roughly accurate, and that MD heritability is in the 30%-40% range. If a heritability estimate is inflated due to systematic bias, or if heritability estimates are meaningless in and of themselves (apart from their original purpose of helping predict the results of a selective breeding program), attempts to find causative genes will end up as expensive failures.

A Scientific Fishing Expedition? By definition, a scientific fishing expedition is a hypothesis-free method, where researchers base their conclusions on significant correlations that in the GWAS context pop up on a Manhattan Plot. According to an author writing in a clinical psychiatry publication, The termfishing expeditionis used to describe what researchers do when they indiscriminately examine associations between different combinations of variables not with the intention of testing a priori hypotheses but with the hope of finding something that is statistically significant in the data. It could be argued that a GWAS is a type of fishing expedition, or even more, a massive gene-trawling juggernaut hauling in as much variation as possible. In 2016, behavioral geneticist Eric Turkheimer referred to the GWAS method as unapologetic, high-tech p-hacking.

Conflicts of Interest. Potential conflicts of interest exist when research, researchers, and institutions are funded by companies that profit from the promotion of biological and genetic explanations of depression. A large-sample GWAS claiming 178 significant loci-associations for MD, including replication of the findings in an independent sample, was published in 2021. Yale Universitys Daniel Levey was the lead author, and the corresponding author was psychiatric researcher Murray B. Stein. Dr. Steins competing interests statement read (I marked companies that develop antidepressant drugs with an asterisk), M.B.S. reports receiving consulting fees in the past 3 years from Acadia Pharmaceuticals*, Aptinyx*, Bionomics*, BioXcel Therapeutics*, Boehringer Ingelheim, Clexio Biosciences*, EmpowerPharm, Engrail Therapeutics*, Genentech/Roche, GW Pharmaceuticals, Janssen*, Jazz Pharmaceuticals and Oxeia Biopharmaceuticals. The annual consulting fee income Dr. Stein received was not disclosed. The article said that he and a co-author secured funding for this project. The direct-to-consumer genetic testing company 23andMe played a significant role in this study, a company that stood to profit from the discovery of relevant MD genes. There is a symbiotic relationship between psychiatry, biopsychiatry, direct-to-consumer genetic testing companies, and the drug companies. All have a vital and mutual interest in convincing the public that psychiatric conditions are real brain-based diseases rooted in genetics, in need of medication like other diseases. As Robert Whitaker and others have shown, all share in the profits.

Other Unlikely GWAS Findings. The GWAS method has produced some questionable and even humorous findings. These include significant hits for behavioral characteristics that include getting concussions, self-reported childhood maltreatment, crying habits, female sexual dysfunction, food liking, household income, ice cream flavor preferences, loneliness, being a morning person, musical beat synchronization, regular attendance at a sports club, pub, or religious group, and white wine liking. Results of this type are obvious GWAS red flags, just as they were during the failed candidate gene era.

Polygenic Risk Score Cautions and Warnings. In an interview, veteran psychiatric genetic researcher Elliot Gershon described PRS as sort of a mindless score, and that you cant really tell anything from the polygenic risk factor. In a detailed analysis, sociologist/criminologist Callie Burt described several potential PRS environmental confounds, and concluded that scores should be used sparingly and cautiously with caveats placed front and center. Historian of science Nathaniel Comfort warned that polygenic risk scores are in no sense causal. A group of genetic researchers concluded that polygenic scores are computed under erroneous assumptions. Medical researcher Keith Baverstock called polygenic risk scores a dangerous delusion.

Science is in the midst of a replication crisis (also known as the reproducibility crisis), meaning a crisis brought about by the discovery that some key findings across various scientific fields were probably non-findings resulting from research that was poorly performed, manipulated to match confirmation biases or funding source expectations, or even fraudulent. The traditional scientific research and publication process makes it possible for researchers to change various aspects of their study after reviewing their data, but before submitting their paper for peer review and publication. Science writer Ed Yong wrote a 2019 Atlantic article about how confirmation biases may have played a role in prolonging what Lowe called the all noise, all false positives, all junk MD candidate gene era:

Many fields of science, frompsychologytocancer biology, have been dealing with similar problems: Entire lines of research may be based on faulty results. The reasons for this so-called reproducibility crisis are manifold. Sometimes, researchersfutz with their datauntil they get something interesting, orretrofit their questionsto match their answers. Other times, they selectively publish positive results while sweeping negative ones under the rug, creating a false impression of building evidence.

Such practices have led to increasing calls for research preregistration, where investigators would have the option or be required to submit their research rationale, hypotheses, design and analytic strategy, and planned data-collection stop point to a journal for peer review before they collect and analyze their data. Although we may never be able to eliminate bias altogether, wrote cognitive neuroscientist Chris Chambers, a sure way to immunize ourselves against its consequencesis peer-reviewed study preregistration.

Yong saw the problems that led to the downfall of depression candidate gene research as characteristic ofan academic world that rewards scientistsfor publishing papers in high-profile journalsjournals that prefer flashy studies that make new discoveries over duller ones that check existing work. Researchers are rewarded for beingproductiverather than beingright, for building ever upward instead of checking the foundations. (The validity of twin studies question is an example of a foundation that molecular genetic researchers rarely check.) After enough (albeit weak) studies are published, according to Yong they create a collective perception of strength that can be hard to pierce. Hard to pierce, that is, until the entire false-positive structure comes crashing down.

Most likely, Stuart Ritchies 2020 evaluation of the behavioral candidate gene era will be the eventual evaluation of the behavioral and psychiatric GWAS/PRS era as well (emphasis added): They were building a massive edifice of detailed studies on foundations that we now know to be completely false.

I have shown that family, twin, adoption, and molecular genetic studies have failed to provide scientifically valid evidence that genes play a role in causing depression. Combined with the recent findings by Moncrieff and colleagues that serotonin is not associated with depression, the idea of MD as a medical condition is in serious trouble.

To understand the true causes of depression, we must focus on family (including abuse and trauma), social, and political environments, including racial, gender, class, and other types of oppression/discrimination. We must address peoples increasing social isolation and disconnection from each other, lack of meaning and purpose, consumerism, and fears of present or future calamities such as pandemics, climate change, and nuclear war. The idea of depression as a medical/genetic condition must be reevaluated, and non-medical prevention and intervention strategies should be promoted. This is the approach of the Power Threat Meaning Framework (PTMF), developed by psychologists Lucy Johnstone, Mary Boyle, and others. In a 2020 introductory book, the authors described the Frameworks overall message as follows:

All forms of adversity and distress are more common in social contexts of inequality and other forms of deprivation, discrimination, marginalisation and injustice. This evidence does not support the individualisation of distress, either medically or psychologically. Instead, it implies the need for action, primarily through social policy, at the earliest possible point, before the destructive and self-perpetuating cycles are set in motion.

Psychiatry sees a depressed person and asks, What is wrong with you? The PTMF asks, as do most psychotherapists, What happened to you? Given the lack of evidence, terms such as serotonin, chemical imbalance, brain disease, genetic predisposition, genes, and heritability should not be found in the answer to either of these questions. As James Davies wrote, the medical model describes suffering as being rooted in individual rather than social causes, leading individuals to think that it is them rather than the economic and social system in which they live that is at fault and in need of reform.

Psychiatrys longstanding major depression chemical imbalance and brain disease claims used to support the medical model are now crumbling. The longstanding and related depression as a heritable disorder claim awaits its turn.

***

Mad in America hosts blogs by a diverse group of writers. These posts are designed to serve as a public forum for a discussionbroadly speakingof psychiatry and its treatments. The opinions expressed are the writers own.

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Major Depression: The Chemical Imbalance Pillar Is CrumblingIs the Genetics Pillar Next? - Mad In America - Mad in America

Diagnostics and research startup MedGenome announced on Tuesday it raised $50 million led by life science-focused Novo Holdings, bringing total funding to $185.5 million.

MedGenome, a California-based startup, leverages genomic sequencing platforms to aid in diagnostics and drug discovery.

Most notably, the 9-year-old startup also collects samples from patients in and around the Indian subcontinent to better map out variations in genetic sequencing among the South Asian population. Leveraging a network of over 4,000 hospitals and 10,000 doctors around the world, MedGenome has distributed over 300,000 genetic tests. The company says it has built the largest database of South Asian genetic variants.

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The fresh funding will launch the company out of South Asia and into Africa and the Middle East.

Breakthroughs and discovery are only as successful as the data on which theyre based, said Dr. Felix Olale, global co-lead for health care investments at LeapFrog Investments in a statement, MedGenomes mission to expand the global genomic dataset to aid in the development of more inclusive and equitable research and drug discovery is not only inspiring, but critical to the future of global healthcare.

Scientists envision a genomic sequencing utopia where enough data exists to predict if an otherwise-healthy person is at risk for diseases, allowing patients to receive preventative care early on. Several countries leveraged genomic sequencing to map out COVID-19 outbreaks down to the very person that hosted a new variant.

But the vast majority of genetic testing happens in high-income countries such as those in Europe and North America, leaving a large slice of the population untested. This is dangerous: Any research or patterns derived from a Europe-heavy dataset skews what treatment looks like for everyone.

Genomic sequencing technology is what allowed scientists to create a vaccine against COVID-19 without ever having a sample of it. The technology partially led genomics startups to receive a record $2.3 million in venture funding in 2021, according to Crunchbase data.

Illustration: Dom Guzman

Stay up to date with recent funding rounds, acquisitions, and more with the Crunchbase Daily.

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MedGenome Raises $50M To Map The Human Genome - Crunchbase News

Are you also struggling to conceive after months of unprotected sex? If you are planning to look for fertility treatments, let us tell you two most common treatments which leave people confused. These are In vitro fertilization (IVF) and Intrauterine insemination (IUI). So, how to decide whether to go for IUI or IVF? What are the risks involved with both processes? Come, lets get answers.

IUI is a fairly simple treatment usually carried out in combination with fertility drugs. The procedure begins with monitoring a womans menstrual cycle under ultrasound to rule out the presence of ovarian cysts that could interfere with ovulation. When you are ready to ovulate, highly motile sperm from your partner or donor is washed and concentrated, and placed into your uterus. You might be the right candidate for IUI if you are suffering from unexplained fertility when no cause can be found for your infertility or in the case of male infertility wherein your partner either has a low sperm count or low motility.

IUI being less invasive and less expensive could be your first reasonable option if you have time on your side and are free of any factors that prevent you from trying it. Besides, it requires fewer medications and even none at all in some cases.

It may be useful for people who have ejaculation disorder and are unable to have intercourse either due to stress or psychological issues around the time of formulation.

The IVF process has higher chances of success when doctors can attempt fertilization on a larger number of eggs, for which, a female patient is typically placed on ovary-stimulating medications to make her body produce multiple eggs in one cycle. The eggs are retrieved from the patients ovaries when they are sufficiently mature and combined with the sperm from the semen sample followed by careful observation by an embryologist for about five days.

Also, read: Keep your calm during fertility treatment with these 5 tips

The embryos formed by using this procedure can either be transferred back to the uterus in hopes of conception or frozen for use in a later pregnancy attempt.

IVF may be a good option if you have blocked fallopian tubes, are suffering from endometriosis, unexplained infertility, decreased ovarian reserve, or have male infertility issues. On the other hand, it might not be a viable option for women suffering from ovarian dysfunction, uterine abnormalities, fibroid tumors, or abnormal hormone levels.

Some of the risks associated with IVF include multiple births, especially if more than one embryo is placed into your uterus, premature delivery and low birth weight, ovarian hyperstimulation syndrome, ectopic pregnancy, etc.

Intracytoplasmic sperm injection (ICSI) is one major reason that makes IVF more successful for those with severe male factor disease in comparison to IUI-IntraUterine Insemination. The process makes use of a single sperm injected directly into an egg (as opposed to a normal IVF cycle without ICSI that allows normal mixing in a laboratory dish followed by natural fertilization).

Also, read: You must focus on self-care while undergoing fertility treatment. An expert explains why

IVF in combination with ICSI offers hope to those with very low sperm count, sperm with difficulty moving or penetrating the egg due to its shape or structure or sperm extracted directly from the testicles.

Genetic testing of embryos that are created in the lab is another major benefit of IVF vs IUI. This allows testing of general genetic health of embryos like specific single-gene disorders, such as cystic fibrosis, ensuring they have the proper number of chromosomes and more.

The chance of having multiples such as twins, triplets, and more is considered to be the result of IVF, contrary to the belief, it is more common with a medicated IUI cycle (especially that makes use of injectables), because doctors have less control over how many eggs are released and fertilized.

The chances of success vary for every patient depending on their diagnosis, age, medical history, etc. However, IVF has significantly higher success rates and though it is more expensive, it may be worthwhile for some patients.

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IVF or IUI: Which one to choose for a fertility treatment? - Health shots

Visiongain Reports Ltd

Visiongain has published a new report entitled Molecular Diagnostics Market 2022-2032. It includes profiles of Molecular Diagnostics Market and Forecasts Market Segment by Market Segment by Type (Testing service provider, Diagnostic Manufacturers, OEM & Software Providers), Market Segment by Application (Infectious Disease Diagnostics {COVID-19, Hepatitis, HIV, CT/NG, HAI, HPV, Tuberculosis, Influenza & Others}, Oncology Testing, Genetic Tests and Others), Market Segment by End User (Diagnostic Laboratories, Hospitals and Clinics, Other End Users) plus COVID-19 Impact Analysis and Recovery Pattern Analysis (V-shaped, W-shaped, U-shaped, L-shaped), Profiles of Leading Companies, Region and Country.

The global molecular diagnostics market was valued at US$23,498.2 million in 2022 and is projected to grow at a CAGR of 7.28% during the forecast period 2022-2032.

New Product launches and Enhanced Utilization of BiomarkersIncreasing biomarker applications, new product launches by market players in response to increased government initiatives, increased demand for molecular diagnostic tests, and increased adoption of inorganic growth strategies such as mergers, acquisitions, partnerships, and collaborations by key market players are the major factors expected to drive growth in the U.S., Europe, and Asia Pacific molecular diagnostics markets. The expansion of the molecular diagnostics market is expected to increase research and development for biomarker identification, resulting in the development of new molecular diagnostic tests. For example, the FDA (Food and Drug Administration) granted authorization to Banyan Biomarkers, Inc., a biotech company, in February 2018 for traumatic brain injury, for the first diagnostic blood test. Molecular diagnostics provides precise and effective results and has critical applications in disease diagnosis. However, one of the major factors impeding market growth is the high cost of molecular tests.

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Molecular Diagnostics (MDx) Market Report 2022-2032

How has COVID-19 had a significant positive impact on the Molecular Diagnostics Market?

Recent outbreak of COVID-19 impelled the diagnostics industry into quick action, with an emergence to produce novel and rapid diagnostics kits for covid-19 detection. The pandemic led to a spike in the revenue of companies operating in the Software Providers segment. For instance, in April 2021, a 59% rise in revenue was reported by Thermo Fisher Scientific, owing to the diagnostics division that delivered 150% growth. However, with significant number of vaccinations on a global scale, the demand for molecular diagnostics for COVID-19 testing is set to decline in the years to come.

COVID-19 is more common in the elderly population due to decreased immune function, multimorbidity, and physiological changes associated with ageing. The rising geriatric population globally is increasing the risk of getting numerous diseases including obesity, neurological disorders, and diabetes. As per a UN report, in 2020, there were about 727 million people aged 65 years & above globally. Furthermore, the number of people aged 80 and up is expected to double by 2050, reaching more than 1.5 billion. The fact that the global geriatric population is expected to grow over the forecast period is expected to be a significant market driving factor.

How will this Report Benefit you?

Visiongains 236-page report provides 106 tables and 173 charts/graphs. Our new study is suitable for anyone requiring commercial, in-depth analyses for the global vaccine contract manufacturing market, along with detailed segment analysis in the market. Our new study will help you evaluate the overall global and regional market for Molecular Diagnostics Market. Get financial analysis of the overall market and different segments including type, application and end user, and company size and capture higher market share. We believe that there are strong opportunities in this fast-growing vaccine contract manufacturing market. See how to use the existing and upcoming opportunities in this market to gain revenue benefits in the near future. Moreover, the report will help you to improve your strategic decision-making, allowing you to frame growth strategies, reinforce the analysis of other market players, and maximise the productivity of the company.

What are the Current Market Drivers?

Recent Advancements in PCR and real time PCR Molecular DiagnosticsPolymerase chain reaction (PCR) molecular diagnostics have seen a significant increase in popularity in recent years. PCR tests are extremely effective at detecting pathogenic DNA for a variety of infectious diseases. Attempts are being made to broaden the scope of PCR and RT-PCR tests in order to find treatments for life-threatening diseases.

The COVID-19 pandemic has increased the market for PCR and real-time PCR molecular diagnostics. Real-time (qPCR) and digital (dPCR) PCR tests have been used to detect and diagnose potential cases in a variety of healthcare settings. PCR tests have been widely used by healthcare providers due to their high sensitivity. As a result of these trends, the global PCR and real-time PCR molecular diagnostics market is expected to soar to new heights, surpassing an already impressive revenue. Real-time PCR tests are likely to remain profitable due to their higher sensitivity, timely processing of test results, greater precision, and lower proneness to contamination, thereby limiting error margins. The use of RT-PCR tests has increased significantly in the aftermath of the COVID-19 pandemic. Similarly, as smart technology becomes more prevalent in the healthcare sector, digital PCR tests are gaining traction. Calibration against standards is not required for digital PCR tests, which is important for RT-PCR tests. Furthermore, dPCR tests can detect more samples than traditional PCR tests.

Because of the high prevalence of sexually transmitted infections, respiratory infections, and hepatitis C and B, testing for infectious diseases is expected to grow rapidly. Following the COVID-19 pandemic, the PCR and real-time PCR molecular diagnostics market is expected to gain tremendous traction

Rising Outbreaks of Viral and Bacterial Pandemic Globally

The molecular diagnostics market is currently gaining traction due to the fact that molecular tests are routinely used for the diagnosis of cancer and other infectious diseases. The rise in demand for Molecular Diagnostics is primarily due to the increasing prevalence of infectious diseases, such as the recent COVID-19 outbreak and the rising global burden of cancers, Lyme diseases, and others. Furthermore, other factors such as technological advancements and rapid product approvals in the Molecular Diagnostics product arena are expected to drive the Molecular Diagnostics market. Furthermore, product approval for the detection and differentiation of HIV infection for personalised HIV management will boost the molecular diagnostics market.

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Molecular Diagnostics (MDx) Market Report 2022-2032

Where are the Market Opportunities?

Expanding Technological Advancements in Precision MedicineOn a global scale, medicine is understood differently, and this scenario is changing dramatically as healthcare moves toward precision medicine; it will no longer take a one-size-fits-all approach, but rather one that is more targeted and based on each patient's individual clinical, molecular, and lifestyle data. Key players are widely collaborating with the precision medicine community to advance in molecular diagnosis and treatment by leveraging the global infrastructure and knowledge to deliver industry-leading capabilities ranging from population profiling to targeted therapeutics.

The widespread use of precision medicine will usher in a new era in healthcare and diagnostics in which patients will receive the care they require, particularly for life-threatening conditions. Precision oncology, which makes use of next-generation sequencing (NGS) technology to speed up the selection process.

Competitive LandscapeThe major players operating in the molecular diagnostics market are Abbott Laboratories Inc, F. Hoffmann-La Roche Ltd., Hologic Inc., Qiagen N.V., Becton, Dickinson and Company, Cepheid, Siemens Medical Solutions Inc., Danaher Corp., Agilent Technologies Inc., Exact Sciences Corp, Abacus Diagnostica Oy [Uniogen], PerkinElmer, Inc., bioMrieux SA, Thermo Fisher Scientific. These major players operating in this market have adopted various strategies comprising M&A, investment in R&D, collaborations, partnerships, regional business expansion, and new product launch.

Recent Developments

In May 2021, Roche acquired GenMark Diagnostics for a sum of USD 1.8 billion. This acquisition will aid in the expansion of Roche's molecular diagnostics portfolio. Furthermore, the company completed the acquisition of TIB Molbiol Group in December 2021. TIB Molbiol Group has approximately 45 CE-IVD approved assays for infectious disease diagnosis, inherited genetic testing, transplant medicine, and haematology testing.

In June 2021, Hologic, Inc. (US) completed the acquisition of Mobidiag Oy (Finland) which is an innovator in acute care molecular diagnostic testing. This strategy will help the company in expanding its molecular diagnostics product portfolio.

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Visiongain is one of the fastest-growing and most innovative independent market intelligence providers around, the company publishes hundreds of market research reports which it adds to its extensive portfolio each year. These reports offer in-depth analysis across 18 industries worldwide. The reports, which cover 10-year forecasts, are hundreds of pages long, with in-depth market analysis and valuable competitive intelligence data. Visiongain works across a range of vertical markets with a lot of synergies. These markets include automotive, aviation, chemicals, cyber, defence, energy, food & drink, materials, packaging, pharmaceutical and utilities sectors. Our customised and syndicatedmarket research reportsoffer a bespoke piece of market intelligence customised to your very own business needs.

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Global Molecular Diagnostics Market is projected to grow at a CAGR of 7.28% by 2032: Visiongain Reports Ltd - Yahoo Finance

Joseph E. Sullivan, MD: Hello, and thank you for joining this NeurologyLive Cure Connections program titled Dravet Syndrome and Lennox-Gastaut Syndrome: Perspectives from the Patient Journey. Dravet syndrome is a rare and severe form of epilepsy that begins in infancy and continues throughout the lifetime. It is characterized by frequent often prolonged seizures that can be provoked by fever and may affect one side of the body. The majority of patients with Dravet Syndrome have pathogenic variants in the SCN1A gene.

Lennox-Gastaut Syndrome, often abbreviated as LGS, is another epilepsy syndrome that presents in childhood and persists throughout adolescence and adult years. Patients often experience multiple types of seizures, including stiffening of the body or temporary loss of muscle tone and consciousness, both of which often result in a fall. LGS can be caused by a variety of underlying conditions. In many cases, no cause can be identified.

My name is Dr. Joseph Sullivan, and I'll be your host today. I am a pediatric neurologist at the University of California, San Francisco Pediatric Epilepsy Center in San Francisco, California. I'm joined today by a colleague and friend Dr. Kelly Knupp, who's a pediatric neurologist at the University of Colorado School of Medicine in Aurora, Colorado. We are also joined by Mary Anne Meskis, also a friend and colleague, who is the founding member of the Dravet Syndrome Foundation, and her son has Dravet Syndrome. And lastly, we are joined by Dr. Tracy Dixon-Salazar, also a colleague and friend, who is executive director of the LGS Foundation; Dr. Dixon-Salazar is a neuroscientist and geneticists, and her daughter has LGS. Thank you all for joining me today; it's great to see you all. Let's get started with our program.

Our first section is going to be on Dravet Syndrome, and I really want to first start out with an overview, and how we start to suspect the diagnosis. Then, we will start to get into more of the details of why this is a syndrome, why it's more than just seizures, and how all these different aspects of the syndrome have an impact on quality of life. Kelly, maybe you can just start us off by giving an overview of Dravet Syndrome, how common it is, and the early symptoms and signs that we should be aware of.

Kelly Knupp, MD: Dravet Syndrome is a developmental epileptic encephalopathy that usually starts in the first year of life. It is most commonly characterized by seizures, of which there can be of multiple types, many of which are provoked by changes in temperature. We also see intellectual impairment that may actually be more apparent as children get older, which I think is really important when we're thinking about diagnosis, because we may not see that component early on. We can also see a progressive gait disorder, as well as behavioral disorders and a number of other comorbidities.

One of the characteristics of this syndrome is that it's often associated with a pathogenic variant in a gene called SCN1A. The vast majority of children do have one of those genetic diagnoses, but not all children. That's important to keep in mind, as well that there's a clinical syndrome, but we may not find a genetic mutation that goes along with it. It is also important to know that there are some children who have a pathogenic variant in SCN1A, who don't actually have Dravet syndrome. It's important to look for both of those things: the clinical syndrome as well as the gene mutation. Initially, we thought this wasn't very common, that it was present in about one in 40,000 children. Some recent data suggest that it's more common than that, perhaps about one in 15,000. It is something that we see in most practices, and I worry when people tell me that they haven't seen Dravet Syndrome in their practice, because I think they're probably missing it.

Joseph E. Sullivan, MD: Absolutely. We are of similar age and trained at similar times. When I was in training, I probably saw one child with Dravet Syndrome, which means we missed a lot of them. Its almost embarrassing, but you can see how it happens. We are told as pediatricians that febrile seizures are common and many of these kids are told not to worry about it. Could you go into a little bit more detail? In 2002, with everything that we know, when should we not be thinking this is just a febrile seizure?

Kelly Knupp, MD: I follow a child in my practice, and I remember having a conversation with this childs mom about how common febrile seizures were. I felt really comfortable that this was febrile seizures, and, in the end, it was not. Many of us have had that experience. In my mind, any child who's had a prolonged febrile seizure, particularly if it's one side shaking more than the other a hemiconvulsive seizure, we should think about doing genetic testing. For any child who's had 2 or more febrile seizures, if one of them has been prolonged, we need to think about doing genetic testing. I'm on the fence about the children who have had 2 simple febrile seizures and otherwise are doing well, because we know that about one-third of children who have a first febrile seizure will go on to have a second febrile seizure. But, if there's something like a prolonged seizure, or a focal nature to the seizure, we have to consider doing genetic testing.

Joseph E. Sullivan, MD: Age is a factor, too. We're told that febrile seizures occur at six months, if a patient has a simple febrile seizure at six months and then another simple febrile seizure at seven months, that's a worry to me.

Kelly Knupp, MD: That would start to make me a little anxious, too, I agree. Having them so close together would definitely worry me too.

Joseph E. Sullivan, MD: Classically, we used to think that Dravet syndrome only presented at less than one year of age. But now, with the ability to get genetic testing, we understand the evolution of a syndrome a little more, and it's clear that patients are presenting at a later age, although there still is kind of this sweet spot time, or age, when kids present.

Kelly Knupp, MD: Even for those older children, their parents usually are able to describe some sensitivity to change in temperature, which may not necessarily be a febrile illness, but can be other things, such as getting in and out of the bathtub. Whenever I hear somebody who describes their child having seizures when getting out of the bathtub, we should test for Dravet syndrome. Or for patients going in and out of the grocery store or Target, where that heat is blasting down on top of them, as soon as I hear that in history, I always need to look closer. Genetic testing for most of our patients in this age group is so readily available, even if insurance doesn't cover it. We have programs like Behind the Seizure, where it is relatively straightforward to get genetic testing in this cohort. Unfortunately, that doesn't help our older patients and adults, where this history may be difficult to tease out.

Transcript Edited for Clarity

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Overview and Prevalence of Dravet Syndrome - Contemporary Pediatrics

Kristin Beasley is descended from some of the Big Horn Basins first settlers.

My ancestors were tough I come from a strong heritage, she said. It takes grit to settle a sagebrush area into a town. My family still lives in Emblem and Burlington.

It also takes toughness and grit to live with breast cancer.

Beasley was diagnosed with stage 4 breast cancer in 2019 and has since beat the cancer into remission while continuing to work, be a mother and a wife.

Now shes part of a campaign for Cody Regional Health. It was at CRHs Big Horn Basin Cancer Center where she got to ring the bell signifying the end of her tough treatments there, although it was not the end of the struggle, just a roadblock in a survivors journey.

There is a lot of fear and anxiety, she saidlast fall during a break in her workday at the Department of Family Services. And I juggle a lot work, kids, a monthly blood draw and doctor appointments. But I choose to be positive. There has been a lot of prayer and faith. A lot of friends supporting me. A lot of faith.

My story isnt over. And I choose to live and love while I can.

Cancer survivors often write stories about the process and their thoughts. This is Beasleys story:

I felt a lump and finally went to the doctor. I had a mammogram and ultrasound, followed by a biopsy in December of 2019. The results of my biopsy came back on a Monday afternoon. My husband and I met with the doctor on Tuesday to discuss options and I was in the O.R. having a lumpectomy on Wednesday. The margins of the lumpectomy werent completely clear, so I opted to have a complete mastectomy. Between surgeries, my family and I were able to go on a wonderful vacation (that was already planned) to Kennedy Space Center and Disney World at the beginning of January 2020. I came back and really started this journey. I had a mastectomy in January 2020. I finally met with an oncologist. We chose the chemo regimen I was going to have. I finally convinced her to do a CT scan. That CT showed findings in my lymph nodes and sternum. I read the CT results and called my doctor because she didnt tell me about the findings in the sternum.

That weekend was horrible. Every test I had taken was showing something worse and worse. The feeling of being told you have stage 4 cancer, I cant even put into words. The fear of what will happen can be overpowering. Although I felt just fine, the tests kept saying this disease is progressed. At this point, I didnt know how fast this would progress, how long I would live if I would see my kids graduate from high school. I choose to focus on the positive and just keep going because otherwise the fear and anxiety becomes overpowering.

Through all this, although I was extremely scared, I felt calm. A calm I can only describe as Gods love and peace. That love and peace continue. It doesnt always make it easier, but I also know its going to be okay.

I quickly switched doctors to the Cancer Center. They got me in to see a doctor very quickly. I had a biopsy of the sternum which confirmed that breast cancer was indeed in my sternum. Since I was so young (I was 42 when I was diagnosed), we did genetic testing. This showed that I was BRCA 2 positive. Although I didnt realize I had a family history, my disease is genetic. My mother and both sisters have also had genetic testing and are also positive. Luckily they can monitor and take measures to not get this disease as I have.

My team of doctors and I decided to begin my treatment with radiation. A lot of cancer patients start with chemo and then have radiation. I had radiation in April of 2019. School had just shut down for Covid, and my fourth and sixth-grade daughters were doing home school. I was working full time, and going to my radiation appointments during my lunch hour. I would go home after work to be a mom and wife cleaning and cooking. All the while worrying about my disease and how it affects my kids and if treatment would be effective. I rang the Bell of radiation May 1, 2020. To me, instead of feeling like the end of my journey, it felt like the beginning. The radiation staff and Dr. Lord are amazing. They made a very uncomfortable, hard situation tolerable.

After I finished radiation my ovaries were completely shut down. This needed to happen because my cancer is hormonal. I couldnt have a hysterectomy because elective surgeries were not happening at that point. I was put into instant menopause. Complete with hot flashes, hormonal rages (I would completely lose it on my poor dog laying on my bed at night) and always sleeping hot. I also began Ibrance daily oral chemo, and an infusion for bone strength once a month. I continue that regimen. I go to work, church, kids activities and live with this disease. Cancer and the treatment affect everyone differently. I havent missed work because I was sick Somehow I have pushed through.

I had a hysterectomy a year ago in October 2020. This surgery was hard to recover from. I took one week off work and went back part-time the next week. Then I was back full time every day. But it took a long time to get my energy back. Now to monitor my disease I have a PET scan every six months (Ive had three so far), a CT scan once a year and an MRI every year. I also see a dermatologist for a full body skin check. The BRCA 2 gene carries an increased risk for breast, ovarian, pancreatic and melanoma.

The doctors and nurses at the cancer center are amazing. Many I know and are friends with. Their love and support have helped get me through this. Since I walked into that building, I knew they had my back. In fact, one of the nurses is my friend. When she heard about my experience with my first doctor, she called me and told me I needed to be at the cancer center. They could take care of me, and I needed to switch doctors. Her concern for me is a major reason I switched to the cancer center. ALL the staff doctors, nurses and front desk are amazing. They really care about you, and I know they absolutely want to give me the best care they can.

The quotes I live by: Keep trying, keep trusting, keep believing. Heaven is cheering you on today, tomorrow, and forever. Jeffrey R Holland and You never know how strong you are until being strong is the only choice you have. - Bob Marley

Visit link:
'It takes toughness and grit' Beasley shares on her breast cancer battle, survivor's journey - Cody Enterprise

One of the tests is analyzed in China and both mother and fetal DNA might be accessed by the Chinese government.

If the Chinese authorities really want to, they will get access to the genetic data. This is the general relationship between Chinese companies and the state. You cannot know what happens to your own and the unborn childs DNA, Mette Halskov Hansen, professor in Chinese Studies at the University of Oslo, tells the Norwegian Biotechnology Advisory Boards journal.

In Norway, genetic testing types are more limited than Denmark and Sweden.

The possibility of Chinese authorities access to Norwegian DNA comes from the fact that one of the NIPT tests which are broadly used in Denmark and Sweden, Nifty, has been developed and analyzed by the Chinese company BGI.

BGI writes that Chinese authorities are given access to genetic data if national security considerations dictate.

Source: https://sciencenorway.no/china-dna-foetus/the-norwegian-consumer-council-warns-that-norwegian-dna-is-being-sent-to-china/2068572

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Warning to pregnant Norwegian women as their DNA can be accessed by Chinese authorities - ScandAsia.com

DUBLIN--(BUSINESS WIRE)--The "Global Molecular Diagnostics Devices And Equipment Market Report 2022" report has been added to ResearchAndMarkets.com's offering.

The global molecular diagnostics devices and equipment market is expected to grow from $24.19 billion in 2021 to $27.91 billion in 2022 at a compound annual growth rate (CAGR) of 15.3%. The market is expected to grow to $46.87 billion in 2026 at a compound annual growth rate (CAGR) of 13.8%.

Major players in the molecular diagnostics devices (or) equipment market are Roche Ltd, Hologic, QIAGEN, Abbott, Danaher Corporation, Bio-Rad Laboratories, Siemens Healthcare, Becton Dickinson and Company, Cepheid Inc, and bioMerieux S.A.

The molecular diagnostics devices (or) equipment market consists of sales of molecular diagnostics devices and related services. Molecular diagnostics devices are used to diagnose infectious diseases and perform screening by detecting specific sequences in DNA or RNA at the molecular level. It helps doctors to prescribe more accurate therapeutic interventions in the early stages of a disease.

The main products of molecular diagnostics devices (or) equipment are instruments, reagents, and consumables. A reagent is a substance that is used for causing a chemical reaction. Reagents are used to indicate the presence of another substance.

The technologies involved are DNA (deoxyribonucleic acid) sequencing, polymerase chain reaction, isothermal nucleic acid amplification technology, transcription-mediated amplification (TMA), in situ hybridization, microarrays, mass spectrometry, and others (southern blotting, northern blotting, and electrophoresis).

The various applications are cancer, pharmacogenomics, genetic testing, infectious disease, prenatal, neurological disease, and cardiovascular disease that are used by various end-users such as diagnostic laboratories, hospitals, and others (nursing homes, blood banks, point of care).

Asia Pacific was the largest region in the molecular diagnostics devices (or) equipment market in 2021. Western Europe was the second largest market in molecular diagnostics devices (or) equipment market. The regions covered in this report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, and Africa.

The growth in the molecular diagnostic devices and equipment market is attributed to factors such as the rapid rise in various bacterial and viral epidemics. The increase in the spread of diseases increases the demand for early and improved diagnostic methods.

To improve the technology to enable the early diagnosis of such diseases, the Government and different organizations extend their financial support towards the major key players of the industry. For example, according to the reports from Centres for Disease Control and Prevention (CDC) US, as of March 2019, 72 Zika virus disease cases were reported in U.S state and 148 Zika virus disease cases reported in US Territories.

Thus, the rise of such chronic diseases serves as a prime driver for the players in the industry to develop more accurate and sophisticated diagnostic devices and equipment. Following the increase in demand for early diagnosis of Zika virus, Co-Diagnostics, Inc. in February 2019 launched its first multi-disease molecular diagnostic test for dengue, chikungunya, and Zika.

The regulatory process involving the approval of molecular diagnostic tests is often slow. The lack of clear definition coupled with constant changes in the regulations is a challenge for companies developing these kits. In developing nations such as India and China lack of a well-defined regulatory framework negatively impacts the market, irrespective of the presence of a large population.

In the US market, because of the changes in the rules and regulations, the products already in the market may also be required to go through Food and Drug Administration (FDA)'s pre-marketing approval process. For example, CLIA (Clinical Laboratory Improvement Amendments Act) in the US certifies the validity of laboratory-based tests but it does not regulate the clinical validity of molecular diagnostic tests. This means that it does not control whether these results are clinically correct. This argument puts a restraint on the industry and opens an argument that FDA should play a greater role in overseeing laboratories.

The major players in the molecular diagnostic industry are focusing on developing automated solutions for devices and equipment used for molecular diagnostic processes. Automation of the process will help to enhance the productivity and consistency of the whole diagnostic process. Computerization of the diagnostic process gives reliable and efficient test results that manual testing by various experts does not.

The major players of the industry are using nanotechnology-based Oral Fluid Nano Sensor Test (OFNASET). The test uses a microfluidic-based nanosensor for the detection of oral cancer biomarkers in saliva. To keep up with the trend of automation and accuracy, Roche, created cobas connection modules (CCM) to improve scalability and sample-flow efficiency by allowing samples to automatically move between different systems and instruments. Thus, creating a fully automated workflow.

The molecular diagnostic devices in the US are approved by Food and Drug Administration's (FDA) Center for Devices and Radiological Health (CDRH). These diagnostics devices are generally approved with an accompanying assay, to evaluate their safety and effectiveness or substantial equivalence regarding the assays they run and the assay's defined performance parameters.

However, the same instruments do not require FDA approval or clearance when used for basic scientific research purposes. The European regulatory landscape has become more stringent and technically challenging for medical device companies.

The introduction of four different risk classes of diagnostic devices i.e. classes A-D. Class A refers to the lowest risk tests and class D refers to the highest risk test such as HIV testing, blood grouping, and prenatal testing. Most of the genetic testing is classed into class C. The products bearing a CE mark, European approved tests, are safe to use, and are in full compliance.

Key Topics Covered:

1. Executive Summary

2. Molecular Diagnostics Devices And Equipment Market Characteristics

3. Molecular Diagnostics Devices And Equipment Market Trends And Strategies

4. Impact Of COVID-19 On Molecular Diagnostics Devices And Equipment

5. Molecular Diagnostics Devices And Equipment Market Size And Growth

5.1. Global Molecular Diagnostics Devices And Equipment Historic Market, 2016-2021, $ Billion

5.1.1. Drivers Of The Market

5.1.2. Restraints On The Market

5.2. Global Molecular Diagnostics Devices And Equipment Forecast Market, 2021-2026F, 2031F, $ Billion

5.2.1. Drivers Of The Market

5.2.2. Restraints On the Market

6. Molecular Diagnostics Devices And Equipment Market Segmentation

6.1. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

6.2. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

6.3. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By Technology, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

6.4. Global Molecular Diagnostics Devices And Equipment Market, Segmentation By Application, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

7. Molecular Diagnostics Devices And Equipment Market Regional And Country Analysis

7.1. Global Molecular Diagnostics Devices And Equipment Market, Split By Region, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

7.2. Global Molecular Diagnostics Devices And Equipment Market, Split By Country, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

8. Asia-Pacific Molecular Diagnostics Devices And Equipment Market

8.1. Asia-Pacific Molecular Diagnostics Devices And Equipment Market Overview

8.2. Asia-Pacific Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

8.3. Asia-Pacific Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

9. China Molecular Diagnostics Devices And Equipment Market

9.1. China Molecular Diagnostics Devices And Equipment Market Overview

9.2. China Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F,$ Billion

9.3. China Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F,$ Billion

10. India Molecular Diagnostics Devices And Equipment Market

10.1. India Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

10.2. India Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

11. Japan Molecular Diagnostics Devices And Equipment Market

11.1. Japan Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

11.2. Japan Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

12. Australia Molecular Diagnostics Devices And Equipment Market

12.1. Australia Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

12.2. Australia Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

13. Indonesia Molecular Diagnostics Devices And Equipment Market

13.1. Indonesia Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

13.2. Indonesia Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

14. South Korea Molecular Diagnostics Devices And Equipment Market

14.1. South Korea Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

14.2. South Korea Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

15. Western Europe Molecular Diagnostics Devices And Equipment Market

15.1. Western Europe Molecular Diagnostics Devices And Equipment Market Overview

15.2. Western Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

15.3. Western Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

16. UK Molecular Diagnostics Devices And Equipment Market

16.1. UK Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

16.2. UK Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

17. Germany Molecular Diagnostics Devices And Equipment Market

17.1. Germany Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

17.2. Germany Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

18. France Molecular Diagnostics Devices And Equipment Market

18.4. France Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

18.5. France Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

19. Eastern Europe Molecular Diagnostics Devices And Equipment Market

19.1. Eastern Europe Molecular Diagnostics Devices And Equipment Market Overview

19.2. Eastern Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

19.3. Eastern Europe Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

20. Russia Molecular Diagnostics Devices And Equipment Market

20.1. Russia Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

20.2. Russia Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

21. North America Molecular Diagnostics Devices And Equipment Market

21.1. North America Molecular Diagnostics Devices And Equipment Market Overview

21.2. North America Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

21.3. North America Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

22. USA Molecular Diagnostics Devices And Equipment Market

22.1. USA Molecular Diagnostics Devices And Equipment Market Overview

22.2. USA Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

22.3. USA Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

23. South America Molecular Diagnostics Devices And Equipment Market

23.1. South America Molecular Diagnostics Devices And Equipment Market Overview

23.2. South America Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

23.3. South America Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

24. Brazil Molecular Diagnostics Devices And Equipment Market

24.1. Brazil Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

24.2. Brazil Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

25. Middle East Molecular Diagnostics Devices And Equipment Market

25.1. Middle East Molecular Diagnostics Devices And Equipment Market Overview

25.2. Middle East Molecular Diagnostics Devices And Equipment Market, Segmentation By Product, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

25.3. Middle East Molecular Diagnostics Devices And Equipment Market, Segmentation By End User, Historic and Forecast, 2016-2021, 2021-2026F, 2031F, $ Billion

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Global Molecular Diagnostics Devices and Equipment Market Report 2022: A $46.87 Billion Market in 2026 - Long-term Forecast to 2031 -...

Affected individuals treatment can be guided by the discovery of hereditary prostate cancer, which may also have an influence on cancer screening and monitoring for patients and their families. For a study, researchers sought to identify the variables that influenced men with prostate cancers choice to obtain genetic testing as well as how, why, and with whom the findings of genetic tests are discussed.

In order to learn more about the reasons for genetic testing and how families communicated the results, they questioned 113 patients with prostate cancer who got cancer genetic counseling at a tertiary medical facility in the United States. The 3 factors most frequently cited as slightly or very important by those who underwent genetic testing were: (1) learning about my familys potential cancer risk (98%); (2) learning information that might inform cancer treatment (93%); and (3) learning about my own potential for future cancers (92%).

Male first-degree relatives received more of the participants DNA test results than female first-degree relatives, but there was no discernible difference (P = 0.103). The research may indicate gendered disparities in how families communicated the findings of genetic testing. The findings pointed to the urgent need for genetic counselors to explain to clients how the results of genetic tests would affect both male and female relatives. It was necessary to conduct further studies on motivation and family communication around genetic test findings in various cohorts.

Reference: onlinelibrary.wiley.com/doi/10.1002/jgc4.1624

See the rest here:
Hereditary Prostate Cancer Genetic Testing: Motivation & Family Communication - Physician's Weekly

During a pregnancy, women are offered prenatal genetic screening and diagnostic testing to determine whether a fetus is healthy or has certain genetic disorders or anomalies.

This information can help patients and their doctors prepare for the pregnancy. But some opt out of such testing, believing that babies should be born regardless of potential abnormalities.

For those who do choose to undergo such testing, maternal-fetal medicine specialists and genetic counselors usually work closely with the pregnant person or couple to explain in detail what the results mean for a birth, for mother and child, if a genetic disorder or fetal anomaly is detected. These health care providers can also provide the pregnant person or couple with guidance on what options are available to them after a diagnosis, which can include aborting apregnancy. That option, however, is limited or no longer available to women in many U.S. states.

Prenatal tests cant diagnose a genetic condition before 6 weeks

Without the protection of Roe v. Wade, the 1973 Supreme Court decision that legalized abortion nationwideand was overturnedin June, the procedure has become illegal or heavily restricted in at least 14 states. Six states Mississippi, Missouri, Tennessee, North Dakota, South Dakota and Ohio prohibit abortions when the fetus may have a genetic anomaly, and infive of those states, its now nearly impossible, because it is banned at about six weeks. This is so early in a pregnancy that many women at that point dont even know they are carrying a child.

A person's first [doctors] appointment in pregnancy doesn't usually happen until eight or 10 weeks, so never mind the rest of the story. That's when obstetric care begins, said Philip D. Connors, lead genetic counselor at Boston Medical Center.

Three [percent] to 4% of all pregnancies are going to be affected by some sort of complication related to a difference in fetal or embryonic development, a genetic condition. And essentially none of those can be screened for or diagnosed until after the gestational age limits that are being placed by some of these really discriminatory laws, Connors added.

Story continues

Dr. Tani Malhotra, a maternal-fetal medicine specialist in Cleveland,Ohio, a state where abortions are now illegal after six weeks and where there are no exceptions for cases of rape, incest or fatal fetal anomalies, said it is impossible to assess whether there are any issues with the fetus at such an early point in pregnancy.

The size of the embryo at six weeks is somewhere between 6 to 7 millimeters. It's less than 1 centimeter, and that centimeter is like the size of my finger, right? So it's just impossible for us to be able to detect abnormal findings on an ultrasound at that point, Malhotra said.

KatieSagaser, director of genetic counseling at Juno Diagnostics, a women's health company, told Yahoo News: Theres no genetic testing or screening that can be done prior to six weeks.

One method of testing which she said has revolutionized the landscape of prenatal chromosome screening and is mostly used today is a noninvasive prenatal screening technology known as NIPT or NIPS. This can detect genetic variations as early as nine weeks into pregnancy, using a blood sample from the mother. But the test, Sagaser said, can only indicate if there is a potential problem, and does not replace diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, which study the cells from the fetus or placenta and can confirm a diagnosis.

The earliest a CVS diagnostic test can be performed is at the 10th week of pregnancy. Amniocentesisis usually conducted at between 15 and 20 weeks of pregnancy, but can technically be done up until a person gives birth, according to the American College of Obstetricians and Gynecologists.

WASHINGTON, DC - JUNE 24: Abortion-rights activists gather in front of the Supreme Court building following the announcement to the Dobbs v Jackson Women's Health Organization ruling on June 24, 2022 in Washington, DC. (Photo by Nathan Howard/Getty Images)

Aborting a pregnancy because of genetic anomalies

As prenatal screening testing like NIPS has become more common, selective terminations involving genetic conditions have too. Some studies have shown that parents often decide to terminate a pregnancy, even after finding a mild form of a genetic condition, including Turner and Klinefelter syndromes.

Down syndrome is the most common chromosomal disorder in the U.S., and about 6,000 babies are born with it in the U.S. each year, according to the Centers for Disease Control and Prevention.

A published review of studies, which included 24 publications studying pregnancy terminations after a prenatal diagnosis of Down syndrome in the U.S., found that 67% ofthose pregnancies end in abortion.

Terminating a pregnancy after the 2nd trimester because of medical complications

Its notable, however, that the majority of abortions in the U.S.(91%) occur at or before 13 weeks of gestation. Abortions late in pregnancy are rare,butMalhotra said some of the main reasons why they do happen include delays and other barriers in obtaining abortion care, or after discovering medical complications. Those complications often include the discovery of lethal fetal anomalies, which can be detected during a fetal anatomy scan that is usually performed at around 20 weeks of pregnancy. Terminations at this stage, Malhotra said, are difficult and traumatic, because these pregnancies are often desired.

It's really tragic, as you're telling these patients who have been continuing their pregnancy. They're at 20 weeks. They're excited about the pregnancy. They're planning their baby showers. They come to that ultrasound hoping to be able to find out the sex of the baby and you tell them this devastating news, that there is an abnormality that is either not compatible with life, or is going to have significant impact on the quality of life after birth, the Ohio doctor said.

Malhotra told Yahoo News that Ohios new abortion law has made her job even tougher, because she also has to tell patients in these situations who wish to terminate the pregnancy that they cannot receive such care in their state.

It is just horrible, because not only are you giving them this tragic, heartbreaking news, but you're stigmatizing their care, because you're saying, Oh, this thing is illegal here, but you could go to another state. So they have to travel to another state to do something that's illegal, which is a part of medical care, Malhotra said. If they're not able to go out of the state, then we're asking them to take on risks associated with a pregnancy, which we know inherently, pregnancy is not risk-free.

In addition, she explained, she needs to inform these patients that they must act rapidly. Abortions later in a pregnancy are more complex and also more expensive. Medication abortion, which can be taken at home, can only be safely used in the first 70 days, or 10 weeks of pregnancy. After that, women need a surgical abortion, which typically takes about two days and requires inpatient care. A patient who needs to go out of state to receive care must therefore also take into account additional costs related to travel and lodging.

Because of the abortion bans that have gone into effect in the Midwest, surrounding states where the procedure is protected have seen an increase in patients, Malhotra said. They are really backed up, currently complicating the scheduling of an abortion, she said.

Another important reason to act quickly in these situations, according to Malhotra, is because most states do not permit abortions after 24 weeks when a fetus has reached viability and can survive outside the uterus. According to the Guttmacher Institute, a research group focused on reproductive health, 17 states impose a ban at viability.

Little research has been conducted on what happens to women who are unable to terminate a pregnancy because of a fetal genetic condition or anomaly. However, one study conducted by the University of California, San Francisco, that tracked 1,000 women unable to get an abortion because they had passed the gestational limits, found they were more likely to fall into poverty, as well as have worse financial, health and family outcomes, than those who had terminated their pregnancies.

Opponents of abortions conducted as a result of screening for disabilities believe that such procedures are unjust, because all human beings have inherent value from the moment of conception. Malhotra, on the other hand, told Yahoo News that she finds it absolutely horrible to put patients in a position where they dont have a choice anymore.

There are multiple reasons women may choose to terminate a pregnancy because of a genetic condition or anomaly, ranging from the emotional and financial cost of raising a disabled child to the effect that this may have on the existing children in a family, as well as the feeling that it is cruel to give birth to a child who may need a lifetime of constant medical intervention.

Connors said that terminations due to genetic or fetal anomalies are comparatively rare, but are often emphasized unduly in conversations on abortion and abortion care. It inadvertently leads to a narrative about what makes a good or a bad abortion, he said.

Sagaser agreed, saying:There's no benefit to us as a society to say, Oh, there's this one population that really needs access to abortion care more so than other people.'

Everyone deserves to be able to make the choices that are right for them and their family in that unique situation, she added.

Read more:
Restrictive abortion laws are limiting the options parents have after receiving genetic test results, experts say - Yahoo Philippines News

As the heat of our coffee radiated into our fingertips, we sat in a secluded corner of a frequented coffee shop both with our laptops open, working on our most recent project, both of us deep in thought.

As the air in the room became saturated with the smell of roasted coffee beans and the swirls of conversation mixed with the pattern on the surface of the coffee cup, many a topic was discussed, mainly concerning work and studies.

But, one stood out.

At the time of the conversation, the Bill for IVF genetic testing was being discussed in Parliament waiting for approval.

The Bill has been shrouded with controversy over the inclusion of genetic testing on embryos to determine whether they would be born with eight genetic conditions as determined in the Bill.

Reading for a Masters in Disability Studies, Lara Darmanins opinion on certain matters definitely carries more weight than that of the average person speaking from what he or she has read on the internet.

A fruitful conversation into what the choice for genetic testing means for our future started between Darmanin and this author.

One of the first topics was definitely the higher risk children born through the natural form of conception carry when having certain genetic disabilities.

As the expert on the subject, instinctively the question to ask Darmanin was what this means for the future of children. My personal opinion is that once we have named these eight conditions, there already is a certain amount of discrimination for people who live with these conditions and were born with them because they werent screened.

There is a bit of a feeling that this Bill seeks to remove these eight genetic conditions from the dictionary and make them a problem of the past. The moment choice is added to the equation, the term disability will definitely not be the choice taken, Attard believes.

Darmanin fears that the future will become one in which the stigma faced by people with disabilities will only increase. We are risking a future where disability will become your own burden because it was your choice to have a child with the said disability. This will be more emphasised if the genetic tests in the IVF are increased.

Lets for a moment take a specific scenario; one of the eight genetic conditions tested for in IVF embryos is Huntington's disease. In Huntingtons case, parents can be tested before the IVF process begins in order to see if they can pass on the disease to their children or not.

This process is totally different than going through the IVF process and testing the embryos because the moment you test the embryos there is the option of choice and this is what blurs the lines.

It depends a lot on what a person believes to be the moment of conception or life. If we are choosing which life to carry based on tests to show which conditions the baby will have is what doesnt sit well with me, Darmanin said.

Attard believes to be truth in that, the moment choice is added to the equation, no one is going to choose the harder path and in no way, shape or form is this a derogatory statement to parents and couples who choose not to carry certain pregnancies because of a number of complications but at the end of the day all parents want a healthy child and rightly so.

What is for certain is that the issue being discussed is not always an easy one but one has to keep in mind the repercussions of the future of our decisions.

We live in a society where we are constantly putting ourselves in the us and them categories. In Malta this is even more prevalent; we segregate ourselves according to political parties, saints during village feasts and so on. We even create an us and them scenario when it comes to LGBTIQ situations so the logical question has to be why create another us and them when it comes to child birth? Attard asked.

We have to realise that by choosing who is fit and who is not we are leading into the topic of eugenics. Creating a society which is removing certain conditions from existence is unethical, who are we to choose? Darmanin said.

The thing is, from a young age Attard remembers reading articles about how now scientists can determine what eye colour a child will have before being born. I am 100% sure that the world of science can already test for other disabilities which are not included in the Bill so where do we draw the line? And will morality play a part in the decision of stopping further tests?

It is hard to predict whether Malta will add to the list of genetic testing. What is for certain is that as time and technology progress, this form of testing will become cheaper and more accessible to everyone.

Another observation which both Attard and Darmanin agreed on is that the whole situation of disability is, in their opinion, being looked at from the wrong perspective. As is the case with everything, there is more than one way to look at the solution.

Rather than seeing disability as a burden and looking to remove it as much as possible, why not make it easier on parents who have children with certain conditions.

Darmanin said that yes, its not easy finding yourself in a situation where your child has a certain condition and the first thing many parents say when they find out their child has the said condition unfortunately is what will happen to my child once Im gone?

That is a truly sad realisation which parents have to go through unfortunately, so rather than removing the child who has any condition, why dont we make it easier for both parents and child to live a fruitful and meaningful life without anyone being a burden on anyone else.

We must not become a society where disability is a thing of the past; we must not become the new Hitler and create the perfect race, we have to see the logical and ethical solution to all this, Attard said.

Society in general does need to become more inclusive. Some time ago, while interviewing ex-MP Oliver Scicluna, who was still the commissioner for persons with disability at the time, he had said that although there are laws and regulations in place for buildings to become accessible for everyone, it is still seen as a nuisance to implement such regulations, rather than a necessity for a more inclusive society.

We sometimes cannot accept the fact that there are people with needs that are different to ours. Yes, the laws and regulations in place are aimed at making society more inclusive but do we honestly need these laws and regulations to think of our peers? Without them would we have a society which does not include these people in the grand design of things?

As the coffee was forgotten and our attendant started to clean up the table, Attard and Darmanin came to the same conclusion we have to draw a clear and definitive line on what is acceptable and what is not while steering far away from eugenics. We cannot create a society where disability is a term reserved for couples who choose to conceive naturally without the safeguard which is genetic testing.

Excerpt from:
Conversations with a friend on IVF genetic testing - Malta Independent Online

Genomics and DNA testing have been hailed as a window into our medical future that could help us live longer, healthier lives.

The first such consumer test available in Dubai, for Dh999, has been trialled to find out exactly what a spit sample can reveal, and what steps should be taken as a result.

Three weeks after a saliva sample was collected by Emirates Post from my home and processed at Dante Labs' $6 million laboratory in Dubai Silicon Oasis, I received a call from the company that my unique genetic profile was ready.

I was invited to meet Alexandra Fonzi, a genomic and molecular biotechnologist at Dante Labs, to discuss my test results.

A little apprehensive about what revelations may be revealed about how my life may end, I was also eager to understand more about my genetics and why my body reacts in certain ways to exercise and diet.

Genetic screening can answer questions such as how some people put on weight, yet others who eat similar foods do not, and why some healthy people get cancer while other sedentary cigarette smokers live well into old age.

My specific DNA report had a number of different colour codes to indicate analysis.

Green icons showed no area of concern, while yellow markers showed genes that could help in fitness and lifestyle.

The $6 million laboratory opened in January and has the capacity to analyse up to 1,000 samples a week. All photos: Pawan Singh / The National

An orange flag in my report identified a requirement for action, and a predisposition towards certain illnesses and diseases because of my specific genes.

A blood pressure alert was issued to suggest I was potentially at risk of a heart attack or stroke without changes to my diet, despite regularly exercising, because of the genes I carried.

You can reduce salt or do more outdoor activities like running to help reduce blood pressure, said Ms Fonzi, who provides a one-to-one genetic consultation once results are available.

This information can be passed on to a personal trainer and dietitian to help them develop a personalised plan based on this genetic information.

Isometric exercises were recommended as the test showed I had a genetically poor response to muscle building, but I was physiologically suited to high-intensity sports and endurance events.

Without dietary changes, you may experience problems later in life, with high blood pressure you can have issues when you fly for example, said Ms Fonzi.

If you notify a doctor, they can help with medication to reduce blood pressure.

Chief executive Andrea Riposati shows the sequencer machine at Dante Labs, Dubai Silicon Oasis. Pawan Singh / The National

The report is split into two areas, a fitness report showed what injuries I may be predisposed to in my case tennis elbow and lower back problems, as well as metabolism and genetic markers for disease.

A second report focused on nutrition and revealed what foods could trigger inflammation or digestive problems.

Glucose intolerance in metabolism is connected to diet, so there is a predisposition that should be addressed by altering your diet to avoid the chances of diabetes in the future, Ms Fonzi said.

If we have a high level of oxidative stress, as in your case, you can age earlier and your body will respond differently to someone who does not react to this kind of inflammatory process.

A Mediterranean-style diet, with whole grains, low-fat dairy products, more vegetables, fruits and fish oils was recommended as the test showed I had a slow lipid metabolism and glucose intolerance.

It meant without regular exercise, I was more likely to put on weight and potentially be at risk of diabetes, while impaired glucose tolerance is a common risk factor for ischaemic heart disease.

Some genetic traits revealed in the report can help you, with a good response to working out to help you achieve a high level in sport, but you also have a propensity to put on weight if you ceased to exercise, Ms Fonzi said.

I was also told I was more likely to develop certain injuries, such as shoulder injuries, muscle cramps and arthritis later in life, because of my specific genetic profile.

Cramps could be countered by taking drinks with added sodium and potassium, particularly in the heat, while maintaining a healthy weight could avoid stress on joints in older age, I was told.

Lab technicians working in the Dante Labs at Silicon Oasis in Dubai. Pawan Singh / The National

More of a worry was the presence of a specific gene that made me more predisposed to some cancers and cardiovascular disease.

As you have a high disposition to oxidative stress and carry the A allele gene, if you were a smoker you would be at greater risk of cancer and other cardiovascular disease, said Ms Fonzi.

The way your body absorbs HDL cholesterol and fats is also making you at risk of high cholesterol, which is also a hereditary condition in this case as you have an active life.

It is something that needs to be monitored with regular blood analysis.

This is a scientific test to you and will give you information as to how you can make your life better in the future by knowing what food you need to avoid, or what nutrition you need to take.

Genetic testing and profiling of patients to predict future care requirements will become a key component of the healthcare strategy in Abu Dhabi, and elsewhere in the GCC.

Thanks to the latest artificial intelligence, G42 Healthcare in Masdar City is one of the leaders in the region, in this kind of medical technology.

At the companys Biogenix Labs, diagnostic tests or biomarkers help assess high-risk patients and aid in the early detection of diseases, their prognosis, therapy selection, response to treatment, and chances of recurrence.

Thousands of genome sequencing procedures carried out weekly can unlock the possibilities for preventive and precision therapies to transform the UAE healthcare landscape, enabling it to transition from 'sick care' to health care.

G42 Healthcare aims to use the technology to provide insights and facilitate early diagnosis and treatment of cancer, rare and metabolic diseases and other genetic conditions.

As part of our efforts to support the health of future generations and provide better healthcare every day, Biogenix Labs is expanding its clinical genetics offering in the region and reinforcing its reputation as the regional testing provider of choice, said Dr Fahed Al Marzooqi, chief operating officer of G42 Healthcare.

We will soon be expanding this offering to the Kingdom of Saudi Arabia and the wider GCC region as well.

Updated: August 14, 2022, 4:54 AM

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How a simple home DNA test unravelled the genetic code that could help prolong my life - The National

Genetic diseases are a common occurrence that happens when, "A mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material, the Cleveland Clinic states and according to the Centers for Disease Control and Prevention, "Thousands of inherited genetic disorders affect millions of people in the United States." There's two main types of genetic disorders: single-gene and chromosomal and the Cleveland Clinic explains, "You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time." Eat This, Not That! Heath spoke with Dr. Tomi Mitchell, a Board-Certified Family Physician with Holistic Wellness Strategies who shares why knowing your genetic makeup is important and five disorders that can be passed down. Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

Dr. Mitchell states, "Knowledge is power, and when choosing a partner for life, it is essential to be as informed as possible. After all, you want your future children to inherit the best likely traits from both parents. While beauty and wealth may be necessary to some, it is also essential to consider other factors, such as intelligence and family history. Studies have shown that genetic factors largely determine intelligence, so it may be worth investigating their family tree if you are looking for a smart partner. Similarly, certain medical conditions can also be passed down through the generations, so if you have a history of cardiovascular disease or mental illness in your family, you may want to choose a partner who does not share that same history. Of course, ultimately, the decision is up to you, but it is always helpful to be as informed as possible before making such an important decision. Here are five of the many genetic conditions that can be passed down."

Dr. Mitchell explains, "Cystic fibrosis (CF) is a progressive genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, a defective gene causes the body to produce unusually thick and sticky mucus that builds up in the lungs and clogs the airways. The thick mucus traps bacteria and leads to chronic inflammation, persistent lung infections, and progressive damage to the lungs. In addition, the sticky mucus also affects the pancreas and other organs in the body, preventing them from working properly. As a result, people with CF often experience abdominal pain, poor growth, and malnutrition.

The disease is caused by a mutation in the cystic fibrosis gene, and children need to inherit one copy of the mutated gene from each parent to develop the disease. If children inherit only one copy of the mutated gene, they will not develop cystic fibrosis, but they will be carriers of the disease and could pass the gene to their own children. Cystic fibrosis is most common in North Europeans, and family history is the biggest risk factor for the disease. There is no cure for cystic fibrosis, but treatments are available to help improve quality of life and extend life expectancy.

Fortunately, since 2010, it has been mandatory that all 50 states offer cystic fibrosis screening in the newborn stage, for which Connecticut and Texas were the last states to mandate the screening."

"Sickle cell anemia is anemia in which there are not enough healthy red blood cells to carry oxygen throughout the body," Dr. Mitchell says. "This can cause various symptoms, including fatigue, shortness of breath, and pain. The condition is most common among people of African descent, but it can also affect people from other groups, including Hispanics, Arabs, Greeks, Italians, and Turks. Sickle cell anemia is caused by a mutation in the hemoglobin gene. When someone with this mutation has a child with someone who does not have the mutation, there is a 25% chance that the child will have sickle cell anemia. There is no cure for sickle cell anemia, but treatments are available to manage the symptoms. It is essential to be aware of sickle cell anemia if you have it in your family history or if you are considering having children with someone who has it in their family history. The condition can be passed onto future generations, so it is essential to be informed about the risks involved.6254a4d1642c605c54bf1cab17d50f1e

Sickle cell is so prevalent in certain countries worldwide that couples are required to get tested for sickle cell before getting married."

Dr. Mitchell tells us, "Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). Huntington's disease is also known as Huntington's chorea. It is passed down from parents to children through a mutation in a single gene. The disease usually begins in middle age but can appear earlier or much later in life. Huntington's disease is fatal, and currently, there is no cure. Treatment focuses on relieving symptoms and improving quality of life.

Huntington's disease affects people differently, so symptoms can range from mild to severe. They often develop slowly over time and get worse as the disease progresses. Early symptoms may include irritability, mood swings, depression, anxiety, and insomnia. As the disease progresses, patients may experience involuntary movements (chorea), problems with speech and swallowing, impaired reasoning and judgment, and dementia. Ultimately, Huntington's disease can lead to complete physical and mental disability.

Huntington's disease is caused by a mutation in the HTT gene. This gene provides instructions for making a protein called huntingtin. In people with Huntington's disease, the HTT gene contains a repeating sequence of Genetic codes (CAG). Repeats in this sequence abnormally increased in size. As a result, it produces an altered form of the huntingtin protein. This defective protein accumulates in brain nerve cells, interfering with normal nerve function and leading to cell death. The death of these cells leads to the physical and mental deterioration seen in Huntington's disease.

A diagnosis of Huntington's disease is usually made based on the results of a physical examination and neurological assessment, along with family history and genetic testing. No one test can definitively diagnose Huntington's disease. However, genetic testing can confirm the diagnosis if the person has a family history of the disorder or if they are at risk of inheriting the mutated gene.

There is no cure for Huntington's disease, but treatments are available to help manage symptoms and improve quality of life. Medications can help involuntary control movements (chorea), relieve depression and anxiety, and improve sleep problems. Physical, occupational, and speech therapy can help patients maintain their abilities and independence for as long as possible.

This condition can be debilitating, and due to the dominant nature of inheritance, you only need to inherit one abnormal gene from your parents to have this condition."

According to Dr. Mitchell, "Marfan syndrome is a genetic condition that affects connective tissue. Connective tissue supports the body and organs and helps hold them in place. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. This can lead to various complications, including heart disease, bone deformities such as a curved spine, eye conditions such as cataracts or glaucoma, and lung or skin problems. Some of these complications can be treated or prevented with medication or surgery. People with Marfan syndrome also need to be monitored closely by a doctor to detect any problems early. With proper treatment and monitoring, people with Marfan syndrome can live long and healthy lives.

Most people with Marfan syndrome inherit the defective gene from a parent with the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25% of cases, neither parent has the disorder, and a new mutation develops spontaneously."

"A small percentage of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child," Dr. Mitchell explains. "In most cases, the abnormal gene is passed down from the mother. These abnormal genes can cause a woman to risk developing breast cancer at an early age. Two different types of abnormal genes can be passed down: BRCA1 and BRCA2. Women with either of these genes have about a 60% chance of developing breast cancer at some point in their lives. The risk is even higher for women who have both genes. There are several things that women with these genes can do to lower their risk of developing breast cancer, including having regular mammograms, staying physically active, and avoiding alcohol.

If you have a family history of breast cancer, it might be important to know if you carry the BRCA1 and BRCA2 genes."

Dr. Mitchell says this "doesn't constitute medical advice and by no means are these answers meant to be comprehensive. Rather, it's to encourage discussions about health choices."

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5 Health Issues That are Genetically Passed Down. Do You Have One? Eat This Not That - Eat This, Not That

Ethan Hawke and Uma Thurman in a still from Gattaca. Photo courtesy: Sony Picture

Like many others, the first time I watched Gattaca was in school. It was seventh grade, and we were in the middle of our genetics unit. The film, which was released in 1997 and marked the beginning of Ethan Hawke and Uma Thurmans ill-fated relationship, is set in a world in which genetic selection ensures children have the best traits and life possible.It follows Vincent Freeman (played by Hawke), an in-valid who was conceived naturally and at high risk for developing a heart defect. Unable to get hired for anything beyond menial cleaning jobs, he decides to disguise himself as a Valid, using DNA samples from a former swimming star in order to secure a job at Gattaca Aerospace Corp. My teacher hoped to use the film to show us the potential ethical quandaries with genoism discrimination based on genetics and eugenics (and maybe give herself a bit of a break for a few classes).

This October marks the 25th anniversary of the films release. Ever since, the word Gattaca made up of the letters that stand for the four nitrogenous bases that make up our genes has essentially become shorthand for a dystopian future enabled by genetic engineering. We talk about Brave New World, we talk about 1984, we talk about Frankenstein, we talk about Gattaca, Josephine Johnston, an expert on the ethical, legal, and policy implications of biomedical technologies at the Hastings Center, said. Its one of those kinds of cultural representation of a certain seat of concerns.

The film was released about a year after the first mammal, Dolly the sheep, was cloned, so it was really tapping into popular conversation about ethics and genetic technology. At a time when we read about cloned sheep and tomatoes crossed with fish [a reference to genetically modified foods], the science in Gattacais theoretically possible, film critic Roger Ebert wrote in a review right after the film came out.

And ever since, people have been invoking the name as a warning: Gattaca stands for a future in which genetic technology has created a society where scientists determine your genes, and your genes determine who you are. The only protection society has from a slippery slope that basically leads to a Gattaca-type environmentdesigner babies, a master raceis public awareness, public scrutiny, says a doctor during a CNN broadcast in 2000 about designer babies that is, babies genetically designed to have certain traits.

In 2008, Congress passed the Genetic Information Nondiscrimination Act (GINA), which prevents employers and health insurance companies from using genetic information against individuals. Although GINA was first proposed a few years prior to Gattacas release, the film was used to talk about it. No Gattaca Here: Genetic Anti-Discrimination Law Goes Into Effect reads the headline of a 2009 Discover magazine article on the law.

In particular, Gattaca seems to be invoked whenever people talk about technologies like the gene-editing tool CRISPR-Cas-9 or procedures such as pre-implantation genetic testing, which allows doctors to scan embryos for certain traits just like they did in Gattaca. (Using CRISPR-Cas-9 to edit human germline cells such as embryos is banned in the United States, but PGT is used in conjunction with in vitro fertilization in fertility clinics.)

In 2013, a Scientific American article really drew out the comparison when discussing the advancement and ethical implications of using pre-implantation genetic testing, asking Are We Too Close to Making Gattaca a Reality?

And after a scientist used CRISPR to create the first genetically edited babies in 2018, Ed Yong wrote in the Atlantic, Even without any speculation aboutdesigner babiesandGattaca-like futures that may or may not come to pass, the details about what has already transpired are galling enough. (The scientist was widely criticised and sentenced to three years in prison.)

Those are just a few of the countless examples of articles about the ethics of genetic editing invoking Gattaca. In fact, the editor of Future Tense says she is constantly taking references to the film out of pieces because they get a little tired.

Given the seemingly strong connection between the film and modern genetic technologies, I was curious do people who work with these tools and concepts on a daily basis get tired of Gattaca, too? I decided to reach out and see how often the film comes up in their day-to-day and whether they think its been a net good to society or just a way to create a moral panic.

Deanna Darnes is a genetic counsellor in Dallas, where she talks to patients about birth defects, chromosome abnormalities, and single gene disorders and helps them find genetic testing options. Shes found that the movie left some patients if they are more my age or older, she says confused about how genetics work, and what technology can do for fetuses with genetic diseases. Darnes especially noted that some people walked away from the movie with an oversimplified view of genetics as one gene codes for one trait.

Were glad patients know what genetics actually are, but it anchors them to think certain things are permanent when theyre not, she said. People dont understand that genes are a big circuit. They work in concert, its not a light switch. We need to move away from the pea plants and doing the rudimentary Punnett squares of its either this or that because its not. Its a spectrum.

Experts in other areas of genetics also noted that because the film is coming on 25 years old, Gattaca jokes fall flat.

I think I think about it more than my patients do because when they ask what were testing for in the embryos, I on occasion say Its not like Gattaca, we cant test for traits. When we screen embryos broadly, were screening for chromosomes, Paula Brady, a reproductive endocrinologist at Columbia University, said. I think the movies old enough that its not a frame of reference.

Brady also pointed out how the movie exists on the premise that genetics are fate and fails to account for the idea that the manifestation of certain genes can vary significantly from person to person.

It assumes predisposition is inevitability, and we know thats not true, she explained. And some of her patients, who rely on donor eggs and/or sperm struggle with not having control over the reproduction process. She tells them that the way genomes come together and make embryos and individuals is a slot machine. Its not something we have such control over.

Brady also noted how the film fails to address other factors that can influence a childs development. Watching the movie now, it was sad to me the degree to which it peripheralised parents and nurture, which we know is not true.

But geneticist Jonathan Pettitt seems to think the film does hint at the idea that genetics are not the end-all be-all.

In Gattaca, the seductive certainty offered by genetic determinism ends up being cleverly undermined when Vincent (Ethan Hawke), one of the few people born outside the pre-selection process, proves more than a match for his genetically perfect peers, he writes in a 2016 article in the Conversation. The films ultimate message is that DNA is not destiny which is precisely what science is now increasingly backing up. This being the case, allowing ourselves to be misled by science fiction is both an unfortunate and strange state of affairs.

Some people who work directly with Gattaca-like technology dont hear about the film as often as one might think. Megan Hochstrasser, who is currently a lead editor at Arcadia Science, got her PhD working on natural CRISPR systems at University of California, Berkeley. Hochstrasser was part of the lab when CRISPR-Cas-9 really took off as a genetic engineering tool. It wasnt until the gene editing component emerged that it became salient as to how her work was related to Gattaca.

Because my work was so basic and it wasnt like I was doing gene editing in the early days, I didnt really think about Gattaca as something that applied to my life or my own research for a while, she explained. As people started bringing it up all the time, its become this ubiquitous reference, I started thinking about it more. She noted that at some point a bunch of lab members got together to jog their memory (and some watched it for the first time).

I dont think its as hot of a reference for general audiences, Hochstrasser added. It seems like something the scientific community likes to reference a lot and definitely a lot of laypeople do know it, but I think they know it and care about it a lot less than we think they do.

Cliche and misconceptions aside, all the experts I spoke to see it as a decent representation of concerns people had about reproductive genetics and eugenics.

At first I was like, A lot of people reference it, I shouldnt, its kind of overdone, but then I realised its actually ridiculously relevant so Im definitely going to reference it, Johnston said. I have often felt like films and books do a better job than academic bioethicists of bringing alive some of those other concerns and arguments about who we are as humans, who we are as parents, what it means to unconditionally love, and what is healthy, and what is good.

And above all, its a good springboard for conversations about the ethics of genetic research.

I think its a nice shorthand for dystopian futures and a way for people to imagine them, and a kickoff point for thinking about things in a more deep way, Hochstrasser said. Sometimes people are limited in their imagination and when youre trying to have these discussions on the societal implications of science and how we all need to collectively care about these things in order to make the future something we want, it can be useful to have a reference point like that.

This piece was originally publishedonFutureTense, a partnership betweenSlatemagazine, Arizona State University, and New America.

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25 Years After 'Gattaca' Released, What Do Genetic Scientists Think About It? The Wire Science - The Wire Science

The first time I was at City of Hope was as a baby, when my mom took me to her doctor appointments. I was 7 years old when she died. It was a tragedy for our family because my grandma lost both her daughters; my mom died at age 35, and my aunt died at 21. After my mom passed away, my father, Michael Meyer, raised money to help fund research in the clinical cancer genetics department because he was so impressed by her care. The Construction Industries Alliance for City of Hope named him a Spirit of Lifehonoree in 1997. So, City of Hope has been part of my family for a long time.

About 24 years ago, I was a new mom with a baby of my own, living in Colorado, when City of Hope came back into my life.

They told me there was genetic testing available for the type of cancer my mother had, partly due to my fathers fundraising efforts, and said theyd like me to take the test. At the time, I was one of the first people to be tested, which says to me that City of Hope isnt just advanced in its cancer care, but that its the premier institution for cancer.

I came out to California, and everyone at City of Hope was so focused and committed. They had so much compassion. They cared about fighting cancer like their own lives depended on it.

I tested positive for a BRCA-1 gene mutation, which is associated with an increased risk of breast and ovarian cancer. My doctors gave me my options and enrolled me in a clinical trial for a year. After the trial ended, they recommended I get a preventive double mastectomy and hysterectomy. It wasnt a hard decision for me; I wanted to see my son grow up. After losing my mom when I was 7, Id been fearful that the same thing would happen to me and I wouldnt be alive to be with my son. I knew City of Hope was taking care of me, and that helped me manage my fear and improve my quality of life.

At the time, a preventive double mastectomy and hysterectomy were practically unheard of. It was considered drastic. When my insurance company wouldnt cover my mastectomy reconstruction because it was deemed elective and cosmetic, my City of Hope doctors went to bat for me. They went to court and fought for me. And we won. This landmark case was one of the first of its kind and changed the law of preventive procedures in a way that would help many cancer patients going forward. I take zero credit. I was simply fortunate enough to be a patient in the care of a brilliant City of Hope team.

From fear to hope

Meyer Reimers moved forward in life, living her dream of watching her son, Brigg, grow up. Then, in April 2021, she went to the ER with intense nausea and pain. The doctor there diagnosed her with primary peritoneal cancer.

As soon as I knew I had cancer, I was back at City of Hope. There wasnt a question; theres no other institution I would go to. I want to shout it from the rooftops: If your loved one has cancer, you have to go to City of Hope.

I went to City of Hope in Duarte for surgery. I was staying with family in Laguna Beach, and my surgeon told me there was a City of Hope location nearby in Newport Beach where I could go for chemotherapy. Im in remission now, but I still go to City of Hope| Newport Beach Fashion Island every week for blood work and scans to make sure the cancer is not coming back.

My physician there is Tingting Tan, M.D., Ph.D. The care Ive received from Dr. Tan and everyone on my team is exemplary. Im moved not only by their skills and abilities, but also how hard they worked to keep me comfortable.

At one point, I was in the infusion chair for seven hours every week. My chemo nurse, Linda, could finish my sentences. Everyone there is so kind, and Dr. Tan would personally call me if I ever needed anything. I felt so supported, not only because they were helping me feel well and keeping me alive, but because they had so much compassion. I felt cared for physically and emotionally.

Meyer Reimers has moved from Colorado to Laguna Niguel to be close to City of Hope for her cancer care. Shes happy that Orange County residents will have the same world-class care she has received, close to home.

As the population grows here in Orange County, there are going to be more and more people who are diagnosed with cancer. And theres going to be more and more people like me who live because City of Hope Orange County is here for us.

City of Hope has always been by my side. They have saved my life. I've been to many medical centers and seen many doctors, and I've never experienced anything like the expertise and compassion at City of Hope.

Visit CityofHope.org/OC to learn more. To make an appointment, call 888-333-HOPE (4673).

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A lasting inheritance: City of Hope replaced my family's fear with hope - City of Hope

NEW YORK, Aug. 17, 2022 /PRNewswire/ --As per Zion Market Research study, The global esoteric testing market size was worth USD 20,163.10 million in 2021 and is estimated to grow to USD 37917.67 million by 2028, with a compound annual growth rate (CAGR) of approximately 11.10 percent over the forecast period.

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Esoteric Testing Market: Overview

Esoteric testing involves the scientific examination of uncommon molecules and substances that are not often done in a clinical laboratory. These tests are carried out when a doctor needs more comprehensive information regarding the patient's condition. However, as laboratory testing technology develops, tests that are currently thought to be esoteric may end up being common in a short period of time. These tests are recommended by doctors when they require more detailed information than routine lab testing to finish a diagnosis, determine a prognosis, or select and track a treatment plan. Esoteric testing frequently requires the use of specialized tools and materials, as well as skilled personnel to conduct the test and analyze the results. These tests are typically more expensive and ordered less frequently than standard tests. Esoteric tests include those in endocrinology, genealogy, immunology, microbiological, molecular diagnostics, cancer, serology, and toxicity.

The rising esoteric testing market value for innovatively reasonable tests has resulted in significant initiatives in R&D, which will strengthen market development potential in the future. Planned and improved novel diagnostic techniques with diverse benefits for a wide range of intriguing infections will drive global market demand. The key factor influencing the growth of the global esoteric testing market is insufficient payback. Medicaid and Medicare coverage of proper medicine and tailored medication is extremely limited.

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Key Industry Insights & Findings of the Esoteric Testing Market Reports:

As per the analysis shared by our research analyst, the Esoteric Testing Market is expected to grow annually at a CAGR of around 11.10 % (2022-2028).

Through the primary research, it was established that the Esoteric Testing Market was valued at approximately USD 20163.1 million in 2021 and is projected to reach roughly USD 37917.67 million by 2028.

New advances in widespread proteomics, as well as stronger collaboration between researchers and physicians, contribute to understanding and detecting complicated illness characteristics.

Rapid growth for genomics and proteomics, as well as greater investment in the identification of innovative solutions to detect rare biomolecules, will drive overall market growth. Advancement of novel test methods with significant advantages for a variety of chronic illnesses will drive global esoteric testing market demand.

Targeted therapy and personalized medicine are only covered in a few areas under Medicare. Diagnostic test reimbursement has fallen in recent years, reducing the volume of tests performed.

The global esoteric testing market is expected to be driven by several developing technologies and integrated innovations such as genetic studies, digital PCR, next-generation sequencing & Pyrosequencing, microfluidic platforms, and enhanced molecular phenotyping technologies.

North America will continue to dominate the global esoteric testing market during the forecast period due to an increase in chronic illness, an expansion in government diagnostic activities, and an overall increase in community awareness of self-diagnosis.

The increasing prevalence of chronic diseases and an expanded focus on early detection and treatment of unusual infections will also drive the regional market growth.

Zion Market Research published the latest report titled 'Esoteric Testing Market By Type (Infectious Disease Testing, Endocrinology Testing, Oncology Testing), Technology (Enzyme-Linked Immunosorbent Assay, Chemiluminescence Immunoassay, Mass-Spectrometry, Real-Time Polymerase Chain Reaction, DNA Sequencing, Flow Cytometry, and Other Technologies), By End-Use (Hospital-based Laboratories and Independent & Reference Laboratories), and By Region - Global and Regional Industry Overview, Market Intelligence, Comprehensive Analysis, Historical Data, and Forecasts 2022 2028.'into their research database.

Industry Dynamics:

Esoteric Testing Market: Growth Drivers

Proteomics testing on a broad scale is fundamental to clinical translation and biological research. New advances in widespread proteomics, as well as stronger collaboration between researchers and physicians, contribute to understanding and detecting complicated illness characteristics. Rapid growth for genomics and proteomics, as well as greater investment in the identification of innovative solutions to detect rare biomolecules, will drive overall market growth. Advancement of novel test methods with significant advantages for a variety of chronic illnesses will drive global esoteric testing market demand

Esoteric Testing Market: Restraints

Limited reimbursements will hinder the expansion of the esoteric testing sector during the forecast period. Targeted therapy and personalized medicine are only covered in a few areas under Medicare. Diagnostic test reimbursement has fallen in recent years, reducing the volume of tests performed.

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Global Esoteric Testing Market: Opportunities

The global esoteric testing market is expected to be driven by several developing technologies and integrated innovations such as genetic studies, digital PCR, next-generation sequencing & Pyrosequencing, microfluidic platforms, and enhanced molecular phenotyping technologies. The increased usage of information technology has enabled faster and more effective data transfer. Industry participants in the esoteric testing market should take advantage of the prospects provided by growing economies such as China and India, which is predicted to determine the market's speedy growth over the forecast period.

Global Esoteric Testing Market: Segmentation

The global esoteric testing market is segregated based on technology, type, end-user, and region.

By type, the market is divided into infectious disease testing, oncology testing, endocrinology testing, genetic testing, toxicology testing, immunology testing, neurology testing, and other testing. Among these, the infectious disease testing segment dominated the market in 2021. The increased incidences of infectious diseases, combined with rising demand for specialty testing, will drive up overall sector test volumes. Furthermore, the increasing efficacy of esoteric testing in the identification of immunological illnesses is a significant component driving the segment's rapid rise.

By technology, the market is classified into enzyme-linked immunosorbent assay, chemiluminescence immunoassay, mass-spectrometry, real-time polymerase chain reaction, DNA sequencing, flow cytometry, and other technologies. Over the forecast period, chemiluminescence is expected to develop at the fastest rate. The rapid expansion in the use of chemiluminescence in esoteric testing due to its capacity to identify chemicals in small production test samples is driving the market growth.

By end-users, the market is segmented into hospital-based laboratories and independent & reference laboratories. The independent & reference laboratories held a significant share in the market in 2021. Growth is being fueled by the ongoing automation technology of diagnostic laboratories, the rise in accredited laboratories, broad reimbursement acceptance, and attractive benefits provided by these providers. The segment is expanding because of continuous diagnostic laboratory automation & digitization, an increase in accredited laboratories, extensive financing support, and aggressive incentives provided by these providers.

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List of Key Players in Esoteric Testing Market:

LabCorp

Quest Diagnostics

OPKO Health

H.U. Group Holdings Inc.

Helios Limited

Sonic Healthcare

Mayo Foundation for Medical Education and Research (MFMER US)

Eurofins Scientific

Stanford Clinical Pathology

Foundation Medicine

Kind star Global Technology Inc.

ARUP Laboratories

Georgia Esoteric & Molecular Laboratory LLC

Thorofare Technologies Ltd.

ACM Global Laboratories

Biaxiality Labs

National Medical Services Inc. (NMS)

Baylor Esoteric and Molecular Laboratory

Cerda Expert

Health Quest Esoteric

BUHLMANN Diagnostics Corp (BDC US)

BP Diagnostic Centre SDN BHD

Flow Health

Leo Labs Inc.

Key questions answered in this report:

What are the growth rate forecast and market size for Esoteric Testing Market?

What are the key driving factors propelling the Esoteric Testing Market forward?

What are the most important companies in the Esoteric Testing Market Industry?

What segments does the Esoteric Testing Market cover?

How can I receive a free copy of the Esoteric Testing Market sample report and company profiles?

Report Scope:

Report Attribute

Details

Market size value in 2021

USD 20163.1 Million

Revenue forecast in 2028

USD 37917.67 Million

Growth Rate

CAGR of almost 11.10 % 2022-2028

Base Year

2020

Historic Years

2016 2021

Forecast Years

2022 2028

Segments Covered

By Product Type, By Application, And By End Use

Forecast Units

Value (USD Billion), and Volume (Units)

Quantitative Units

Revenue in USD million/billion and CAGR from 2022 to 2028

Regions Covered

North America, Europe, Asia Pacific, Latin America, and Middle East & Africa, and Rest of World

Countries Covered

U.S., Canada, Mexico, U.K., Germany, France, Italy, Spain, China, India, Japan, South Korea, Brazil, Argentina, GCC Countries, and South Africa, among others

Companies Covered

LabCorp , Quest Diagnostics , and OPKO Health . H.U. Group Holdings, Inc. , Helios Limited , Sonic Healthcare , Mayo Foundation for Medical Education and Research (MFMER, US), Eurofins Scientific, Stanford Clinical Pathology , Foundation Medicine , Kind star Global Technology, Inc. , ARUP Laboratories , Georgia Esoteric & Molecular Laboratory, LLC , Thorofare Technologies Ltd. , ACM Global Laboratories, Biaxiality Labs , National Medical Services Inc. (NMS) , Baylor Esoteric and Molecular Laboratory , Cerda Expert , Health Quest Esoteric , BUHLMANN Diagnostics Corp (BDC, US), BP Diagnostic Centre SDN BHD , Flow Health , and Leo Labs, Inc. .

Report Coverage

Market growth drivers, restraints, opportunities, Porter's five forces analysis, PEST analysis, value chain analysis, regulatory landscape, market attractiveness analysis by segments and region, company market share analysis, and COVID-19 impact analysis.

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Statistics on Global Esoteric Testing Market Size & Share to Surpass USD 37917.67 Million by 2028, Exhibit a CAGR of 11.10% | Industry Trends,...

Test tube with DNA molecule on abstract background

Genetic testing once was offered only to people with rare genetic conditions, or strong family histories of disease that spanned generations. But genetic testing is now being offered to healthy people, to detect if they carry a genetic change (often referred to as a variant or mutation) that may place them at high risk to develop preventable conditions, including some cancers and cardiac conditions.

In theory, population genetic testing makes sense. Instead of waiting for a person to die of a heart attack at a young age, we can learn of some of those risks ahead of time and mitigate them. This approach works not only for the person having testing and their family members who may also be at risk but also for our medical system, employers, and overarching health care costs that we, as a society, want to minimize.

But in practice, are we there yet? Cristis story illustrates that we still have a long way to go to make population genetic testing a win for the patient and their family members. Cristi is a certified genetic counselor who, like many of us, knew that several members of her family had developed cancer. But the cancers in Cristis family did not fit into a known hereditary cancer syndrome. Cristis mom had genetic testing based on her personal history of a brain tumor and melanoma, and family history of breast and prostate cancer, and no mutations were found in her DNA. So when Cristi signed up for genetic testing to check the customer experience of a population-based screening program offered by her company, she was surprised to learn that she carried a pathogenic variant in a gene called RET.

People who carry a RET variant have a syndrome called Multiple Endocrine Neoplasia 2A (MEN2A) and are considered to have an almost 100% chance of developing an aggressive type of thyroid cancer called medullary thyroid cancer. For this reason, people with MEN2A have traditionally been counseled to remove their thyroid gland preventively, often in childhood, before they develop cancer. MEN2A is also associated with a high risk of developing pheochromocytomas (tumors on the adrenal glands) and tumors of the parathyroid glands. Recommendations for people with MEN2A include specialized screening for these tumors each year, consisting of blood work and ultrasound imaging.

At first, Cristis healthcare team thought her genetic results must be a mistake. This genetic finding was not consistent with her personal or family history. So, Cristi repeated the testing and confirmed that she definitely carried a RET variant. Another family member subsequently tested positive for the same variant.

Cristis healthcare team told her that she had up to a 95% chance to develop cancer. But because Cristi is a genetic counselor and has worked for several commercial laboratories, she dug deeper. Given her family history, which was not consistent with a traditional RET mutation, the results did not make sense to her. Cristi found a published paper in a medical journal showing that her specific RET variant is likely associated with a much lower risk of these cancers. Through her professional network, she obtained data from multiple laboratories on families with the same RET variant that appeared consistent with this journal article, and she scheduled an appointment with the articles author. She even had a local genetic counselor and patient advocate attend her appointments virtually with the author to ensure that her local healthcare team would have the same information. Cristi was advised by the papers author that, in her case, screening for thyroid cancer would be a reasonable approach. Cristi decided to opt for regular blood screening and ultrasounds instead of surgical removal of her thyroid gland, which is the protocol for traditional RET variants. Cristi realized she was unique because most people with her initial testing result would not have access to these extraordinary resources and would have likely proceeded with removal of their thyroid gland, the approach her healthcare team and peers were recommending adamantly.

Financial toxicity.

On its face, Cristis story seemed to be a success, although one driven by education, experience, and network. At first, she was understandably relieved. The treatment plan was non-invasive, reasonable, and data driven. Soon, however, Cristi learned that the plan was also financially toxic. We have published two previous papers discussing financial toxicity, including one in the setting of a breast cancer diagnosis.

Cristi had to wait 3 months for an appointment to see a specialist to have her screenings. Overall, the medical costs associated with establishing a screening plan that year and the associated health insurance deductibles cost her over $3,000. The average out-of-pocket costs in subsequent years for her RET specific screening are estimated to be at least $1,700/year, for the rest of her life - and that assumes additional testing is not necessary. If we include the costs she must pay for her at-risk breast cancer screenings, based on her family history, the total out-of-pocket comes to $3,200 a year. It is not surprising that many patients skip healthcare visits they need due to uncertainty around costs.

Ironically, the removal of Cristis thyroid gland which was not necessarily warranted based on her genetic variant, would be covered by her health insurance, as would the lifetime medications needed post-removal, and time off for recovery. The facts beg the question: are patients being pushed to have organ and tissue removal, instead of surveillance, due to the costs of lifetime surveillance? We must answer this critical question before we can move forward with population genetic testing and precision medicine.

Now consider that Cristis children and other relatives are offered genetic testing based on her finding and, if positive, must also have undergo similar surveillance every year. If Cristi and/or her family members receive an abnormal, or even borderline testing result, they require more testing and imaging. These procedures may or may not be covered by their insurance given the lack of guidelines for mutations that do not confer the traditional risk.

Another issue to consider is that Cristi must use paid time off (PTO) for her, and her family members, medical appointments. If we consider 10 days to be the average number of PTO for private sector employees who complete one year of service, this means that between her RET visits, routine visits, dental and vision, Cristi will use 9.5 PTO days per year for preventative care. If we consider the average persons PTO, that equals 9.5 out of 10 days off/year on medical appointments alone. This figure does not include routine appointments needed for her children, such as when they are sick, and of course it does not account for vacation time. This reality is the unfair price one person pays for doing what she can, and should, do to keep herself and her family healthy and cancer free.

Population testing may help people avoid serious diseases and death, which is a worthy goal for patients, employers, payers and our population at large. But if we support this testing, we must also support individuals who test positive for a pathogenic mutation by providing:

accurate genetic counseling information from a specialist, tailored to that individual test result;

updated information as we learn more about each genetic variant and recommended management;

full coverage of both surveillance and prophylactic surgeries appropriate to that genetic finding;

employer flexibility to support the PTO associated with the medical management pathways;

clinics that support both high risk appointments and routine screening simultaneously, so that patients avoid multiple appointments at different sites spanning numerous days.

Population genetic testing is coming and will save lives and money, for our health care system and employers. But Cristis story is a cautionary tale: before we establish population testing programs, it is essential that we carve pathways for participants, to ensure that they are both covered and supported by their insurers, clinicians, and employers throughout this lifetime journey.

***Co-author Cristi Radford, MS, CGC is a genetic counselor who shifted her career to the payer space to develop programs addressing the unique needs of patients with genetic conditions. She is one of few professionals nationwide with expertise in genetic counseling and testing, the payer space, and financial toxicity.

See the article here:
Population Genetic Testing: Save Lives And Money, While Avoiding Financial Toxicity - Forbes