Archive for the ‘Genetic Testing’ Category

A wolf pack in Moffat County has upended one of Colorados most controversial wildlife management debates, prompting voters, legislators and wildlife officials to wonder what course to chart on wolf reintroduction and management.

In mid-February, Colorado Parks and Wildlife confirmed through DNA tests on scat samples taken from Moffat County that a pack of at least four wolves was present in Colorado. The four were siblings, three females and one male.

This is the first time weve documented a group of wolves, a pack of wolves in the state since they were extirpated in the early 1940s, said Eric Odell, wildlife species conservation program manager.

These wolves were confirmed by Parks and Wildlife less than a month after a Colorado petition was certified giving voters the chance to weigh in on wolf reintroduction.

The pack coming into the state was a real reset in the conversation because, of course, before that the wolf reintroduction conversation was centered around the proposed ballot initiative, which has now gained signatures, said Colorado State Sen. Kerry Donovan, who is working on the issue in the Legislature. With the pack coming into the state, and with both sexes represented within the pack, we now have a management issue as well that the state isnt perhaps entirely prepared for.

Representatives of the Colorado Stop the Wolf Coalition have said the presence of this pack and its three females that could reproduce will make reintroduction unnecessary. But wildlife biologists say the presence of Craigs newest neighbors doesnt mean a re-established wolf population in Colorado is a done deal.

Another two wolves were observed by Parks and Wildlife staff, but genetic testing on those two has not been confirmed. More scat has been tested, but the full results have not been released. The genetics of those two animals are critical in understanding whether this pack is the start of a full wolf recovery in Colorado or an anomaly.

Its built into their social system to avoid mating with relatives, so they would not form a mated pair, University of Colorado-Denver Professor Diana Tomback said of the sibling wolves. The perpetuation of this pack is going to depend on what the genetic relationship is of the other two members.

Tomback, a conservation biologist who served on the science committee of the Rocky Mountain Wolf Project, said there are still too many unknowns to determine the future of these wolves. However, having a breeding pack in Colorado may not be enough for the species to recover, she said, without more wolves to provide genetic diversity.

If you actually go by the guidelines used by U.S. Fish and Wildlife to determine whether a population is recovered, it has to populate enough range and be there with enough population size to be able to withstand disturbances and challenges that are natural to their environment, Tomback said. From the perspective of genetic diversity, this one pack is inadequate.

Other wolves make the trek from the northern Rocky Mountains to Colorado, Odell said. Between 2004 and 2019, six gray wolves were photographed or killed in Colorado. More would have to make that journey and find this pack for the population to expand.

One pack is a start to establishing a population, but it does not meet the (U.S. Fish and Wildlife Service) definition of a wolf population two or more packs successfully reproducing for two or more years, Odell said. Genetic diversity is important, and only one pack does not provide that needed diversity.

Wolves have spread this way in the past. Gray wolves were reintroduced to Yellowstone National Park and Idaho in the mid-1990s and expanded their populations in Idaho, Wyoming and Montana. Today, more than 2,000 wolves are estimated in those three states.

In the early 2000s wolves started to pop up in Oregon, which sits across the Snake River from Idaho, said Michelle Dennehy, communications coordinator for the Oregon Department of Fish and Wildlife. One was killed crossing a road. Another was found shot. All were lone wolves, known as dispersers, that had left packs to search for mates.

In 2008, a wolf from Idaho crossed the Snake River and gave birth, starting the first pack in the state.

In 2009, Oregon confirmed a second pack, she said. By 2010, both packs were giving birth to pups.

We didnt do any translocation, Dennehy said. Everything is here naturally or reproduced naturally and weve gone from, if you just look at the numbers, from 10 in 2009 to 137 at the end of 2019.

Oregon and Colorado are not a one-to-one comparison when it comes to wolf migration though, Tomback said. The major obstacle between Idahos estimated 1,000 wolves and northeast Oregon is the Snake River. While it is a difficult river to cross, many wolves have done it. According to the latest Oregon Wolf Management Plan, Radio-collar data shows that dispersing wolves immigrate to and emigrate from Oregon, indicating that Oregon is part of a metapopulation with Idaho and Washington.

THE HARD ROAD TO COLORADO

In Wyoming, wolves in the northwestern portion of the state are managed with some hunting allowed in areas outside Yellowstone National Park. In the rest of the state, wolves are considered a nuisance species and can be killed with no limit, Odell said.

A wolf must make a 120-mile trek from the southern edge of Wyomings Wolf Trophy Game Management Area through high desert hills, sagebrush seas, canyons and across Interstate 80 to get to the Colorado border. During that trip, by Wyoming law, they can be killed without limitation.

It is a challenge and this does seem to be the first time two individuals, a male and a female have made it down and found each other and successfully reproduced, Odell, with Colorado Parks and Wildlife, said. Wolf management in Wyoming, they manage it as a game species in the northwest part of the state and, then outside of that its a varmint species, so there is quite a challenge for animals to cross that landscape.

Because of the difficulty in crossing through southern Wyoming, Odell said this pack is likely a mated pair that produced pups in or near Colorado.

Denny Behrens, Colorado Stop the Wolf Coalition co-chairman and regional director for Big Game Forever, said this natural reproduction and the known instances of wolves dispersing into Colorado in the past make further reintroduction efforts, like the initiative that will appear on the November ballot this year, moot.

Theres no need for introduction in this state, Behrens said. They are naturally dispersing out of the nonessential experimental area up in Wyoming and so its the same thing. Theyre moving into Washington and Oregon and California.

Tomback said she is skeptical that dispersing wolves will make it to Colorado frequently enough to provide the necessary genetic diversity to ensure the continued survival of the population.

If people want to reintroduce wolves into Colorado, its going to take more than waiting for this to happen, Tomback said. The last 25 years have shown that, yes, individual wolves may disperse and make it down, but theyre not able to find another wolf of the right sex and form a pack. So wolf reintroduction, scientifically, the reality is its going to take some help to get that genetic diversity and to get the numbers down where wolves can form packs with each other.

Donovan has proposed a bill to provide for the reintroduction of wolves, but only after a funding source has been identified to pay for wolf management and reimbursement to ranchers who lose livestock to wolf depredation. It also gives five years for the current wolf population to establish naturally before moving forward with reintroduction.

Donovan said she was pursuing the legislation to take a deliberative approach to the question of wolf management and reintroduction, but she said many unknowns still surround the states lone pack.

We will have to see if they settle down in a range, if they reproduce this spring, Donovan said. Right now, we dont know if we have a roaming pack of teenagers or if we have a group thats looking to settle down in Colorado.

While the first pack in Colorado is historic being the first to cross that hostile terrain, find each other and perhaps settle here for good they are only the start of what could mark the first return of a real population of wolves in the state in 80 years, Odell said. Whether through human reintroduction or from wolves dispersing from the north, the formation of more packs will be needed if wolves are going to once again range widely throughout Colorado.

With a ballot initiative coming in November, a bill proposed in the Senate and at least six wolves wandering through northwest Colorado wilderness, Donovan said looking into all the issues wolves represent is now more important than ever.

We have wolves in Colorado and we suspect that delisting could come out of D.C. sooner rather than later, Donovan said. I think it is a perfect time to look at these issues in a very thoughtful way with the folks in the room who are most excited about having wolves in the mountains again and what that means and the people in the room who are most concerned about what it means to have a federal land lease and a wolf pack as your neighbors.

Read more:
Moffat County wolves open up a new pack of issues - The Grand Junction Daily Sentinel

By Nigel Bowen

When John Kelly took part in a traditional rite of passage for the Irish a year-long backpacking trip around Australia he had no idea that a quarter of a century later hed be exporting innovative Australian medical technology to the world.

I visited in my early twenties and loved the quality of life. So I moved here permanently in my late twenties and continued my career in the medical device industry, explains Kelly.

In the following years, the success of his two employers ResMed and Unilife Corporation in developing easy-to-use medical devices inspired Kelly to create a game-changing medical device of his own.

The experiences of his daughter had highlighted how costly and time-consuming the process of blood test diagnosis was for both patient and medical practitioner. Typically, one trained medical professional was required to extract the blood and send it to a laboratory to be analysed by another trained medical professional. Then, the patient was required to make another appointment to learn the results regardless of the outcome.

With this in mind, Kelly resigned from his position as Unilife Corporations Chief Operating Officer in 2008 and launched a start-up called Atomo Diagnostics the following year. His goal was to create a simple and accurate blood test that was as straightforward and immediate as a home pregnancy test.

Making self-testing easy

Six years later Atomo Diagnostics has two rapid test products in market. The innovative design of the device is easy to use compared with competing products and makes it possible to test on-the-spot, allowing for self-testing in the future. With all of the various testing elements integrated within the one device rather than bits in boxes, the error margin is significantly reduced.

While it didnt take particularly long for validation via government grants, private funding, accolades and industry interest, in the early days Kelly was very aware he was taking a huge gamble.

Theres no way of knowing if these things are going to be a waste of time, effort and money until youve at least got a working prototype, notes Kelly. During that initial phase the company was funded with my money along with IDEs, a product development company I partnered with to produce the device. If the assumptions in the business plan, of which there were many, had been wrong I would have lost several hundred thousand dollars and 18 months of my life.

Kelly believes federal government grants and tax breaks played a crucial role in the success of what was to become the AtomoRapid platform. Funding at key stages of the business, from concept to commercialisation, were critical in getting the idea off the ground.

Commercialisation Australia provides funding to businesses when they really need it and if they hadnt provided it to Atomo who knows if wed have been able to develop the concept, prove it in the market and get the private investment we subsequently got, said Kelly.

Kelly took several personal measures to increases his chances of success. Despite having undergraduate qualifications in mechanical engineering and a Masters in systems engineering under his belt, Kelly embarked on an MBA at the University of Sydney in the hope of broadening his skill set and better support his company.

I had the technical background but I felt I needed to round out my executive management skills. The MBA certainly provided that, along with allowing me to expand my network, which turned out to be useful. One of my classmates now sits on the board of Atomo.

Improving the accuracy of testing

Following a huge amount of time and investment, by 2013 Atomo Diagnostics had a rapid blood test ready for testing in the field and had convinced diagnostic industry multinational BBI Solutions to help commercialise it. Seeing the opportunities to positively impact accuracy of HIV testing, the company decided to test first in the South African cities of Johannesburg, Cape Town and Pretoria. According to Kelly, errors with the existing tests result in tens of thousands of people being incorrectly diagnosed as negative for HIV each year. Those people then go without treatment and have a higher risk of unknowingly pass the disease on to others.

We picked Africa because it has the highest disease burdens globally for HIV and malaria. It was not hugely profitable compared with other tests and other developed markets, however HIV and malaria have the biggest impact on global health and deserved our focus, Kelly says.

Up against a number of competing rapid testing products, Kelly says healthcare professionals who used the all-in-one AtomoRapid HIV test found it far more straightforward than the bits in a box tests sold by other companies.

The feedback was fantastic one woman whod been testing people for 15 years used the AtomoRapid platform for one day then told her boss she never wanted to use anything else ever again, says Kelly.

It has made testing simpler and more accessible by combining the lancet [needle], capillary tube [storage unit] and test strip [results] into one device, said Phillip Smith, project leader for mobile services at the Desmond Tutu HIV Foundation in South Africa

Our counsellors found it was simpler to use than traditional tests and had a much clearer test strip, making it easier to identify the outcome. The device is so straightforward were now investigating the feasibility of allowing self-testing.

Collaboration across the globe

Across the other side of the globe in New York, the Atomo products have also been turning heads. At the 2014 Medical Design Excellence Awards the AtomoRapid HIV (1&2) integrated rapid antibody test won Best in Show, with the judges declaring that the product was earth-shaking in its potential significant impact on third-world detection of infectious disease, global public health and individual healthcare.

The award is the latest in a bevy of accolades for the device ranging from the 2012 Engineers Australia Bradfield Award to taking out first place in Anthills SMART 100 Australian Innovations for 2014.

Far from worrying about losing of hundreds of thousands of dollars as he was in the early days, Kelly is now focused on building a company that could end up with a market capitalisation of hundreds of millions of dollars and make a difference for millions of people around the globe.

Weve just launched an AtomoRapid platform that tests for malaria in Africa, weve done a deal with a US company about adapting the platform for use as a home test for blood coagulation, were talking to some pharmaceutical companies about developing custom diagnostics for things such as allergies and kidney function, and weve recently signed a Memorandum of Understanding with a large listed Chinese healthcare company that want the rights to use our technology in their country. And thats just what weve achieved with the current platform, he says, hinting at big future plans for Atomo Diagnostics.

Once we develop it further, particularly if we can incorporate multi-sensor technology, we can start doing things such as genetic testing or testing for a range of different diseases, rather than just one.

If successful, these developments would mean a global game change for patients and the healthcare industry alike.

This post was previously published on australiaunlimited.com and is republished here under a Creative Commons license.

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Reinventing the Blood Test - The Good Men Project

Little Finlay Duthie is one a billion or 7.8billion as he is the only known child in the world to have a condition which could end his life at any time.

Finlay, 11, has hyper-oricemia pulmonary hypertension (HUPRA) a genetic syndrome only discovered in 2010 in three children in Palestine, who have all died.

But Finlays condition is a unique mutation of the condition which means his parents cannot tell how it will progress.

He was only diagnosed a year ago after years of genetic testing.

In the cases of the Palestinian children and the handful subsequently diagnosed around the world with HUPRA, all were dead by four years old.

HUPRA is an extremely rare mitochondrial disease.

Mitochondria are structures in cells which convert food to energy but in HUPRA patients they dont charge properly causing failure in vital organs.

Finlay will be prone to heart disease, diabetes, epilepsy and faces losing his sight and hearing.

His kidneys have already failed and dad Ross, 36, gave him one of his five years ago.

But, like all kidney transplants, the organ will not last for life so mum, Jennifer, 36, has already been tested as a match and is on stand-by. She said: We had hoped to get him to his teenage years without the transplant but his kidneys failed.

He is now on anti-rejection drugs which means his immune system is low so he gets really ill and ends up in hospital with bugs most people would shake off in a couple of days.

Finlay has had 13 operations including ones for biopsies when cancer was feared on two occasions because of the increased risk with anti-rejection drugs.

Although he is 11, he has a mental age of three because one of the other effects of the condition is global developmental delay. He also has autism. Former nurse Jennifer, who runs a toddler sensory group, added: Finlay is normally a happy little guy really cheeky and always has a smile on his face. He has no awareness of how unwell he is.

The couple, from Stirling, have another son Harrison, 15 months, who is a carrier but unaffected.

Jennifer said: Finlay has some of the same symptoms as other HUPRA patients and some different ones. We think he is the only one in the world with this variation.

It is good in a way because his variation has allowed him to live longer. But it is also a double-edged sword because we are dealing with something no one knows about.

We have no idea what the future holds.

Read more:
Scots boy is one of handful diagnosed with rare condition - and the only one still alive - Daily Record

SELBYVILLE, Del., Feb. 27, 2020 /PRNewswire/ -- Global Market Insights, Inc. has recently added a new report on genetic testing market which estimates the global market valuationfor genetic testing will cross US$ 28.5 billion by 2026. A growing demand for DTC genetic testing will drivemarket expansion over the forecast period. Genetic testing can project the risk of diseases, identify carriers and establish diagnoses. DTC genetic testing can help individuals identify ancestral origins and predisposition to certain illnesses. This can enable individuals to prepare or prevent the onset of certain diseases. Increasing awareness among people regarding their health will drive industry growth.

Growing adoption of genetic testing in oncology and genetic diseases in North America will propel the market expansion. Genetic testing to determine the probability of cancer and rare diseases helps in planning the treatment. Genetic testing helps in the formulation of the most effective treatment for cancer and other diseases. Hence, the growing application of genetic testing in cancer and genomic disorders will fuel the genetic testing market growth.

Requesta sample of this research report @https://www.gminsights.com/request-sample/detail/2490

Nutrigenomic testing was valued at USD 408.9 million in 2019 and will witness significant growth over the forecast period. Nutrigenomic testing determines how genetic variations change the individual reaction to nutrients. Nutrigenomic can assist with optimum nutritional planning. Rising incidence of obesity due to increased consumption of junk food and sedentary lifestyle will fuel the segment growth over the forecast period. Furthermore, growing awareness regarding customized diets will fuel market growth.

The cancer testing market held nearly 52% market share in 2019 and will exhibit robust growth in the forecast period. The growth can be attributed to the advancements in genetic testing that can confirm the diagnosis. Furthermore, genetic testing can help with the formulation of the most effective drugs for the treatment of cancer, improving patient outcomes. These factors will boost the growth of the cancer testing segment.

The European genetic testing market held a substantial value in 2019 and is poised to exhibit nearly 13% CAGR over the forecast period. The growing geriatric population will boostdemand for genetic testing in the region. Furthermore, presence of key market players in the region will positively impact the technology adoption. Additionally, favorable government initiatives to harmonize genetic testing and ensure accurate and reliable results will boost market growth.

Browse key industry insights spread across 146 pages with 138 market data tables & 8 figures & charts from the report, "Genetic Testing Market Share & Forecast, 2020 2026" in detail along with the table of contents:

https://www.gminsights.com/industry-analysis/genetic-testing-market

Some major findings of the genetic testing market report include:

Few notable players in the genetic testing market share are 23andME, Abbott Molecular, Bayer Diagnostics, Cepheid, Counsyl, PacBio, Illumina Inc., Qiagen, Roche Diagnostics, BioCartis, and Siemens. The market players are adopting strategies such as innovative product launches and acquisitions to expand their customer base and market share.

Make an inquiry for purchasing this report @https://www.gminsights.com/inquiry-before-buying/2490

Partial chapters of report table of contents (TOC):

Chapter 2. Executive Summary

2.1. Genetic testing industry 360synopsis, 2015 - 2026

2.1.1. Business trends

2.1.2. Test-type trends

2.1.3. Application trends

2.1.4. Regional trends

Chapter 3. Genetic Testing Industry Insights

3.1. Industry segmentation

3.2. Industry landscape, 2015 - 2026

3.3. Industry impact forces

3.3.1. Growth drivers

3.3.1.1. Physician adoption of genetic tests into clinical care

3.3.1.2. Technological advancements and availability of new tests

3.3.1.3. Growing application of genetic testing in oncology and genetic diseases in North America

3.3.1.4. Consumer interest in personalized medicines in Europe

3.3.1.5. Growing demand for direct-to-consumer genetic testing

3.3.2. Industry pitfalls & challenges

3.3.2.1. High costs of genetic testing

3.3.2.2. Dearth of experienced professionals and advanced infrastructure in developing and underdeveloped economies

3.4. Growth potential analysis

3.4.1. By test type

3.4.2. By application

3.5. Regulatory landscape

3.5.1. U.S.

3.5.2. Europe

3.6. Market share analysis, 2018

3.6.1. Market share analysis, by North America, 2018

3.6.2. Market share analysis, by Europe, 2018

3.6.3. Market share analysis, by Asia Pacific, 2018

3.6.4. Market share analysis, by Latin America, 2018

3.6.5. Market share analysis, by Middle East & Africa, 2018

3.7. Porter's analysis

3.8. Competitive landscape, 2018

3.8.1. Strategy dashboard

3.9. PESTEL analysis

About Global Market Insights

Global Market Insights, Inc., headquartered inDelaware, U.S., is a global market research and consulting service provider, offering syndicated and custom research reports along with growth consulting services. Our business intelligence and industry research reports offer clients with penetrative insights and actionable market data specially designed and presented to aid strategic decision making. These exhaustive reports are designed via a proprietary research methodology and are available for key industries such as chemicals, advanced materials, technology, renewable energy and biotechnology.

GMIPulse,our business analytics platformoffers an online, interactive option of exploring our proprietary industry research data in an easy-to-use and dynamic manner. Clients get to explore market intelligence across 11 top-level categories and hundreds of industry segments within them, covering regional, company level and cross-sectional statistics that make our offering a stand-out for decision-makers.

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genetic-testing-market-size-will.jpg Genetic Testing Market size will exceed $28.5 Bn by 2026 Genetic Testing Market size slated to surpass USD 28.5 billion by 2026, according to a new research report by Global Market Insights, Inc.

Related Links

Direct-to-Consumer Genetic Testing Market

Prenatal and New-born Genetic Testing Market

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SOURCE Global Market Insights, Inc.

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Genetic Testing Market demand to hit USD 28.5 Bn by 2026: Global Market Insights, Inc. - P&T Community

Ohtawara, Japan; February 27, 2020 - Canon Medical Systems Corporation (Canon Medical) announces the start of development of a rapid genetic testing system for the novel coronavirus (COVID-19) reaffirming the companys commitment to the basic research and development of rapid diagnostic test kits. This project is part of a research program focusing on the development of diagnostic methods for COVID-19 led by the Japan Agency for Medical Research and Development (AMED).1)

Canon Medical was selected to participate in this research program in cooperation with Nagasaki University. This was in recognition of Canon Medicals strength in leveraging the companys technologies in delivering practical solutions to support medical emergencies, notably by supplying Ebola rapid test kits to the Republic of Guinea in 2015,2) donating Ebola rapid test kits to the Democratic Republic of the Congo in 2019, and through the manufacturing approval and sale of the Genelyzer KIT (a reagent kit for Zika virus RNA testing) in 2018.3)

The test and the reagents developed for COVID-19 RNA testing is based on the LAMP method4) developed by Eiken Chemical Co., Ltd., and are used with a compact isothermal amplified gene fluorescent detector manufactured by Canon Medical to detect the presence of virus. Compared to the conventional test method of real-time PCR, the LAMP method allows for detection of the virus to be performed more easily and quickly, which makes it suitable for testing in local areas where infection is prevalent.

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About Canon Medical Systems USA, Inc.Canon Medical Systems USA, Inc., headquartered in Tustin, Calif., markets, sells, distributes and services radiology and cardiovascular systems, including CT, MR, ultrasound, X-ray and interventional X-ray equipment. For more information, visit Canon Medical Systems website at https://us.medical.canon.

About Canon Medical Systems CorporationCanon Medical offers a full range of diagnostic medical imaging solutions including CT, X-Ray, Ultrasound, Vascular and MR, as well as a full suite of Healthcare IT solutions, across the globe. In line with our continued Made for Life philosophy, patients are at the heart of everything we do. Our mission is to provide medical professionals with solutions that support their efforts in contributing to the health and wellbeing of patients worldwide. Our goal is to deliver optimum health opportunities for patients through uncompromised performance, comfort and safety features.

Read more from the original source:
Canon Medical to commence development of a rapid genetic testing system for the novel coronavirus (COVID-19) - DOTmed HealthCare Business News

A rare disease is defined as any disease that affects a small percentage of the population. In the United States, a disease is classified as rare when fewer than 200,000 individuals are affected by it. According to the National Institutes of Health, there are approximately 6,500 to 7,000 known rare diseases affecting an estimated 25 million Americans.

One of these is Loeys-Dietz Syndrome (LDS), a disorder of connective tissue that can affect blood vessels, including the aorta, as well as bones, joints, cognitive ability and internal organs.

Here, Michigan Medicine cardiologist Marion Hofmann, M.D., who typically treats 10 to 15 Loeys-Dietz patients each year, sheds some light on this complex rare disease.

LDS is caused by a mutation in the TGFBR1, TGFBR2, SMAD3, TGFB2 or TGFB3 genes, as we know today. More could be identified in the future.

Loeys-Dietz Syndrome is a genetic condition, but not always inherited. In patients with the condition, we usually recommend genetic testing of the parents and siblings to see if it is inherited or if it is a new mutation. If the parent or siblings of a patient diagnosed with LDS do not test positive for the genetic variant, we assume the variant is present for the first time in one family member. This occurs in approximately 75% of LDS cases. There is a 50% chance the gene will be passed on regardless of whether LDS was inherited or a first time mutation.

Because relatively common symptoms can camouflage LDS, the condition may go undiagnosed until a serious complication occurs. Patients might be diagnosed with Loeys-Dietz after an aortic aneurysm (a weakened or bulging area on the wall of the aorta) is found on a CT scan or echocardiogram, or after experiencing a life-threatening aortic dissection (a tear in the inner layer of the aorta) or a dissection in other arteries. If a patient experiences either of these vascular conditions, we would likely suggest genetic testing to determine if Loeys-Dietz Syndrome was the cause.

In approximately 20% of patients experiencing an unexplained aortic dissection, we find gene abnormalities, including LDS, that predispose to aortic disease.

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Some patients, but not all, are diagnosed because of certain skeletal characteristics that point to Loeys-Dietz. These include a chest wall deformity in which the chest wall pushes outward or appears sunken, scoliosis, long and slender fingers, flexible joints, flat feet, translucent skin, abnormal scarring of the skin and a bulging or widening of the spinal sac surrounding the spinal cord. However, the spectrum of the disease is very broad and were finding that not all LDS patients exhibit these characteristics.

Genetic testing confirms a suspected LDS diagnosis. Other similar disorders such as Marfan Syndrome and Ehlers-Danlos Syndrome can present similar characteristics, so genetic testing is important to differentiate these disorders. In recent years weve realized just how complex LDS is. As clinical genetic testing is more commonly used, diagnostic accuracy for LDS has improved and were learning more about how LDS presents. For example, were finding that family members carrying the same mutation are affected differently. Cardiac and genetic evaluation of all family members is important for patients with LDS to identify other relatives at risk for the condition.

Patients with Loeys-Dietz need regular checkups and vascular imaging to identify high-risk situations that could lead to aortic dissection. We recommend medication to avoid high blood pressure, which puts stress on weakened areas of the aortic wall, lifestyle modifications and preventive surgery to treat aortic aneurysms deemed to be at high risk for dissection. Patients with LDS are typically prescribed beta blockers or angiotensin receptor blockers.

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Anyone experiencing an aortic dissection or an aneurysm requires lifelong care as they are more likely to have a future event. Patients with LDS require special counseling for family planning and during pregnancy.

Additional information comes from nationwide patient support groups and their symposiums. The U-M Frankel Cardiovascular Center, in collaboration with the Marfan Foundation, is hosting the Detroit regional symposium for Marfan Syndrome and related disorders on April 25, 2020.

Weve been able to gain important knowledge about LDS and other aortic-related conditions through worldwide collaboration of researchers interested in LDS and aortic dissection in general. The International Registry on Aortic Dissection was launched in 1996 and the Montalcino Aortic Consortium was formed in 2013 to collect and share information about the genetic causes of aortic dissection. The next GenTAC Aortic Summit, which is committed to advancing research, education and treatment of heritable aortic diseases, will be held October 10 and 11, 2020, in Ann Arbor, Michigan, and will be hosted by Michigan Medicine cardiologist Kim Eagle, M.D. Through these resources, were learning more about the condition and gaining insight into diagnosis and treatment advancements.

Importantly, 10-20% of patients with a history of what was thought to be sporadic or unexplained aortic dissections actually have an identifiable genetic cause, including LDS. Being able to pinpoint the genetic causes of disease is very powerful. It allows health care providers to use a gene-based medical management strategy, which is the goal of personalized medicine. Genetic counseling and potentially genetic testing is very important for family members of patients with unexplained aortic dissections as well as with Loeys-Dietz Syndrome.

Read the original here:
Loeys-Dietz Syndrome A Rare and Complex Heart Disease - University of Michigan Health System News

I love working with people, says Allison Werner-Lin of the School of Social Policy & Practice (SP2). Werner-Lins office overlooking Locust Walk is homey and lamp-lit, with student gifts sharing space with scholarly tomes. This is just one of her workspaces, however. Recently returned from sabbatical, Werner-Lin has been working with the National Cancer Institute (NCI), as well as out of her home in upstate New York, which doubles as a private practice for families seeking bereavement therapy. The divide between academia and clinical practice suits her. I feel like I have one foot in each world and in a very positive way, Werner-Lin says.

Werner-Lin has extensive clinical and research experience and uses both to inform her work, which centers on heritable cancers. She began her academic work studying young adults with mutations in genes associated with breast and ovarian cancer, BRCA1 and BRCA2. Recently, her work with the NCI has branched out to the study of Li-Fraumeni syndrome (LFS). Patients with LFS have a mutation in a tumor-suppression gene, resulting in a high incidence of cancer starting in childhood, and 50% of LFS patients develop cancer by age 40. Both patient populations make life-altering decisions based upon their family histories and medical diagnoses.

Dr. Werner-Lins groundbreaking research merges science with social work at the intersection of qualitative health research, the structure and evolution of genes, hereditary cancer, and how it impacts individuals and families at various stages of life, says SP2 Dean Sara Sally Bachman. Each day, Allison is pushing the frontiers of genomic study and oncological social work while also mentoring other social change agents who will undoubtedly make a difference locally, nationally, and internationally.

For more than a decade, Werner-Lin has worked in the Clinical Genetics Branch of the Division of Cancer Epidemiology and Genetics of the NCI organizing the human side of research. Patients come annually to the NCI to receive full-body MRI cancer screenings and participate in data collection that covers everything from cancer history to family communication to risk management. Werner-Lin mentors an interdisciplinary team of predoctoral and postdoctoral fellows to explore how these families understand and cope with genetic information. Her work is used to train providers in delivering holistic medical and psychological care.

We talk with families about their experiences communicating cancer-risk information with loved ones, making reproductive decisions, and managing the endless cycle of screening, Werner-Lin says. She has seen patterns in how families share cancer-risk information and seek support, noting that information travels based on relationship patterns and emotional closeness, not necessarily degree of risk.

People with LFS have limited options for cancer prevention, and expectations for a cancer diagnosis and early death are common. Were seeing a lot of physical loss, where amputations and other changes in physical function are common consequences of treatment.

Many of the people Werner-Lin speaks with are looking at different pathways to parenthood or are choosing not to have children at all, she says. Grief becomes a chronic part of their lives, and those kinds of sustained of losses can connect individuals in and across families.

Former SP2 graduate student Catherine Wilsnack is a Cancer Research Training Award Fellow at the NCI, doing qualitative research as part of Werner-Lins team. Wilsnack first met Werner-Lin while in her second year at SP2 and calls the encounter transformative. Werner-Lin is a phenomenal mentor in every way, says Wilsnack, who earned her masters in social work (MSW) in 2019. She always goes above and beyond for her students. I would not be where I am today if it were not for her and her guidance, so I just feel extremely lucky.

Now in midcareer, Werner-Lin is taking the time to mentor younger generations. There are so many opportunities to focus on other peoples career development without such a bounded focus on my own professional needs, she says, crediting her own mentors with the ability to achieve professional success.

At Penn, Werner-Lin is involved in the Cancer Moonshot initiative led by Katherine Nathanson and Steve Joffe, an effort designed to accelerate cancer research aimed at prevention, detection, and treatment. Werner-Lins aspect of the project, based at the Abramson Cancer Center at Penn Medicine, involves issues surrounding genetic testing in people aged 18 through 40. Susan Domchek, executive director of the Basser Center for BRCA, says, Allisons work in terms of the psychosocial implications of having a BRCA mutationhow an individual can come to terms with that and how that information gets disseminated between familieshas been extremely helpful. She has a deep expertise on helping families navigate these situations.

Approximately 1 in 400 people carry mutated breast cancer genes, though mutations are more common in certain groups of people. The gene mutations are passed in an autosomal dominant pattern, meaning each parent with a mutation has a 50% chance of passing it on. Children of a BRCA-positive parent can pursue genetic testing to learn if they carry the mutation, adding pressure to family planning.

Werner-Lin was one of these children. Her mother has a BRCA1 mutation. She recovered from colon cancer when Werner-Lin was in college and is currently in remission from a rare ovarian cancer. When I was 23 and was thinking about having kids, I couldnt figure out how to do it, Werner-Lin says. I started talking to people, talking to other women, and that became my dissertation.

This curiosity and compassion led Werner-Lin to operate a private therapy practice out of her home, where she exclusively sees children and young adults with a deceased parent. People often dont see how therapy is connected to the genetics part of my work, but for me they are inseparable, Werner-Lin says. In my cancer work, parents often die young, leaving small children. Frequently, the children of cancer patients conflate their parents lives with their own, not seeing options, degrees of freedom, or technological innovation.

Working together with an MSW student, Werner-Lin does whole family-therapy, from diagnosis to end-of-life, through the grieving process. She helps to facilitate goodbyes, talks about legacy building, and makes the concept of death more concrete for young people.

The language adults use to talk about death is often confusing and shrouded in existential concepts, Werner-Lin says, citing references to angels or going to a better place. Young kids dont necessarily understand time or geography, she says. If were in New York, and Mommy went to the other side, is that a better place?

Instead, she says, we talk about the brain being a light switch, and once you turn it off you cant turn it on again. We talk about how the heart stops beating and the eyes stop seeing. These practical realities are important, Werner-Lin says. Kids need to understand the way the world is predictable, especially when people they love and need can fall off the earth at any moment.

Now back on campus, Werner-Lin is focusing on teaching and engaging with her graduate students. Acting in service to her patients, her students, and her colleagues is a core part of Werner-Lins brand of academia. If you tell her that you want to do something, Wilsnack says, she will go out of her way to help.

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Working on 'the human side' of heritable cancers - Penn: Office of University Communications

SELBYVILLE, Del., Feb. 27, 2020 /PRNewswire/ -- Global Market Insights, Inc. has recently added a new report on genetic testing market which estimates the global market valuationfor genetic testing will cross US$ 28.5 billion by 2026. A growing demand for DTC genetic testing will drivemarket expansion over the forecast period. Genetic testing can project the risk of diseases, identify carriers and establish diagnoses. DTC genetic testing can help individuals identify ancestral origins and predisposition to certain illnesses. This can enable individuals to prepare or prevent the onset of certain diseases. Increasing awareness among people regarding their health will drive industry growth.

Growing adoption of genetic testing in oncology and genetic diseases in North America will propel the market expansion. Genetic testing to determine the probability of cancer and rare diseases helps in planning the treatment. Genetic testing helps in the formulation of the most effective treatment for cancer and other diseases. Hence, the growing application of genetic testing in cancer and genomic disorders will fuel the genetic testing market growth.

Requesta sample of this research report @https://www.gminsights.com/request-sample/detail/2490

Nutrigenomic testing was valued at USD 408.9 million in 2019 and will witness significant growth over the forecast period. Nutrigenomic testing determines how genetic variations change the individual reaction to nutrients. Nutrigenomic can assist with optimum nutritional planning. Rising incidence of obesity due to increased consumption of junk food and sedentary lifestyle will fuel the segment growth over the forecast period. Furthermore, growing awareness regarding customized diets will fuel market growth.

The cancer testing market held nearly 52% market share in 2019 and will exhibit robust growth in the forecast period. The growth can be attributed to the advancements in genetic testing that can confirm the diagnosis. Furthermore, genetic testing can help with the formulation of the most effective drugs for the treatment of cancer, improving patient outcomes. These factors will boost the growth of the cancer testing segment.

The European genetic testing market held a substantial value in 2019 and is poised to exhibit nearly 13% CAGR over the forecast period. The growing geriatric population will boostdemand for genetic testing in the region. Furthermore, presence of key market players in the region will positively impact the technology adoption. Additionally, favorable government initiatives to harmonize genetic testing and ensure accurate and reliable results will boost market growth.

Browse key industry insights spread across 146 pages with 138 market data tables & 8 figures & charts from the report, "Genetic Testing Market Share & Forecast, 2020 2026" in detail along with the table of contents:

https://www.gminsights.com/industry-analysis/genetic-testing-market

Some major findings of the genetic testing market report include:

Few notable players in the genetic testing market share are 23andME, Abbott Molecular, Bayer Diagnostics, Cepheid, Counsyl, PacBio, Illumina Inc., Qiagen, Roche Diagnostics, BioCartis, and Siemens. The market players are adopting strategies such as innovative product launches and acquisitions to expand their customer base and market share.

Make an inquiry for purchasing this report @https://www.gminsights.com/inquiry-before-buying/2490

Partial chapters of report table of contents (TOC):

Chapter 2. Executive Summary

2.1. Genetic testing industry 360synopsis, 2015 - 2026

2.1.1. Business trends

2.1.2. Test-type trends

2.1.3. Application trends

2.1.4. Regional trends

Chapter 3. Genetic Testing Industry Insights

3.1. Industry segmentation

3.2. Industry landscape, 2015 - 2026

3.3. Industry impact forces

3.3.1. Growth drivers

3.3.1.1. Physician adoption of genetic tests into clinical care

3.3.1.2. Technological advancements and availability of new tests

3.3.1.3. Growing application of genetic testing in oncology and genetic diseases in North America

3.3.1.4. Consumer interest in personalized medicines in Europe

3.3.1.5. Growing demand for direct-to-consumer genetic testing

3.3.2. Industry pitfalls & challenges

3.3.2.1. High costs of genetic testing

3.3.2.2. Dearth of experienced professionals and advanced infrastructure in developing and underdeveloped economies

3.4. Growth potential analysis

3.4.1. By test type

3.4.2. By application

3.5. Regulatory landscape

3.5.1. U.S.

3.5.2. Europe

3.6. Market share analysis, 2018

3.6.1. Market share analysis, by North America, 2018

3.6.2. Market share analysis, by Europe, 2018

3.6.3. Market share analysis, by Asia Pacific, 2018

3.6.4. Market share analysis, by Latin America, 2018

3.6.5. Market share analysis, by Middle East & Africa, 2018

3.7. Porter's analysis

3.8. Competitive landscape, 2018

3.8.1. Strategy dashboard

3.9. PESTEL analysis

About Global Market Insights

Global Market Insights, Inc., headquartered inDelaware, U.S., is a global market research and consulting service provider, offering syndicated and custom research reports along with growth consulting services. Our business intelligence and industry research reports offer clients with penetrative insights and actionable market data specially designed and presented to aid strategic decision making. These exhaustive reports are designed via a proprietary research methodology and are available for key industries such as chemicals, advanced materials, technology, renewable energy and biotechnology.

GMIPulse,our business analytics platformoffers an online, interactive option of exploring our proprietary industry research data in an easy-to-use and dynamic manner. Clients get to explore market intelligence across 11 top-level categories and hundreds of industry segments within them, covering regional, company level and cross-sectional statistics that make our offering a stand-out for decision-makers.

Contact Us:

Arun HegdeCorporate Sales, USAGlobal Market Insights, Inc.Phone:1-302-846-7766Toll Free:1-888-689-0688Email:sales@gminsights.com

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genetic-testing-market-size-will.jpg Genetic Testing Market size will exceed $28.5 Bn by 2026 Genetic Testing Market size slated to surpass USD 28.5 billion by 2026, according to a new research report by Global Market Insights, Inc.

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Prenatal and New-born Genetic Testing Market

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Genetic Testing Market demand to hit USD 28.5 Bn by 2026: Global Market Insights, Inc. - PRNewswire

Its hard enough for any cancer patient to get into clinical trials. Its even harder for a patient with a rare cancer like Todd Mercer.

Mercer, a 52-year-old defense industry professional, lives in Michigan with his wife and their two teenagers. At age 50, Mercer got a colonoscopy, as is recommended for people his age, and received a clean bill of health. Six weeks later, his appendix burst.

The diagnosis, which came in December 2017, was cancer of the appendix. It was the tumor that had ruptured his appendix just beyond the reach of the endoscopic exam meaning his cancer was effectively stage 4 at diagnosis. Mercers cancer has since spread to his liver and lungs.

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Mercer first started looking for clinical trials in November 2018, after his cancer recurred for the first time. Since then, hes been turned down from five studies, and is now trying to get into a sixth.

Mercer recently called in to STATs podcast The Readout LOUD to talk about his experience hunting for a trial that will be willing to take him. Its an experience thats frustratingly familiar in a system in which only about one-seventh of adult cancer patients who are eligible to enroll in clinical trials actually sign up.

What kinds of trials are you looking at?

Originally, I looked at clinical trials that were new and exciting and seemed to have some science behind them that might be promising. Lately, though, Ive done some genetic testing thats revealed some genetic information that is leading me towards trials that are designed for the particular blockades or the phenotypes that my genetic testing has introduced. So, now, Im actually being more strategic about my trial hunt.

Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome.

Why is it important to you to enroll in a clinical trial?

For me, its hope. And its a little bit of hope for others as well.

If I look online, if I look at the data, I can see the trajectory of where my disease is headed with standard of care. Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome thats understanding my diagnosis, understanding my cancer, becoming an advocate for myself, for my treatments, for my care.

I can also look out at whats on the horizon: What other new drugs and new treatments are out there that are helping people? And some of those are in trials, or at least thats my hope. New drugs are being created all the time. There has been promise in other cancers, and so Im looking for that promise in my cancer.

Youve tried to get into five clinical trials and were turned away. Tell us some of the reasons why you were unable to participate in those studies.

For me, the tumor origination in my appendix was my number one obstacle. A lot of trials are designed to enroll only people whose cancer originated in a particular organ. Thats because drug makers are often seeking FDA approval only for cancer with that particular site of origin. And so trials are very careful about which patients they let into the trial because it wont do them any good to collect data on someone with an orphan disease like mine. Not all trials are prohibitive of appendiceal cancer, but many of them are.

Number two for me and so this probably affects more people is something called measurable disease. When you have measurable disease, that means your cancer has formed in such a way that doctors can do a particular measurement. For example, a radiologist can do a measurement to say how large your cancer is to begin with and then how much the treatment affects it in terms of percentage. Is it growing by 10%? Is it shrinking by 20% or 30%? If you dont have measurable disease, many trials wont take you because then they cant get those data.

But theres another factor called evaluable disease, which means the cancer may not be technically measurable but it can still be evaluated. Some clinical trials will use that characteristic. And so I have to find an evaluable trial because, so far, my cancer hasnt been measurable. Now, it could develop that way, but for now, I have to look at other things.

And then Id say the third biggest obstacle for me is exposure. If youve already been exposed to a drug thats in the trial, many trials will exclude you from being in that study. They want virgin candidates who have never been exposed to those particular drugs before, so they know that its the way the drug is administered in the study thats affecting the outcome.

Which kinds of drugs have you been exposed to so far?

Because of my particular situation with an orphan disease, my oncologist has been open to trying some drugs off-label, meaning well do a trial of one for just me. Hell request the drugs, and then we will design a trial that mimics a trial that might be out there at an institution. So he has a pretty good idea of its safety profile and that the drugs arent going to interact inappropriately.

I tried an immunotherapy drug in that situation. And then once I did that, it didnt work. That now prevents me from most trials that have that particular drug in it. I wanted to try it because I wanted to try immunotherapy. Thats a big hope out there for a lot of cancer patients, that can not only bring you into remission, but possibly a cure. So I wanted to expose myself to that, but the tradeoff is that I cant apply to some other trials.

This is not a unique situation in terms of patients getting access to clinical trials. What are you hearing from fellow patients about why theyre getting rejected and how they feel about it?

I havent run into this, butsome people get turned down as they get sicker and sicker ,and their blood work comes back with higher enzymes or is deemed out of tolerance. So, theyre not allowed into the trials as theyre too sick. So we try to advocate to people with cancer: Dont wait until the very end to try trials. Try them while youre still healthy enough to test the medicine, when theyll take you.

People can also be shut out of trials even they meet a trials inclusion criteria. Cost is a big obstacle. The trial will usually pay for the drugs, but a lot of the time it wont pay for the travel to get there, or the doctor exams and the radiology exams, and things like that. So if you dont have good insurance, those costs would become out-of-pocket costs.

Location is another obstacle. Im lucky Im healthy enough to travel right now, so I can get to a trial anywhere. But a lot of people arent either financially or health-wise able to travel to some of these trial locations.

There can, of course, be sound medical and scientific reasons why certain patients arent allowed to enroll in a trial; the goal of scientific research, after all, is to evaluate an experimental treatment as rigorously as possible. But at the same time, theres a growing line of thought that certain exclusion criteria are overly restrictive, especially when so many clinical trials go unfilled. From your vantage point as a patient, how do you think these concerns should be balanced?

Things are restrictive. I mean, cost, location, the exclusion criteria. I try to look at it a little bit differently.

There are a lot of trials out there and a lot of patients. But the trials dont necessarily always publish what their target is. What is the science behind the trial? Are they attacking a particular mutation, a typical blockade, a phenotype? What science directed them to try that combination of drugs or develop that new drug? What are they trying to determine? That needs to be a required piece of information about trials.

And then correspondingly, the patients and the doctors need to be educated on the value of genetic testing.

No patient should ever be diagnosed with cancer without getting genetic testing. That way, you learn what the particular characteristics of your cancer, of your tumor are, what mutations you have, what your blockades are? And if you have that information about your cancer, and the trial is making that information available about what theyre targeting, then youre going to be more desirous of getting into that trial.

So itll incentivize the patients and the doctors to seek out those trials. And then if those trials know that there is a population of patients out there with those particular characteristics that theyre looking for, then theyre incentivized to reach out to those doctors and those patients to find them, to make those matches. Youve got to match the two.

And really, there just needs to be a platform that matches the patients to the trials, and the trials to the patients. Right now, there are for-profit companies out there working on this. Its a large endeavor to gather patient information. Theres all kinds of privacy ramifications. But the problem is theyre selling that information to institutions. So the institution has to buy the information to understand the patient population, the trial population. It becomes problematic very quickly for that information to get into the hands of the doctor, into the hands of the patients, or the hands of the trials where those patients are. Its not being done right now.

Youre now trying to get into a sixth trial. Tell us where things stand there.

So far, its encouraging. It has been delayed, though.

My genetic mapping indicates that there are two drugs that are my highest blockades. And this particular trial has those two drugs in it.

Dont wait until the very end to try trials.

The problem is its a first-in-humans Phase 1 trial. Theyre doing a dose escalation meaning they start by enrolling three people and start them out at a minimal dose. And then when those three people dont have any adverse reactions, then they incorporate three more people and they increase the dose. And then if they dont have any adverse reactions, then three more and then three more until they find out what the maximal tolerating dose is.

The way they they recruit for it, they dont really open slots until theyre ready for the next three people. So Ive located the trial. It happens to be 30 minutes from where I live. So its very fortuitous.

I attended the ASCO-GI conference in San Francisco last month. I just so happened to be flying back from San Francisco to Michigan, and I sat down next to the trial director for the trial that I wanted to get into. So I was able to strike up a conversation and find out where it was with his particular institution, if there were openings or not. And the problem is: no slots have been opened because theyre still waiting for the dose escalation process to work its way out.

I was progressing on my previous treatment, so I was getting sicker and couldnt wait for the slot to open. Im now recycling the previous treatment that I was on last year to see if it will have some effectiveness, just to get me through until potentially a slot opens up. And then I will go through a 28-day detox period where they want no chemo or medicines in your system so that when you do get to the trial, they can better gauge the results. The idea is to show its not residue medicine in my system, its the actual trial drugs, that are making an effect.

Please keep us updated when you get word on that trial. Were rooting for you.

I absolutely will.

This is a lightly edited transcript from a recent episode of STATs biotech podcast, The Readout LOUD. Like it? Consider subscribing to hear every episode.

Read more here:
Rejected from five clinical trials, a cancer patient waits for one to say yes - STAT

CIBC Innovation Banking is pleased to announce a US$10 million growth capital financing for InformedDNA.

Founded in 2005, InformedDNA was built with the vision to provide genetic testing services to patients and health insurers. The company optimizes genetic-related healthcare spending and patient care by improving access to clinical and scientific genomics expertise. It is the nations largest independent provider of genetic specialists enabled by a comprehensive evidence-based knowledge library for genetic tests and hereditary conditions.

InformedDNA recently announced a strategic growth investment with private equity funds TT Capital Partners, NovaQuest Capital Management, and Frist Cressey Ventures. The company will use the capital to continue scaling its technology and expand its staff of genetic counselors.

"InformedDNA has a deep understanding of the genetic testing space and uses this knowledge to help both patients and insurance companies improve outcomes," said Jeff Chapman, a Managing Director in CIBC Innovation Bankings Menlo Park office.

"CIBC Innovation Banking understands the capital needs of our business and is willing to provide a flexible debt solution so we can continue to execute on our business strategy," added David Nixon, CEO of InformedDNA.

About CIBC Innovation Banking

CIBC Innovation Banking delivers strategic advice, cash management and funding to North American innovation companies at each stage of their business cycle, from start up to IPO and beyond. With offices in Atlanta, Austin, Chicago, Denver, Menlo Park, Montreal, Reston, Toronto and Vancouver, the team has extensive experience and a strong, collaborative approach that extends across CIBCs commercial banking and capital markets businesses in the U.S. and Canada.

About InformedDNA

InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest full-time staff of independent, board-certified genetics specialists in the U.S. to help ensure health plans, hospitals, employers, clinicians and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support. For more information: http://www.InformedDNA.com

View source version on businesswire.com: https://www.businesswire.com/news/home/20200227005493/en/

Contacts

Kathryn Lawler, 416-242-1943kathryn.lawler@cibc.com

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CIBC Innovation Banking Provides InformedDNA With US$10 Million Growth Financing - Yahoo Finance

When a patient in a hospital gets a new infectionsomething that happens often when someones immune system is compromiseddoctors still typically rely on the same tests theyve used for decades to figure out whats wrong. Running through a battery of lab tests takes time; to identify bacteria, for example, labs still put samples in a petri dish and wait to see which germ appears, a process that can take days or even weeks.

A startup called Karius, which announced this week that it raised $165 million in a funding round led by SoftBank, uses a different approach, taking a single sample of blood and using genetic testing to quickly identify more than 1,400 pathogens, including bacteria, fungi, viruses, and parasites. The doctor usually gets the results the next day.

One of the main problems with infectious diseases is that its really hard to diagnose which specific microbe is causing the infection, says Karius CEO Mickey Kertesz. Different microbes can cause the same symptoms. A doctor might guess that its a bacterial infection, and a few days later learn that it isnt. Then they might test for a fungal infection and learn that also is incorrect. Its a fairly long and tedious process until the patient is eventually diagnosed.

The traditional process also typically involves invasive tests such as taking samples of internal tissue, and the new process can avoid that. When microbes infect patients, they shed their DNA into the bloodstream, and thats what Karius is searching for. In a study at Luries Children Hospital in Chicago, researchers found that using the new process in the first round of testing could have avoided 34 invasive tests.

In some cases, traditional testing may not even be possible. We had a patient that had a brain mass in an area that neurosurgery would not be able to go and do a biopsy, says Laila Woc-Colburn, a doctor and associate professor of infectious disease at Baylor College of Medicine in Houston who works with patients with HIV and has used the new testing service. The patients symptoms could have been from one of two different diseases. Woc-Colburn was able to use genomic testing to confirm which disease the patient had so treatment could begin.

The company targeted the service first at patients with compromised immune systems, including cancer patients undergoing chemotherapy. Many cancer patients are lost to infections, not to their underlying cancer, because it is so hard to diagnose what it is that is infecting them, says Kertesz. In a study last year with St. Judes Children Hospital involving children who had bone marrow transplants, researchers found that Kariuss tech could identify infections before children felt any symptoms. If this type of testing could be used in a routine way, it could potentially save lives. The problem is that by the time you know that the child is infected, and by the time you diagnose them, this is in many cases too late, he says. The fungal or bacterial or viral infection is so strong at that stage.

The testing is generally as accurate as traditional testing. (Unlike Theranos, a startup that also touted fast analysis of blood samples but was later proven to be fraudulent, more than a dozen peer-reviewed papers have been published demonstrating that Karius works in different patient types.) The technology can also identify pathogens that dont appear on other tests, such as more than 30 species of the Legionella bacterium. Because the tech uses machine learning, sorting through tens of millions of data points to identify pathogens, it will also get more accurate over time as its used more.

The catch: Its expensive. Hospitals or clinics are billed $2,000 per test. The company argues that this can often be less expensive than the alternative of running multiple tests or keeping someone hospitalized longer. But its still a barrier. Karius is not a cheap test, says Woc-Colburn. She also says it doesnt work perfectly yetin liver transplant patients, for example, who have a disease called leaky gut where bacteria may leak from the intestinal wall to the bloodstream, the test picks up that bacteria even though it doesnt indicate an infection. Still, she says, she expects it to continue to improve and the cost to come down. This type of test will be the future, she says. But were still in the early stage.

Kertesz says that the cost of DNA sequencing is rapidly dropping, and its own cost will continue to come down as it scales up, so this type of testing could become common even in routine cases. I see a future where genomics and technology like ours are completely displacing most, if not all, existing technologies, he says.

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Karius quickly tests blood for more than 1,400 pathogens - Fast Company

New executive talents join InformedDNA to help further its impact on the growth of genetics and genomics in mainstream medicine

InformedDNA, the nations largest independent provider of genetics services, today announced the addition of healthcare industry veterans to its executive leadership team and its board of directors. Paul Danao has joined the company as chief growth officer, responsible for driving revenue growth and retention through sales, marketing and client management. Dr. Jacqueline Kosecoff, a renowned healthcare industry expert, has joined InformedDNAs board as an independent director.

Founded in 2007, InformedDNA was the first company in the U.S. to use telephonic services to connect genetic counselors to patients. Since then, it has expanded to provide technology-led services to patients, healthcare providers, health systems, health plans, and life science organizations.

"While the healthcare industry is in the infancy of a genomics revolution, its crucial for health systems, payers and providers to determine now how to infuse the rapid pace of discoveries into the healthcare ecosystem," said David Nixon, chief executive officer at InformedDNA. "Jacqueline and Paul both have extensive executive leadership experience at major health plans and health systems. Each will no doubt make substantial contributions to InformedDNA, in their respective roles, as we help bring about a future in which genomics expertise will inform most healthcare decision-making, enabling true precision medicine to become a ubiquitous reality."

Dr. Kosecoff works in private equity to identify, select, mentor and manage health services and IT companies. She is managing partner at Moriah Partners, LLC, and senior advisor at Warburg Pincus. Previously, she served as a senior executive with UnitedHealth Group-PacifiCare where she was chief executive officer of OptumRx. Dr. Kosecoff was founder, president and chief operating officer of Protocare, and earlier, served as professor of Medicine and Public Health at the University of California, Los Angeles. She holds a B.A. from the University of California, Los Angeles, an M.S. in Applied Mathematics from Brown University, and a doctorate from the University of California, Los Angeles.

Said Dr. Kosecoff, "Having been involved with InformedDNA as an advisor for the last year, Ive seen first-hand how the company brings a rare depth of genomics expertise to the healthcare industry, leading it to experience more than 50 percent annual growth in each of the last two years. I look forward to my new director role and increased interaction with the companys leaders as we enable additional healthcare companies to better understand the genomics space. This will facilitate better genetics-related decisions that result in more personalized care, improved outcomes, and lower costs."

Danao will focus on aligning sales, marketing and client management activities to deliver consistent and high-value contact to accelerate customer acquisition and retention. Prior to joining InformedDNA, he held senior leadership roles at several healthcare technology and service companies, including BlueCross BlueShield Association, AIM Specialty Health, and Healthcare Payment Specialists. Danao holds a B.B.A. from the University of Michigan and a Master of Health Services Administration from the University of Michigan School of Public Health.

"This is a transformational time in the era of genetics-based medical care. InformedDNAs continued commitment to maintaining the highest level of genetics expertise and service excellence has already helped many leading U.S. healthcare organizations to decode the business of genetics," said Paul Danao, InformedDNAs new chief growth officer. "Its with much enthusiasm that I join such a talented team of professionals to lead the companys sales and marketing initiatives for services that guide healthcare providers clinical decisions, help shape clinical trial processes, and enable insurers to craft evidence-based coverage policies for genetic tests."

About InformedDNA

InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest, full-time staff of independent, board-certified genetics specialists in the U.S. to help ensure that health plans, hospitals, employers, clinicians and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support. For more information: http://www.InformedDNA.com

View source version on businesswire.com: https://www.businesswire.com/news/home/20200227005307/en/

Contacts

Julia Searcy, MERGE Atlanta for InformedDNA: jsearcy@mergeworld.com, 678.879.1929

See original here:
InformedDNA Recruits New Chief Growth Officer, Welcomes Industry Veteran to Board of Directors - Yahoo Finance

Those with diseases that arent fatal often spend years going from doctor to doctor getting different tests done to try and figure out whats going on, if there isnt a specialist available. It can be difficult for a doctor to diagnose a disease if they havent seen or heard of it before, which can lead to frustrated or discouraged patients.

Having a rare disease that makes you stand out, whether affecting your physical appearance or how youre able to interact with others, can be depressing. Living in the unknown about what it is that made that person different can add an emotional burden.

This is why in 2008, Rare Disease Day was established by EURODIS and is celebrated the last day of February every year. The goal is to raise awareness of rare diseases, connect those affected across the globe, inspire research and educate decision makers.

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Discovering disease mechanisms can lead to breakthroughs and novel treatment pathways, Oral says. Only 450 of 7,000 rare diseases have specific or certified therapies. We must recognize the importance of finding these treatments. She adds that understanding the mechanism for the disease may provide information that has implications for common chronic diseases as well, like diabetes.

Deep gene sequencing may also lead a researcher to making a discovery that opens an opportunity for drug repositioning or applying an available drug for treating a condition different from the original treatment purposes. And because most rare diseases are genetic, according to Oral, genetic testing is important for a family that may want to be aware of carrier status for current family members, as it may influence further family planning decisions.

For all of these reasons, Oral, together with the University of Michigan student-run organization Care About Rare and Najoua Elbourkadi, Ph.D., from Fast Forward Medical Innovation, organized a symposium dedicated to recognize rare diseases which took place February 21.

This is a hopeful time in the study of rare diseases. We have technology that can look at the differences in our genome very deeply, and also at tissues for the expression of those genes. Its quicker and at a much lower cost than before, Oral says. Were on the brink of a revolution.

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The Reality of Being Rare - Michigan Medicine

SUNNYVALE, Calif., and CAMBRIDGE, Mass., Feb. 28, 2020 /PRNewswire/ --CepheidandSherlock Biosciences today announced a research collaboration between the two companiesto explore the development of new cutting-edge molecular diagnostic tests. Leveraging Sherlock Biosciences' engineering biology platform, SHERLOCK,a CRISPR-based technology that can identify virtually any genetic target, new tests could be designed to run on Cepheid's GeneXpertSystems.The collaboration will focus on molecular diagnostic tests for infectious diseases and oncology, beginning with a proof-of-concept project focused on detection of coronavirus (SARS-CoV-2).

"This partnership will allow us to explore utilizing Cepheid's easy-to use-cartridge to further develop targeted molecular tests that better address outbreak scenarios," saidDavid H. Persing, M.D., Ph.D., Cepheid's Chief Medical and Technology Officer. "With a global installed base of over 23,000 GeneXpert Systems, this technology could potentially be applied in multiple settings where actionable treatment information is needed quickly."

The companies plan to jointly pursue grant opportunities to further push development of newer molecular diagnostic tests to allow future GeneXpertusers access to expandedtest menu and capabilities. The companies may pursue opportunities in infectious diseases and oncology, including exploring how better to address outbreak scenarios.

"SHERLOCK is an ideal platform for rapid response and development for any global outbreak, while also a powerful tool for affordable and rapid molecular diagnostic testing for routine assays," said Rahul Dhanda, Sherlock's Co-Founder, President and Chief Executive Officer. "We are excited to work on bringing our breakthrough CRISPR technology to Cepheid's revolutionary GeneXpert platform, which should enable our companies to provide potential diagnostic solutions for a range of applications including infectious diseases and oncology. Initially, we will explore the compatibility of our technologies for coronavirus detection, while pursuing a broad set of solutions that enable users to make more effective decisions in both clinical and non-clinical settings worldwide."

About GeneXpert Systems and Xpert TestsThe GeneXpert System's modular configuration makes it the most scalable molecular diagnostic system available, offering the ability to perform from one to eighty Xpert tests at the same time.The Xpert test menu spans healthcare-associated infections, sexual health, critical infectious disease, and oncology offering 28 tests outside the United States, and 20 tests in the United States.

About CepheidBased in Sunnyvale, Calif., Cepheid a leading molecular diagnostics company that is dedicated to improving healthcare by developing, manufacturing, and marketing accurate yet easy-to-use molecular systems and tests. By automating highly complex and time-consuming manual procedures, the company's solutions deliver a better way for institutions of any size to perform sophisticated genetic testing for organisms and genetic-based diseases. Through its strong molecular biology capabilities, the company is focusing on those applications where accurate, rapid, and actionable test results can impact patients most, such as managing infectious diseases and cancer. For more information, visithttp://www.cepheid.com.

About the SHERLOCK PlatformThe SHERLOCK platform enables the development of diagnostics that are better, faster and more affordable, which could diagnose virtually any disease rapidly, accurately, inexpensively and without the need of complex lab instruments, allowing for actionable results in virtually any setting.

SHERLOCK (SpecificHigh SensitivityEnzymaticReporter unlocking) platform is an evolution of CRISPR, a powerful technology used to make precise edits in genetic code. SHERLOCK leverages CRISPR-Cas12 and Cas13 to detect the unique genetic fingerprints of virtually any DNA or RNA sequence in any organism or pathogen.

Developed by company co-founders and licensed exclusively from the Broad Institute, SHERLOCK is a method for single molecule detection of nucleic acid targets.By programming a CRISPR molecule to detect the presence of a specific genetic signature in a sample or amplified target, SHERLOCK enables single molecule detection with high accuracy. When it finds those signatures, the CRISPR enzyme is activated and releases a robust signal. This signal can be adapted to work on a simple paper strip test, in laboratory equipment, or to provide an electrochemical readout that can be read with a mobile phone.

About Sherlock BiosciencesSherlock Biosciences is dedicated to making molecular diagnostics better, faster and more affordable through Engineering Biology platforms. The company is developing applications of SHERLOCK, a CRISPR-based method to detect and quantify specific genetic sequences, and INSPECTR, a Synthetic Biology-based molecular diagnostics platform that is instrument-free. SHERLOCK and INSPECTR can be used in virtually any setting without complex instrumentation, opening up a wide range of potential applications in areas including precision oncology, infection identification, food safety, at-home tests and disease detection in the field. For more information visitSherlock.bio.

For Cepheid Media Inquiries: Darwa Petersondarwa.peterson@cepheid.com

For Sherlock Biosciences Media Inquiries: dan@1abmedia.com

View original content:http://www.prnewswire.com/news-releases/cepheid-and-sherlock-biosciences-establish-collaboration-on-new-genexpert-tests-for-infectious-diseases-and-oncology-leveraging-crispr-technology-301013198.html

SOURCE Cepheid

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Cepheid and Sherlock Biosciences Establish Collaboration on New GeneXpert Tests for Infectious Diseases and Oncology Leveraging CRISPR Technology -...

Anthropologist Rayna Rapp will discuss the growth of genetic testing in reproduction in a public lecture, Wed., March 25, 5:30 p.m. in NYUs Jurow Lecture Hall, Silver Center for Arts and Science, 100 Washington Square East (enter at 32 Waverly Place or 31 Washington Place [wheelchair accessible]).

Banking on DNA: Gendering the Ever-Expanding Horizon of Prenatal Genetic Testing and Reproductive Technology, a Bentson Deans Lecture, is free and open to the public.

How are we to make sense of the increase in testing in reproduction? Rapp will consider the rapidly escalating role of genetic testing in reproduction and will highlight the benefits and burdens of intensified testing in family-making and their gendered implications. The knowledge and pressure to use such tests has resulted in growing social and cultural awareness of disability rights, robust commercial investments in genome-based technologies, and the turn to big data in health research.

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The Implications of the Growing Role of Genetic TestingLecture by Anthropologist Rayna Rapp, March 25 - NYU News

Newark, NJ, Feb. 25, 2020 (GLOBE NEWSWIRE) -- As per the report published by Fior Markets, theglobal genetic testing services market is expected to grow from USD 34.5 Billion in 2017 to USD 67.1 Billion by 2025 at a CAGR of 8.72% during the forecast period 2018-2025. Rising prevalence of genetic diseases, awareness among population, growing adoption of genetic testing services, and demand of genetic testing in developed countries, growing demand for personalized medicine, growing government initiatives and increased R&D activities in the genetic testing market are the factors that is driving genetic testing services market.

Genetic testing is used in the analysis of the changes in chromosomes, proteins, or genes caused by any suspected genetic condition or disease. It is also used in the diagnosis of cancer and plan the treatment. Several genetic tests are used such as new-born screening, prenatal testing, pre-implantation testing, carrier testing, etc. Numerous methods such as chromosomal method, molecular method and biochemical method are used for genetic testing. It is performed for the identification of risk factors, to screen the new-borns, and also in forensics. According to the report by WHO, sickle cell anaemia is one of the most common genetic disorders among people whose ancestors come from Sub-Saharan Africa, South America, Cuba, Central America, Saudi Arabia, India, and Mediterranean countries. Genetic tests in combination with other genomic technologies predict risk of an individual to a disease and also increase the opportunities for players in pharmaceutical industry to grow. For instance, and provides genetic makeup tests to the consumers. Company also recommends genetic counsellors based on results to help the consumers about the better testing of genes, and the inherited diseases.

Advancements in genetic testing technologies, rising cases of genetic diseases and growing awareness are driving the testing market. In addition, emerging markets hold great potential for growth of due to growing awareness and increase in patients in these regions. High cost and lack of experienced professionals are some of the factors restraining the growth of the market. However, Shift from clinical science to bioinformatics is also leading to high rate of adoption of genetic testing technology, which in turn is augmenting the growth of the market in coming years.

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Key players operating in the global genetic testing services market include Laboratory Corporation of America Holdings, Genomic Health, Inc., NeoGenomics Laboratories, Inc., Quest Diagnostics, Eurofins Scientific, Ambry Genetics, Hoffmann-La Roche Ltd, Illumina, Inc., CENTOGENE AG, 23andMe, Sequenom, GeneDx, Abbott, Cepheid Inc., ELITech Group, Verinata Health, Inc and others. Top players of the market are making efforts in R&D to increase their footprint in the market.

The predictive & presymptomatic testing is dominating the segment and was valued around USD 12.17 billion in 2017

The test type segment includes prenatal testing, newborn screening, predictive and presymptomatic testing, pharmacogenomic testing. The predictive & presymptomatic testing is dominating the segment and was valued around USD 12.17 billion in 2017. Detection of diseases at early stage minimizes the severity of diseases leading to reduced mortality rate. Increasing prevalence of chronic diseases around the world is expected to augment the segment growth over the forecast period.

The oncology segment dominated the application segment and is expected to register the highest CAGR of 10.07% in the forecast period

The application segment is divided into segments such as oncology, infectious diseases and autoimmune diseases. The oncology segment dominated the application segment and is expected to register the highest CAGR of 10.07% in the forecast period. Timely diagnosis save lives and reduce the number of deaths. According to, The Institute for Health Metrics and Evaluation (IHME), around 8.9 million cancer deaths were recorded in 2016 caused by inheriting genetic mutation. Rising prevalence of various types of cancer such as prostate cancer, breast cancer and lung cancer coupled with increasing awareness pertaining to early detection of cancer are expected to stimulate the growth of the market.

The hospital-based laboratories segment is dominating the genetic testing services market and held the largest market share of 38.21% in 2017

The service provider segment is classified into hospital-based laboratories, diagnostic laboratories and specialty clinics. The hospital-based laboratories segment is dominating the genetic testing services market and held the largest market share of 38.21% in 2017. Advanced infrastructure and increasing number of hospitals in developing economies are driving the growth of the market.

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Regional Segment Analysis of the Genetic Testing Services Market

The regions analysed for the market include North America, Europe, South America, Asia Pacific, and Middle East and Africa. North America region dominated the global genetic testing services market with the largest share and was valued around USD 15.180 Billion in 2017 where as Asia Pacific region is the fastest growing region in the market. North America region is dominating the market due to developed infrastructure, increase in health care investments and presence of large number of academic and research institutes are key factors leading to the growth of the market. Asia Pacific is anticipated to register highest growth in the forecast period. Increase in the prevalence of infectious disease, increasing awareness about the advantages of predictive testing, and rise in the adoption of advanced technology for clinical applications are some of the major factors offering growth opportunities to the genetic testing services market.

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The global genetic testing services market is analysed on the basis of value (USD Billion). All the segments have been analyzed on global, regional and country basis. The study includes the analysis of more than 30 countries for each segment. The report offers in-depth analysis of driving factors, opportunities, restraints, and challenges for gaining the key insight of the market. The study includes porters five forces model, attractiveness analysis, raw material analysis, supply, demand analysis, competitor position grid analysis, distribution and marketing channels analysis.

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Global Genetic Testing Services Market is Expected to Reach USD 67.1 Billion by 2025 : Fior Markets - GlobeNewswire

The direct-to-consumer (DTC) genetic testing market is expected to witness significant growth in the future on the back of rising awareness among patients to go for early diagnosis and obtain in-time treatment.

This press release was orginally distributed by SBWire

San Francisco, CA -- (SBWIRE) -- 02/26/2020 -- Direct-to-Consumer (DTC) Genetic Testing Market Introduction

Direct-to-consumer (DTC) genetic testing refers to genetic testing that provides people with their genetic information wherein involvement of healthcare professional or Health Insurance Company is not necessary. While a number of companies are offering the direct-to-consumer (DTC) genetic testing, it is spreading awareness regarding genetic diseases that can be prevented in time. Direct-to-consumer (DTC) genetic testing also offers personalized information about overall health, potential disease risks and other genetic traits.

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The direct-to-consumer (DTC) genetic testing market is expected to witness significant growth in the future on the back of rising awareness among patients to go for early diagnosis and obtain in-time treatment. As the prevalence of genetic diseases and rare disorders is increasing across the globe, application of direct-to-consumer (DTC) genetic testing is expected to rise significantly in the coming years.

Direct-to-Consumer (DTC) Genetic Testing Market Notable Developments

In March 2018, 23andMe, Inc. received FDA approval for marketing of the company's genetic test to be used in the screening of BRCA1/BRCA2 breast cancer gene mutations. This is the very first direct-to-consumer (DTC) genetic testing for cancer.In November 2018, Berry Genomics partnered with Prenetics, a Hong Kong-based biotechnology company. The partnership is aimed at offering a range of direct-to-consumer (DTC) genetic testing services in the Chinese market.In January 2019, Nebula Genomics, a start-up genetics company announced that the company will offer free whole genome sequencing for consumers who are willing to contribute their genomic data for the use of drug development studies. This is expected to bring new avenues in the direct-to-consumer (DTC) genetic testing market with leaders in clinical laboratories as well as anatomic pathologists are planning to offer the same service to advance the field of pharma drug development and treatment.Some of the most prominent competitors operating in the competitive landscape of global direct-to-consumer (DTC) genetic testing market include

AncestryEasyDNA23andMeFull GenomesFamily Tree DNALiving DNAGenesis HealthCareHelixColorIdentigeneMyHeritageKarmagenesMapMyGenomePathway Genomics

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Direct-to-Consumer (DTC) Genetic Testing Market Dynamics

Opportunities for Manufacturers as FDA Relieves Regulatory Hurdles

In June 2018, the U.S. FDA relieved some of the regulatory hurdles for manufacturers of the direct-to-consumer (DTC) genetic testing for health risk. As per the new regulatory updates, manufacturers, after receiving the first premarket approval for genetic health risk (GHR) test can commercialize the test without the requirement of additional review. GHR tests provide consumers with genetic risk information to consumers, however, it does not determine whether the person is at risk of developing a disease or a condition. While the regulatory process remains equally stringent, the FDA has warned against the use of multiple genetic tests with unapproved claims to predict patient response to a specific set of medications.

Prenatal and Newborn Direct-to-Consumer (DTC) Genetic Testing Demand On the Rise, Reliability Remains a Grey Area

Over the period of the last decade, individuals could easily purchase direct-to-consumer (DTC) genetic testing over online transactions to carry out prenatal and newborn genetic testing without the intervention of health professionals. However, companies that offer such tests lack a comprehensive standard data to which the testing results are compared. While the number of companies offering the direct-to-consumer (DTC) genetic testing for newborn screening is increasing, the reliability of their tests remains a grey area owing to the lack of supervision about test content, interpretation and accuracy.

Integration of Artificial Intelligence to Add Value in DTC Genetic Testing

Direct-to-consumer (DTC) genetic testing holds significant importance in the field of personalized medicine. Health data of an individual derived from direct-to-consumer (DTC) genetic testing in the form of genetic sequencing can be linked with other health indications to gain an overall health outlook. Towards this, many direct-to-consumer (DTC) genetic testing companies are engaged in collaborating with pharma companies. Also, with the integration of artificial intelligence (AI) in the medical diagnostic technologies such as direct-to-consumer (DTC) genetic testing, the derived genetic sequencing data becomes more valuable.

Direct-to-Consumer (DTC) Genetic Testing Market Segmentation

Direct-to-consumer (DTC) genetic testing market is segmented on the basis of type, application and technology.

Based on type, the Direct-to-consumer (DTC) genetic testing market is segmented into,

Diagnostic ScreeningPrenatal, newborn screening, pre-implantation diagnosisCarrier TestingNutrigenomics TestingRelationship Testing

Based on application, the Direct-to-consumer (DTC) genetic testing market is segmented into,

Direct salesLaboratory salesRetail sales

Based on technology, the Direct-to-consumer (DTC) genetic testing market is segmented into,

Single Nucleotide Polymorphism (SNP) ChipsTargeted AnalysisWhole Genome Sequencing (WGS)

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Direct-to-Consumer (DTC) Genetic Testing Market Latest Trends and Future Growth Study by 2028 : Ancestry, EasyDNA, 23andMe - Press Release - Digital...

By Express News Service

THIRUVANANTHAPURAM:Expanding its scope in diagnosis domain, the Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), has established a Molecular Genetics and Neuroimmunology Unit (MGNU) for genetic testing of selected cardiac and neurological inherited diseases. SCTIMST president V K Saraswath inaugurated the facility on Wednesday.

According to a senior SCTIMST official, the new facility would help test multi-gene panels for diseases such as neuromuscular diseases, movement disorders like Parkinsons disease, neuro-developmental disorders, epilepsy syndromes, inherited metabolic diseases, and for identification of bacteria from body fluids.As per institute release the diagnostic facility will open new avenues for extensive research in genomics and collaborative research work within and outside the country. The facility will also examine gene mutation that cause specific diseases.

The release said that MGNU will also help overcome the cost and speed limitations associated with sequencing benefitting clinicians and patients alike. The long-term plan of MGNU is to establish a robust bioinformatics platform to provide support for disease diagnosis and management, molecular characterization of diseases for personalized treatment, population screening for disease risk, pharmacogenomics (study of how genes affect a persons response to drugs), identification of novel genetic biomarkers and genetic counselling. SCTIMST, an institute that comes under the Department of Science and Technology, is o an advanced referral centre for neurological and cardiovascular diseases. The patients are referred to the centre not only from Kerala but also from neighbouring states for the management of genetic diseases.

Long-term planThe long-term plan of MGNU is to establish a robust bioinformatics platform to provide support for disease diagnosis and management.

Read more:
Sree Chitra to examine gene mutation and carry out gene testing - The New Indian Express

Dr. Gaylis is chief scientific officer of Genesis Healthcare Partners and voluntary professor of urology, University of California, San Diego. Dr. Kader is professor of urology at Moores Cancer Center, University of California, San Diego.Disclosures: Dr. Gaylis is a scientific board advisor at, and Dr. Kader is the founder of, Stratify Genomics.

Urology Times presents opinions, advice, and news from urologists and other urology professionals. Opinions expressed here are the authors' own, and do not necessarily reflect the views of Urology Times or its parent company, MJH Life Sciences.

Prostate cancer (PCa) is the most common solid organ malignancy affecting American men and the second leading cause of death from cancer. Since the introduction of the PSA blood test in the early 1990s, there has been a progressive decrease in the stage and grade of PCa at diagnosis as well as a dramatic decline in PCa death rates. However, due to the variable natural history of PCa and the PSA tests poor specificity, universal PSA-based screening has also led to increased cost and suffering in many men who will never be affected by PCa.

This controversy has led to confusion and varying recommendations, ultimately resulting in a decrease in PSA-based screening. Coinciding with this decrease in screening, a recent report from the American Cancer Society indicates, for the first time in 30 years, a halt in the decline in presentation of metastatic disease and PCa mortality.1

Citing two controversial papers in 2012 suggesting that there is minimal survival benefit to PSA-based screening average risk men, the U.S. Preventive Services Task Force (USPSTF) considered that PSA-based screening harms many (side effects include anxiety from screening, infection and bleeding from prostate biopsy, and urinary incontinence and sexual dysfunction from treatment) and benefits few (men saved through early detection). The USPSTF recommended that no man should be screened for PCa.

This stance was adopted by the American Academy of Family Physicians, among others, and what followed was an indiscriminate cessation of screening in most men, and with that, the dramatic decline in new PCa diagnoses by almost 60,000 cases.

Subsequent to the Task Forces recommendation in 2012, several research groups including ours published disturbing trends of more men presenting with more aggressive and advanced PCa.2,3 We now see for the first time a changing course in the death rate from the disease. We are entering a dangerous era. Should we go back to the days before PSA-based screening, the increase in death and suffering will not be felt for another decadeat which point it might be too late for a generation of men.

Due to a backlash stemming from these reports and an acknowledgement of the flaws in the original screening studies, the USPSTF in 2018 amended its recommendation slightly to suggest that a conversation be held between physician and patient (between the ages of 55 and 69 years) about the risks and benefits of PSA-based screening with no allowance for risk factors (family history or race).

Rather than forgoing screening in everyone, we suggest a risk-stratified approach whereby our screening efforts are focused on those men who stand to gain the most and be harmed the least. Men expected to live beyond 10 years who have a family history of PCa, are of African-American race, and/or have a genetic predisposition to the disease should be offered screening at an earlier age (mid-40s) and more aggressive screening (yearly). Average- and low- risk men (based on genetic testing) should be counseled regarding the risks and benefits of screening (called shared decision-making) and allowed to make an informed decision regarding screening at longer intervals (possibly every 3-7 years).

Furthermore, to avoid overtreatment of indolent PCa, men diagnosed with low-risk disease should consider active surveillance (close monitoring with intent to treat and cure if the disease worsens).

Genetic predisposition to PCa is based on newly discovered germline genetic (inherited DNA) abnormalities, which have been associated with the development of PCa and sometimes aggressive disease. The latter may develop as a result of mutations of the breast cancer DNA damage repair genes (BRCA1 and BRCA2). In addition, abnormalities in other components of the DNA called single nucleotide polymorphisms (SNPs) are associated with the development of PCa.

Tests for specific SNPs have recently become commercially available to predict a mans lifetime risk of developing PCa. A San Diego startup, Stratify Genomics, recently launched Prompt - prostate genetic score (PGS), one of the first germline SNP tests based on a cheek swab. Studies of Prompt-PGS have shown promising results, with data showing it being two times more predictive than PSA and three times more predictive than a positive family history in determining the risk of a man developing PCa.4,5 Additional new tests either currently available or in testing include urinary exosomes (which contain DNA), liquid biopsies (blood and urine tests designed to detect the presence of PCa), and other biomarkers looking at cancer-associated cell changes in urine.

The recently reported change in PCa death rates should prompt men to undergo genetic testing and have a discussion with their doctor regarding the benefits and potential harms of PSA-based screening based on their individualized risk of developing the disease. Together with race and family history, this new genetic information can help men and their physicians make an informed decision regarding screening and hopefully reverse this disturbing trend in PCa death rates.

References

Original post:
An end to the decline in prostate cancer mortality - Urology Times

Epigenetic clocks are a new type of biological test currently capturing the attention of the scientific community, private companies and governmental agencies because of their potential to reveal an individuals true age.

Over the past two years, companies such as Chronomics and MyDNage have started to sell epigenetic age tests to the public online, and the life insurance company YouSurance has announced that it would be testing the epigenetic age of their policy holders to assign them to risk groups. Forensic scientists are also contemplating how epigenetic clocks could help determine the age of suspected criminals.

Recently, the Kobor Lab developed the first pediatric epigenetic clock designed specifically for testing the age of young people, with an eye towards its applications in research and medical settings. This test uses a small sample of cells collected cheaply and easily from a cheek swab, and can predict a childs age with a degree of precision within approximately four months.

But pediatric epigenetic clocks are likely to have non-medical applications as well. They could soon be used in immigration cases to prove the age of undocumented migrants seeking asylum as minors. Other future uses can be imagined, such as for child labour and trafficking surveillance, or even for the identification of child combatants in armed conflicts.

As researchers in bioethics, sociology and medical genetics, we are interested in the potential benefits and risks of this fascinating yet controversial new technology for individuals and society.

Epigenetic clocks emerge from the field of epigenetics, which examines how chemical marks can regulate gene expression and help us understand how aging and disease processes work. Epigenetics is the study of small molecules that bind to DNA or to the proteins DNA wraps around, changing how genes are read. These small molecules dont change the linear sequence of the DNA, but they can turn genes on or off by opening or closing the 3D structure of DNA.

If we think of genes as light bulbs, epigenetic marks can nudge the dimmer switch up or down, but they cant change the colour of the light. Some epigenetic marks can change in response to a persons environment or lifestyle. Epigenetic tests may provide information about individuals that a genetic test alone cant reveal such as exposures to trauma, stress, diet or pollutants.

Other epigenetic marks change in a very constant fashion as a person develops, grows and ages. These marks have enabled the development of different epigenetic age tests. Also known as epigenetic clocks, these tests are poised to be the first epigenetic tests ready for use.

However, most epigenetic tests have not yet been scientifically validated to confirm their precision and accuracy in different sub-groups of the population, and the ethical, legal and social implications of their use are not well understood.

Like genetic tests, epigenetic tests may eventually be used in law enforcement and immigration settings, as well as in research and medical contexts. The lessons learned from DNA testing highlight the need for caution and responsible implementation.

Genetic research and testing now have many uses beyond detecting disease risks and tracing ancestry. DNA tests are common tools in police investigations to identify suspects and victims of crimes, and they are increasingly used by immigration agencies to prove genetic relationships in family reunification efforts.

In 2018, the identification of the suspected Golden State Killer made it clear that biological information shared with companies such as 23andMe and Ancestry.com through direct-to-consumer tests could be mined by law enforcement agencies. This case raised public and legal concerns about the privacy of genetic information, and the uses of DNA stored by private companies and in government databases.

Due to the capacity of epigenetic tests to expose sensitive information about an individuals developing environment, social conditions and life choices, the implementation of tests like the pediatric clock requires close attention to issues related to privacy, surveillance and basic human rights.

In an era of rising xenophobic and protectionist immigration policies across the globe, the benefits of gaining biological data should be critically considered against the risks to basic human rights inherent in the process of collecting another layer of information from a vulnerable population.

When genetic testing was proposed as a solution for family reunification for the thousands of children separated from their parents by US Immigration and Customs Enforcement raids and deportations, ethicists and advocacy groups raised significant issues, including the lack of informed consent and concerns about the long-term storage of DNA in either private databases or those previously used only for those accused of crimes.

The use of genetic tests to prove the biological relationship between family members seeking to reunite in a country has also been criticised for being ethically problematic for children in non-genetic families, and having potentially devastating consequences for members of genetic families if DNA test errors occur. These situations could impede the reunification of children with their primary caregivers.

Problems may also arise if epigenetic clocks are used in immigration cases before we fully understand and address their ethical, legal and social consequences. For example, migrants who are minors may have been exposed to highly stressful experiences, malnutrition or medical conditions. Such exposures can affect the results of epigenetic clock tests which were developed based on the DNA of healthy children in developed countries. This makes their use in efforts to identify biological age problematic for both technical and ethical reasons.

To date, there have been attempts but no official report of any police force or immigration agency successfully using an epigenetic clock test in solving a challenging criminal case or asylum claim. However, it has come to our attention that researchers have been approached by governmental agencies interested in using the pediatric epigenetic clock in particular, and by migrants searching for ways to prove the age of their undocumented children in order to be granted access to legal privileges reserved only for minors.

The promises of epigenetics that circulate widely in public discourse include the potential to control ones genetic predisposition such as disease risk through lifestyle choices. With this type of attention, individuals in the general public may in fact be among the first interested in using these tests. Consumers gaining access to epigenetic tests online, and those seeking to use them to inform legal and policy decisions, should be aware of their current scientific limitations, as well as of rising privacy and non-discrimination concerns.

Standards of practice, ethical guidelines and regulations are critically needed to ensure the responsible use of epigenetic tests. Most urgently, there is a need to protect children and their caregivers from premature or socially inadmissible uses of pediatric epigenetic clock tests to ensure their promises are realised with their best interest in mind.

Charles Dupras, Postdoctoral Fellow, Center of Genomics and Policy, McGill University. Martine Lapp, Assistant Professor of Sociology and Science, Technology, and Society, California Polytechnic State University. Michael S Kobor, Canada Research Chair in Social Epigenetics and Professor, UBC Department of Medical Genetics, University of British Columbia.

This article first appeared on The Conversation.

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Why we should be wary of epigenetics, the science that reveals our true age - Scroll.in

If you have a rare disease, you may be the only person in Australia with that condition.

You may not know, however, that being diagnosed with a rare disease means you are part of a community of up to two million Australians with one of these conditions. And more than 300 million people globally.

Read more: When you're sick, the support you'll get may depend on the 'worth' of your disease

Today, health minister Greg Hunt announced Australia will have its first National Strategic Action Plan for rare diseases.

This action plan will harness the power of rare disease advocates, patients and families, clinicians, researchers, peak bodies, industry and government to improve care for people with rare diseases.

A rare disease is one that is very uncommon. The most widely accepted definition stipulates a rare disease affects fewer than five in 10,000 people.

Rare diseases are serious, complex, usually chronic, often life-limiting and most have no cure.

We know of about 7,000 different rare diseases, most with a genetic origin. Many begin in childhood.

Rare diseases are often progressive they get worse over time and can be associated with physical or intellectual disability.

Examples of rare diseases are uncommon childhood cancers such as hepatoblastoma (a cancer of the liver), and other better-known conditions like cystic fibrosis and phenylketonuria (a birth defect that causes an amino acid called phenylalanine to build up in the body, and untreated can lead to intellectual disability, seizures and behavioural problems). Both are symptomatic from birth. Huntingtons disease is another, but only shows symptoms in adulthood, even though its inherited.

Read more: Explainer: what is cystic fibrosis and how is it treated?

For a person living with a rare disease, and the people around them, the journey to obtaining a diagnosis and receiving treatment can be difficult, complex, worrying, confusing and isolating.

Rare diseases are difficult to diagnose because individually they occur so infrequently, and symptoms can be very complex. My research and another Australian study show it can take years to get the final correct diagnosis. Most health professionals have never diagnosed or cared for a person with osteogenesis imperfecta, Fabry disease or any other of the 7,000 rare diseases.

Added to this, the onset of symptoms for a rare disease can occur anywhere between birth and adulthood, and diagnostic tests are lacking or difficult to access.

But diagnosis is only part of the puzzle. People with rare diseases typically need complex care from large teams of health professionals because with many rare diseases, several body systems are affected. Also, given the often-progressive nature of the condition, care needs can change sometimes dramatically over time.

Important questions also arise around life expectancy and what the risks would be if the person with a rare disease was to start a family. Would their children inherit the disease? Genetic counsellors can help with these sorts of questions.

Read more: No matter how you fund it, medical research is a good investment

Further, care is costly to families and to the health system. The cost of providing hospital care to just one child with a rare lung disorder who eventually needed a lung transplant amounted to almost A$1 million before the childs ninth birthday.

The market for drugs for rare diseases, often called orphan drugs, is small. Although governments incentivise the pharmaceutical industry to develop orphan drugs, there are no effective drug treatments for most rare diseases.

In recognition that rare cancers and rare diseases traditionally lose out to more common diseases in terms of research, additional targeted funding has recently been allocated to boost research in Australia. In 2019 the NHMRC and the Medical Research Future Fund pledged A$15 million over five years for rare cancers, rare diseases and unmet need.

While a positive step, we are still lagging behind other countries. The United States, for example, spent US$3.5 billion (A$5.3 billion) on rare disease research in 2011.

The action plan recognises people with a rare disease and their right to equitable access to health and support services, timely and accurate diagnosis and the best available treatments. It aims to increase rare disease awareness and education, enhance care and support, and drive research and data collection.

Its roll out should lead to better outcomes for people with rare diseases and less worry and frustration for families. For example, access to care coordinators or care navigators could help guide people and families through our often-fragmented health, disability and social care systems.

Read more: Personalised medicine has obvious benefits but has anyone thought about the issues?

Recent advances in personalised medicine, where a persons specific genomic make-up could be used to tailor specific medicines for that persons particular disease, holds much promise for people with rare diseases in the future.

Genetic testing for critically ill babies and children is already resulting in faster diagnosis and treatment of rare diseases.

The action plan aims to build on and support the sustainability of these important developments.

If you or a family member has a rare disease, and youd like more information, the Rare Voices Australia website is a good place to start.

Nicole Millis, CEO of Rare Voices Australia, co-authored this article.

The rest is here:
What is a rare disease? It's not as simple as it sounds - The Conversation AU

(KSDK) This holiday season was a hot one for at-home genome testing.

Providers like 23andMe and Ancestry.com promoted their heritage and health testing services as a gift for families who want to learn about their genetic makeup.

It might look like the gift that keeps on giving, with new relatives and health findings popping up all the time, but warn that customers may be giving away something theyll never get back.

The history of your DNA doesnt end when you send it in. It might just be the start of the journey your data can take from testing provider to healthcare companies or the police.

While direct-to-consumer genetic testing providers generally have privacy policies to tell customers how their data will be stored and shared, genetic code is sensitive information on a whole new level.

It can connect you to your relatives, predict your risk of disease and even help identify suspects in criminal investigations all over your family tree.

Read more:http://bit.ly/39Z45wZ

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Your DNA test could end up in the hands of healthcare companies or police - WREX-TV

Companies such as 23andMe have proliferated over the past decade, feeding peoples hunger to know who and where they come from, and what diseases their genes might predispose them to. Over that time, it has gradually become clear that the main source of revenue for at least some of these companies comes from selling the data on to third parties.

DTC companies are far from the only ones collecting sensitive data about you. National health systems, health insurers and, increasingly, social media providers are too. Its already being used in research designed to improve our health and wellbeing, and there is a legitimate question to be asked about compensation. 23andMe, for example, asks its customers to waive all claims to a share of the profits arising from such research. But given those profits could be substantial asevidencedby the interest of big pharma shouldnt the company be paying us for our data, rather than charging us to be tested?

These are the privacy concerns that may be behind layoffs, not only at 23andMe, but also atother DTC companies, and that we need to resolve urgently to avoid the pitfalls of genetic testing while realising its undoubted promise.

Read the original post

Read more:
DNA testing companies are making money off your genetic data. Should they be paying you? - Genetic Literacy Project

For Immediate Release: February 20, 2020 Statement From:

Statement Author

Leadership Role

Director - CDRH Offices: Office of the Center Director

Leadership Role

Director - Center for Drug Evaluation and Research

Pharmacogenetic testing is a type of genetic test that in some instances can predict how a person will respond to specific medications. Thus, this type of testing offers promise for informing the selection or dosing of some medications for certain individuals. When there is sufficient scientific evidence demonstrating a relationship between how a persons genes may impact their metabolism of a drug or how they may respond to the drug, this information can be useful for health care providers. However, for many medications, there is not sufficient scientific evidence to support using pharmacogenetic test results to inform prescribing decisions.

In a 2018 safety communication, we warned the public about the FDAs concerns with firms offering genetic tests making claims about how to use the genetic test results to manage medication treatment that are not supported by recommendations in the FDA-approved drug labeling or other scientific evidence. Clinicians order tests to help them and their patients make better informed decisions. Such decisions, however, should be based on solid and reliable science. Decisions based on inaccurate information can result in patient harm because patients may not receive the most appropriate medication, may receive a medication that could be harmful or may receive a prescription for an inappropriate dose. All of these scenarios can create unnecessary delays and prevent patients from receiving the most timely and appropriate treatment. Patients and clinicians deserve better. Unfortunately, in the time since our safety communication was issued, some manufacturers of pharmacogenetic tests with claims not adequately supported by sound science have continued marketing their tests, including some for medications to treat seizures, mental illness and pain, including opioids. The FDA remains concerned with the safe use of these medications based on pharmacogenetic test reports that are not supported by sound science.

Many pharmacogenetic tests are being offered as laboratory developed tests (LDTs). For many years, FDA has, in an exercise of enforcement discretion, generally not enforced applicable regulatory requirements for LDTs, such as premarket review. The FDA developed its existing approach to LDT enforcement decades ago, when the field of LDTs was much different, and often relied on simpler technologies in local settings. While the landscape of LDTs has changed, the agencys oversight framework has remained the same. The FDA is committed to continuing to work with Congress on a broader legislative solution to the oversight of in vitro clinical tests generally (including LDTs), which would modernize our regulation of these tests. In the meantime, the FDA should not and cannot stand idly by when safety issues arise. Consistent with our mission to protect and promote public health, we believe it is important to take steps now to help ensure that claims being made for pharmacogenetic tests offered today are grounded in sound science to avoid inappropriate management of patients medicationsand to do so through approaches that both protect patients and advance the development of analytically and clinically validated pharmacogenetic tests. Indeed, genetic testing can enhance patient management by improving the selection of medications or the dosage of a medication, tailoring the therapy to the patientbut only when it is based on sound science.

Thats why today we are introducing a collaboration between the FDAs Center for Devices and Radiological Health and Center for Drug Evaluation and Research intended to provide the agencys view of the state of the current science in pharmacogenetics. Our new web-based resource includes a table that describes some of the gene-drug interactions for which we believe there is sufficient scientific evidence to support the described associations between certain genetic variants, or genetic variant-inferred phenotypes, and altered drug metabolism, and in certain cases, differential therapeutic effects, including differences in risks of adverse events.

The table posted today includes certain established gene-drug interactions that appear in FDA-approved drug labeling. Recognizing, however, that not all supported gene-drug interactions may be found in current FDA labeling, the table also includes some additional gene-drug interactions that are consistent with the current FDA labeling and for which there is sufficient scientific evidence based on published literature. This literature-based scientific evidence is often used in support of the recommendations found in professional guidelines used by clinicians.

The table is not complete, but we felt it is important to provide clinicians, patients and test developers with information now while we continue to review the scientific evidence, including the scientific evidence underlying various professional guidelines, such as those of the Clinical Pharmacogenetics Implementation Consortium. We anticipate updating this web-based resource periodically as the evidence evolves. Further, weve opened a docket for public comment and encourage all stakeholders to provide their feedback on specific pharmacogenetic associations that should or should not be included as the agency continues to update this table. Feedback should include supporting rationale and underlying evidence that supports the pharmacogenetic association. These data will be evaluated as we consider updates to the table.

We are also exploring additional approaches for evaluating the evidence underlying gene-drug associations, such as participation in a community-based collaborative approach to the ongoing evaluation of the evolving science, as part of our commitment to continue engaging with health care professional, guideline setting, patient and test developer groups.

We will continue to communicate about the promise and potential of pharmacogenetic testing, and about when we have concerns regarding claims that are not supported by sufficient scientific evidence. We are committed to engaging with stakeholders as we work to protect patients while fostering the development of new and innovative diagnostics.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nations food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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FDA Announces Collaborative Review of Scientific Evidence to Support Associations Between Genetic Information and Specific Medications - FDA.gov

What happened

Shares of Invitae (NYSE:NVTA) fell as much as 15.5% today after the company reported fourth-quarter and full-year 2019 operating results. The genetic testing company delivered impressive growth in 2019 compared to the prior year, including year-over-year increases of 47% in revenue and 59% in test volumes.

Despite the solid results, Wall Street analysts were expecting $68.1 million in fourth-quarter 2019 revenue. Invitae reported "only" $66.3 million. While the difference was insignificant in the grand scheme of things, it doesn't take much to derail a volatile growth stock.

As of 1:49 p.m. EST, shares had settled to a 11.2% loss.

Image source: Getty Images.

On the one hand, the harsh reaction to the miss on fourth-quarter revenue is certainly an overreaction. Invitae performed well in 2019 and made important strides to expand its business. It launched new tests, formed new partnerships, and joined major health insurance networks.

On the other hand, the genetic testing company reported an operating loss of $244 million in 2019. Investors have accepted steep losses as the price of owning a high-growth company, but the losses are unsustainable.

Metric

2019

2018

Change

Test volume

482,000

303,000

59%

Revenue

$216.7 million

$147.7 million

47%

Gross profit

$98.7 million

$67.6 million

46%

Operating income

($244.1 million)

($122.5 million)

N/A

Cash flow from operating activities

($145.0 million)

($92.2 million)

N/A

Data source: Company press release.

Investors can only hope that a high rate of growth eventually translates into operating profits. For 2020, Invitae expects to achieve more than $330 million in revenue and process at least 725,000 tests, representing year-over-year increases of over 50% for each metric. That should help to create a path to profitability, assuming operating expenses can be held in check. But for the foreseeable future, investors should expect the stock to remain volatile.

Read the rest here:
Here's Why Invitae Stock Is Tumbling Today - Motley Fool