Archive for the ‘Genetic Testing’ Category

A new Defense Department memo warns that direct-to-consumer (DTC) genetic testing "could expose personal and genetic information, and potentially create unintended security consequences and increase risk to the joint force and mission." The memo adds that "there is increased concern in the scientific community that outside parties are exploiting the use of genetic data for questionable purposes, including mass surveillance and the ability to track individuals without their authorization or awareness. Until notified otherwise, [Department of Defense] military personnel are advised to refrain from the purchase and/or use of DTC genetic services."

Way too late.

Some 26 million Americans have already used DTC genetic testing services to gain insights into their health risks and ancestry. By one estimate, it was possible in 2018 to use these DTC databases to personally identify 140 million Americans of European descent using genetic information uploaded by themselves and their relatives. It is projected that as many as 100 million Americans will have used such genetic testing services in the next two years. At that point, almost any American could be identified by matching their DNA to that of their relatives in online databases. In other words, we users of genetic testing services have been voluntarily creating "a de facto national DNA database." To use the hoary, but apt cliche: The Pentagon is closing the barn door well after the horses have stampeded out.

Given how pervasive and much more easily deployed facial recognition technology is, I can hardly wait to read the DoD memo warning troops not to post their photos on Facebook.

While it is not possible to rein in genetic and facial recognition surveillance technologies in dictatorships like China and Russia, Americans should urgently seek to do so through legislation in Congress.

Disclosure: Any would-be criminal relatives are on notice that my DNA test results are publicly available.

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Pentagon Memo Warns Against Identification Risks of Consumer Genetic Testing - Reason

Nathan Anderson and two of his four sons, Griffin, 10, and Brennan, 4, have been diagnosed with a rare mutation on their Runx1 gene. Besides causing easy bruising, excessive bleeding and a tendency to develop hematomas, the mutation predisposes them to certain blood cancers. Wife and mother, Joy Anderson, has become an outspoken advocate for the condition and her family.

As Joy Anderson tucked her four boys into their beds one recent evening, she asked each of them to reflect on the difficult year the family has had.

Oldest son Griffin, 10, expressed anger and sadness, especially because he isnt allowed to play contact sports anymore.

Maxwell, 9, said hes worried about his siblings and parents.

Nolan, 8, said hes tried to be more compassionate, as you never know what someone is facing.

And then theres sweet-yet-rambunctious Brennan. At just 4 years old, he doesnt really understand whats been going on, only that hes had many doctors visits and needle pricks lately.

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A little over a year ago, the Anderson family received news that rocked their world: Brennan had tested positive for the Runx1 gene mutation.

It was the third such blow for the family, who hails from Arlington, a village in Hancock County outside of Findlay, in just a few short months. Griffin first received the same diagnosis in August 2018, followed by their father, Nathan, in November that year and now Brennan.

Maxwell and Nolan, fortunately, do not share the mutation.

"Its like a 50-50 chance of being passed down," Joy said. "In that case, I felt like we were a living statistic."

But their situation is anything but routine: Only 120 individuals in the world have been diagnosed with the mutation.

Visible symptoms of the disease, which causes platelet abnormalities, include easy bruising, excessive bleeding and a tendency to develop hematomas. But the most distressing part is its predisposition (40% to 70%) to certain blood cancers.

"I felt like I couldnt breathe, like I was having a panic attack," the 41-year-old mother said of the diagnoses. "I tried to Google everything to learn more about it, and there isnt really much out there."

Three people she loves dearly half her family now must be followed regularly by a hematologist and undergo bone marrow biopsies annually to monitor for cancer.

"Little did I know we would have such a domino effect after we all got tested," she said.

***

The Andersons had spent much of the first nine years of Griffins life trying to figure out what caused his bruising and the huge goose eggs that would form on his body.

Sure, he was an active boy, but with each small accident, his parents couldnt help notice the extreme results that sometimes landed him in the hospital to ensure his blood had clotted.

Doctors in Toledo offered a general diagnosis of low platelets and a blood disorder when Griffin was 3 and prescribed special medication to use during surgeries.

He began seeing various hematologists at Nationwide Childrens Hospital. However, the family still had few answers until a doctor suggested genetic testing in August 2018.

Thats when the Andersons met Elizabeth Varga, a genetic counselor at Childrens, who counseled them what results might yield.

Four weeks after Griffin had blood drawn for the genetic tests, Varga called to say they found something.

Runx1 is a gene involved in the making of blood cells. If there is an abnormality, it can impair the production of platelets, which help blood clot.

Patients are predisposed "to something called myelodysplastic syndrome, which is essentially a pre-leukemia state that can evolve and change to be a cancer of the blood," Varga told the family.

Typically, thats acute myeloid leukemia, which is most common in adults over 60, but the Runx1 mutation increases the risk for AML in all ages.

"So basically from the time of birth youre kind of set up to have that evolution," Varga said. "However, not all patients that have a Runx1 abnormality will ever get cancer right now we dont have a great way to gauge who will and who wont."

To deliver this news to Joy was very difficult, said Varga, who has three young sons.

Each phone call, Joy said, felt like a "sucker punch," as she struggled to learn what this would mean for their family.

***

In the days leading up to Griffin and Brennans first bone marrow biopsy in December 2018, the elder brother watched YouTube videos of the minor but uncomfortable procedure, which is the best way to monitor changes.

"I was interested in it," the fifth grader said. "I want to be an ER doctor when I grow up."

Joy and Nathan Anderson said its a bit of an odd blessing that two sons have the diagnosis as they dont have to be alone.

"I usually tell Brennan to be brave and we can do it," Griffin said, adding that his youngest brothers silly antics calm his nerves.

The mutation presents differently in Griffin and Brennan. Both bruise easily, but its much more pronounced in Griffin.

Brennan has dealt with a slew of pulmonology issues asthma, seven bouts with pneumonia that may be linked with the gene mutation.

Discovered only 20 years ago, very little research has been done on the mutation, making it difficult to discern what symptoms are caused by it, said Katrin Ericson, executive director of the Runx1 Research Program, a California-based nonprofit group that funds research and provides patient support.

Earlier this year, Joy Anderson was the first patient family representative to speak at the organizations annual conference. Shes become very active in increasing awareness of the Runx1 mutation, which is underdiagnosed, Ericson said.

Based on epidemiological estimates, between 2,000 and 18,000 people in the United States could be living with it.

Ericson said the organization is thrilled that, in May, the National Institutes of Health launched the first longitudinal, natural history study of Runx1. The Andersons are one of 25 or so families participating, and they traveled to Bethesda, Maryland, in June for testing.

"These patients have really been struggling with this most of their lives," Ericson said. "They had no idea they had this mutation. Maybe they were misdiagnosed at first."

There can be guilt felt by parents for passing it unknowingly to their children, and Joy said her husband feels this way.

Nathan his parents tested negative never experienced symptoms, he said. However, looking back, routine blood work often showed low platelet counts.

"Shortly after the diagnosis, I was at a charity event for work and I was chopping wood," Nathan said. "I noticed that I had bruises up and down my arm."

During his first bone marrow biopsy at Ohio State Universitys Arthur G. James Cancer Hospital last December, doctors discovered he had myelodysplastic syndrome (MDS), or pre-leukemia. Hes unsure what this means for the future, except continued monitoring.

Nathan and his two sons will travel to the NIH in the summer for follow-up biopsies. (Griffin and Brennan had a second one in June with zero changes.)

The boys also have blood drawn every few months.

"Our hope is if we do more frequent surveillance for MDS, that we will hopefully be able to be preemptive," Varga said. "If we do see any progression, the only cure right now is a bone marrow transplant."

However, a bone marrow transplant which requires chemotherapy and a lifetime of immunity-suppressing drugs is a procedure that wouldnt be done without good reason, Varga said.

***

One of the biggest challenges of having a genetic disorder, Joy and Nathan agreed, is explaining it to others.

"Some people think were dying and some think were getting chemotherapy," said Nathan, who has taken up running to cope with the diagnosis and keep himself healthy. "Others think its not a big deal."

People have questioned the necessity of "putting our kids through all this," Joy said. Others have said that everyone would find something wrong if they did genetic testing, she said.

"Were trying to monitor and learn more," she said. "Im all about being proactive. I feel like what if we never even did anything about it, and then one day this has progressed to leukemia and its so far into it, we cant do anything to help."

That attitude, Varga said, represents a shift shes detected.

"Previous generations, there was much more of I dont want to know," Varga said. "There was a fear of stigma or discrimination, but younger generations are more embracing (of) knowledge and being powerful."

***

For now though, the Anderson boys will continue to climb on top of their swing set and run in the field behind their house. Theyll fish and ride bikes and wrestle.

"Theyre boys still, and we want them to live a normal life," Nathan said. "We dont stop."

Griffin has recently fallen in love with playing drums and though his parents dont always appreciate the noise, theyre thankful Griffin has found an outlet other than sports.

The family is thankful for the power the knowledge of this diagnosis ultimately brings them, and with how strong it has shown the six of them to be.

"Its a reminder of just how precious life is," Nathan said. "You might live a long life or you might run into complications. Its a constant reminder to live every day to the fullest."

award@dispatch.com

@AllisonAWard

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Ohio family faces uncertainty as 2 sons, husband diagnosed with rare genetic disorder - The Columbus Dispatch

This article, written byMichael Mackley, Dalhousie University, originally appeared on The Conversation and is republished here with permission:

Youve likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.

Even if you dont find a DNA testing kit under your own Christmas tree, theres a good chance someone you know will.

Whether youre motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work before you spit in the tube.

While exciting, there are things that these genetic testing kits cannot tell users and important personal implications that consumers should consider.

Health, traits and ancestry kits

My main area of research is around clinical genome sequencing, where we look through all of a persons DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits.

The most popular ancestry kit is from AncestryDNA. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is Living DNA, which has a smaller dataset but provides more precise information on the U.K. and Ireland.

The most popular health kit is from 23andMe. Depending on the users preference, results include information on predispositions for diseases such as diabetes and Alzheimers, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that dont provide health information. The kit offered by the newer MyHeritage DNA also provides a combined ancestry and health option.

There are other kits out there claiming to evaluate everything from athletic potential to relationship compatibility. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.

How these tests work

For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis.

During this analysis, these popular tests do not look at the entire genome. Instead, they employ single nucleotide polymorphism (SNP) genotyping. As humans we all share 99.9 per cent of our DNA. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to survey the users genome.

These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, its because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled Southeast Asian. The same goes for traits and health conditions.

How they differ from clinical tests

Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases.

In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes genetic counselling that is often key to understanding results.

In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs.

Users may interpret a result as positive, when the risk increase is only minimal, or entirely false. These tests can also give false reassurance because they do not sequence genes in their entirety and can miss potentially harmful variants.

Before you spit in a tube, stop and think

These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. Theyre also helping to build vast genetic databases from which medical research will be conducted.

But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: identical twins can receive different results. Furthermore, a lack of diversity in the reference data has caused particular concern regarding accuracy of results for ethnic minorities.

There are also concerns about the way these tests emphasize racial categories that science considers to be social constructs and biologically meaningless.

A recent paper in the British Medical Journal suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information they would rather not know.

Users should also consider issues around security and privacy. It is important to read the fine print of the service youre using, and determine whether youre comfortable sharing personal information, now and in the future.

In Canada, policies around genetics have not always kept up with the science. At present, direct-to-consumer genetic testing is unregulated. And, although Canadians have legislative protections against genetic discrimination, those laws are being challenged in the courts, and could change.

Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family.

Bottom line: Its all for fun

Some users may feel they learn more about themselves. For others, results may bring people closer together not a bad outcome for the holiday season.

At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way.

If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional.

Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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DNA tests might be a fun holiday gift, but beware of the hype - HalifaxToday.ca

Its been a banner year for First Opinion. We published nearly 500 essays written by more than 600 authors from industry, academia, government, and private life in the United States and beyond. They took on the mundane, like the implications of the Elijah E. Cummings Lower Drug Costs Now Act (aka H.R. 3), and the fanciful, like why we need a Public Domain Day to highlight when drugs go off patent.

Authors addressed the opioid crisis, patent thickets, the personal toll imposed by drug shortages, drug costs, deaths of despair, the oxymoron of having a waiting room in an emergency department, shoddy production of generic drugs by foreign manufacturers, the burgeoning use of artificial intelligence and machine learning in new drug research and development and health care, and much, much more.

Here are the five most widely read First Opinions of 2019. If you didnt get to read them when they first appeared, now is as good a time as any:

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1. 23andMe had devastating news about my health. I wish a person had delivered it Dorothy Pomerantz thought it would be fun to have her DNA analyzed, so she sent her spit to 23andMe. A link in an email took her to the companys website, where she learned she was at very high risk of developing breast and ovarian cancer. Im not the first person to get surprising and terrible news from an at-home genetic testing company. With the increasing popularity of 23andMe, and other companies like it, I wont be the last. But she wished she had gotten the news from a person.

2. Time in range: a new way for people with diabetes to monitor blood sugar More and more people with diabetes are using continuous glucose meters, which measure blood sugar every few minutes. That information offers a new way to evaluate how well someone is controlling his or her diabetes: time in range. The University of Washingtons Dr. Lorena Alarcon-Casas Wright explains how it works.

3. Our child received a devastating diagnosis before she was born. We decided to protect her Allison Chang learned that, at 15 weeks of gestation, her daughter had severe malformations due to trisomy 18, a deadly genetic condition. She and her husband could not protect our daughter from trisomy 18, but we could shield her from any pain or agony that would come with it.

4. I have spinal muscular atrophy. Critics of the $2 million new gene therapy are missing the point Nathan Yates has lived with spinal muscular atrophy for all 30 years of his life. He answers critics upset over the $2.1 million cost of Zolgensma, a new drug to treat the condition, and asks them to take into account its long-term benefits.

5. Ghost networks of psychiatrists make money for insurance companies but hinder patients access to care When Jack Turban started his training to become a psychiatrist, he went looking for a therapist of his own. What he found were ghost networks of mental health providers.

And heres a bonus: Published in July 2018, the essay Physicians arent burning out. Theyre suffering from moral injury was the third most widely read First Opinion of 2019.

On to 2020!

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5 most widely read First Opinions of 2019 - STAT

In this last full stock trading week of 2019, let's tip our collective hat to the markets. It was quite a year for equities, with major indexes rising to fresh all-time highs on a frequent basis and some of our favorite top stocks reaching the same milestone.

That said, we're seeing a few late-in-the-game stumbles from certain companies listed on the various exchanges. Here's a pair that were nursing a Santa hangover on the day after Christmas.

Image source: Getty Images

Shares of Qiagen(NYSE:QGEN) were eviscerated by almost 21% on Boxing Day, following news that a hoped-for takeover is not going to happen.

The Germany-based company announced the day before Christmas that it has opted to go it alone rather than sell itself to an outside entity. This isn't the gift many investors were hoping for from the genetic testing specialist -- in November it temptingly announced that it had been the target of "several conditional, non-binding indications of interest for a full acquisition." The stock promptly took off like a rocket.

So Thursday's fall to Earth is not surprising. It also brings back concerns investors had before the takeover speculation. After all, Qiagen's latest reported quarter indicated some bumps in the road, with a second consecutive reduction of full fiscal year sales guidance (blamed on difficulties in the Chinese market) and concerns about leadership following the departure of longtime CEO Peer Schatz.

Although the company recently signed up for a potentially promising, long-term collaboration with Illuminain next-generation sequencing diagnostics, we have no pertinent details on the arrangement. Given that, plus uncertainties over Qiagen's other business areas and the pesky matter of the CEO job, it might be best to leave the stock alone just now.

Planet Earth wasn't the only home of downer stocks on Thursday. Far up in space, Virgin Galactic Holdings (NYSE:SPCE) saw a downward trajectory of more than 4% across the day.

It's very possible that a deal announced on Thursday by SpaceX, Virgin Galactic's rival in otherworldly exploration, was the culprit. Privately held SpaceX won a contract from NASA to supply parts for exploratory vehicles.

This isn't a planet-sized deal, as it only totals about $7.5 million. Besides, although Virgin Galactic's ambitions overlap those of SpaceX, the former company is not a maker of components. However, the deal does indicate that there is revenue to be made in the private space sector, and Virgin Galactic still isn't making much (or any, if you don't count deposits for potential space flights by well-to-do tourists).

Somewhat surprisingly, for a company that could be a poster boy for speculative early-stage investments, Virgin Galactic has quite a few admirers in the investment community. Earlier this month, it racked up its third buy recommendation from a noted investment bank (Morgan Stanley, to be exact), which feels it has a lot of upside if it can manage to become the first viable space tourism operator.

That's an awfully long stretch to wait, though, given the monster costs and unproven model of this particular business. I think Virgin Galactic will be a fun stock to watch, but I personally am not about to invest in it.

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2 Stocks That Tumbled on Thursday - The Motley Fool

According to news articles published in early December, Veritas Genetics, a Massachusetts-based company that hoped to lower the cost of whole-genome sequencing, is suspending its U.S. operations because of a lack of investment. Articles theorize that the decreased funding was driven mainly by new CFIUS regulations and heightened CFIUS scrutiny.

Early in December 2019, Veritas announced that its adverse financing situation had forced the suspension of its U.S. business. Veritas has stated that it is assessing potential paths forward, and there are rumors that one such path is the sale of the company. Veritas will no longer sell its tests, which include genetic testing for diseases and cancers (such as the BRCA test), in the United States. Veritas will continue to operate and sell its tests outside the United States.

Veritas first launched in 2014, and since 2015 it had raised $50 million in financing. Major investors included Chinese companies, such as Lilly Asia Ventures, which invested $10 million into the company, and Simcere Pharmaceutical. However, there has been increased scrutiny in the past two years for transactions that involve Chinese investors, especially when sensitive personal information, such as genetic information, is at stake. This year, for example, CFIUS forced iCarbonX, the Chinese, majority owner of U.S. company PatientsLikeMe, to divest its stake in the U.S. company.

According to news reports, recent CFIUS activity may have scared away not only Chinese investors but also non-Chinese investors reluctant to invest in a company with Chinese ownership. Non-Chinese investors may fear that Veritass Chinese ownership will lead to increased CFIUS scrutiny of any investment into Veritas, regardless of the investors nationality. Investors may also worry that CFIUS scrutiny could delay their return on investment if their firms are forced to stall business to address CFIUSs concerns.

No doubt the proposed CFIUS regulations from September also concern foreign investors: the proposed regulations explicitly target U.S. companies that maintain or collect sensitive personal data of U.S. citizens. While most sensitive personal data only triggers the proposed regulations if the U.S. business maintains or collects such data on greater than one million individuals, companies with genetic data are considered to be covered businesses no matter how many individuals are involved. Thus, companies like Veritas will always fall under CFIUS jurisdiction if a foreign person would acquire certain rights in the company. These rights include:

Several genetic and biopharmaceutical companies expressed concern in public comments to the regulations that the proposed regulations, specifically including all genetic data in the definition of sensitive personal data, would stymie foreign investment in these companies. Several companies argued that the Department of the Treasury should revise the proposed CFIUS regulations to require that genetic data be identifiable. Companies often are in possession of anonymized genetic information, which these companies argued does not pose a risk to national security. We await publication of the final regulations and whether CFIUS will make any changes to the definition of sensitive personal data, particularly as it pertains to genetic information. It is to be seen whether U.S. companies in other industries will face similar funding obstacles as foreign investors grow more wary of CFIUS.

Originally posted here:
Veritas, a US Genetic Sequencing Company, Suspends US Operations Due to Decreased Funding; CFIUS Thought to be Leading Cause - Lexology

Check out the companies making headlines before the bell:

Boeing Boeing remains on watch, after new documents reviewed by a congressional panel revealed what's being called "very disturbing" revelations regarding the grounded 737 Max jet, according to a congressional aide quoted by Reuters. Boeing issued a statement saying it had proactively brought the documents to the FAA and Congress, and said the tone and content do not reflect "the company we are and need to be".

Amazon.com Amazon said the holiday shopping season broke all prior records, with "billions" of items ordered worldwide and "tens of millions" Amazon devices purchased.

Qiagen Qiagen said it decided against a sale of the company following a review. The Netherlands-based genetic testing firm said it determined that operating as a stand-alone business is its best option. Qiagen said it had gotten several indications of interest, with reports saying one of those potential bids came from medical device maker Thermo Fisher Scientific.

PayPal PayPal will continue to pursue potential takeover targets in 2020, according to Chief Financial Officer John Rainey. He told the Wall Street Journal there are many acquisition opportunities in the payments sector, with PayPal targeting transactions in the $1 billion to $3 billion range.

Exxon Mobil, Chevron These and other oil stocks could get a boost as oil prices touch their highest in more than 3 months, boosted by a report showing lower U.S. crude inventories.

TiVo The digital video recorder maker said it would pay a termination fee of $50.8 million to technology licensing company Xperi under certain circumstances, if their planned all-stock merger does not take place. There are other termination scenarios, according to an SEC filing, in which Xperi would pay TiVo $44 million.

KKR The private equity firm is buying digital content platform Overdrive from Rakuten for an undisclosed amount. The Japanese e-commerce company purchased Overdrive in 2015 for $410 million.

Spectrum Pharmaceuticals The drug maker said its experimental treatment for non-small cell lung cancer missed its primary goal in a mid-stage trial.

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Stocks making the biggest moves premarket: Boeing, Amazon, PayPal & more - CNBC

In the world of rare diseases, patient testimonies about the extreme difficulties of receiving an accurate diagnosis for an illness are numerous. For instance, one woman, sick for most of her young life, was not properly diagnosed with idiopathic gastroparesis an ultra-rare disease that affects stomach motility and digestion until late in college after seeing numerous different specialists in multiple fields and undergoing a battery of testing.1 Another patient, now active in the rare disease advocacy community, went undiagnosed with familial partial lipodystrophy a disease that, among other things, causes selective fatty tissue loss for 37 years.2

Unfortunately, these stories are not unique. One survey indicated that it took on average 7.6 years to properly diagnose a rare disease patient in the United States.3 Another study indicated that a rare disease patient on average consulted eight different physicians before landing on an accurate diagnosis, with only 12.9 percent of respondents indicating that they had seen only one physician prior to diagnosis (23.5 percent of respondents had seen between six and 10 physicians).4 Frequently, rare disease patients exhibit similar symptoms as other, more common diseases, making diagnosis complicated and leaving patients confused and frustrated about a path forward. Further complicating the situation is that traditional treatments for more common illnesses that mimic rare disease symptoms, such as irritable bowel syndrome in the case of the aforementioned gastroparesis patient, may actually worsen a patient's condition.

As such, the misdiagnosis of rare diseases, in addition to being traumatic for patients and their families, can be extremely expensive. One study indicated that over a 10-year period, an undiagnosed rare disease patient cost over 100 percent more than the average patient. This was due in part to a significant increase in outpatient visits compared with the average patient. (The cost differential was heightened in pediatric patients.)5 Such data indicates that shortening the path to diagnosis for rare disease patients may lead not only to increase patient health but also to a significant reduction in overall long-term healthcare costs.

According to the National Institutes of Health (NIH), there may be upward of 7,000 rare diseases in the United States affecting as many as 30 million people, or nearly one-tenth of the U.S. population.6 Alarmingly, only 5 percent of identified rare diseases have an approved treatment. Despite this daunting figure, approximately 80 percent of rare diseases have genetic origins, a common factor that points to genetic (the testing of individual variants or individual/multiple genes and their effects on an individual) and genomic (the study through various methods of an individual's entire genome and its interaction with the environment) testing as logical tools for identifying and ultimately combating these illnesses.

Genetic Testing Becoming More Common

From concept to execution, the Human Genome Project at the NIH took approximately 15 years and involved the creation of the National Center for Human Genome Research (now the National Human Genome Research Institute, an official Institute at NIH), the collaboration of hundreds of national and international scientists, and an approximate, inflation-adjusted total investment of $5 billion.7,8Since that time, the cost of performing genetic and genomic testing has declined significantly, with a per-genome cost of slightly less than $1,000 in 2019 compared with per-genome costs of approximately $95 million and $30,000 in 2001 and 2010, respectively.9 This significant cost reduction, which has been associated with the development of next-generation sequencing platforms and leaps in computer hardware development, among other things, has opened the door for patients to more readily access these important resources.

Most tests fall into overall categories of DNA diagnostic testing that include single-gene tests, which can detect an abnormality in a gene associated with a particular genetic illness; whole exome sequencing, which sequences the protein-encoding regions of genes; or whole genome sequencing, which is the most rigorous in that it involves sequencing the individual's entire genome. Given the sheer number of rare diseases and the size of the human genome, it is not surprising that there are numerous genetic tests on the market today. One study indicated that there are approximately 75,000 genetic tests on the market, or 10 issued every day.10

However, insurance coverage for these technologies is minimal and inconsistent despite recent positive reception for the increased use of enhanced technologies for patient treatment through the Precision Medicine Initiative, the NIH's Cancer Moonshot and similar programs. One study indicated that coverage for multigene testing varied drastically by disease type and that tests for broad indications or a large range of genes (i.e., those tests that may be helpful in narrowing down disease possibilities in a diagnostic profile) are frequently not covered by insurers.11 It should be noted that some progress has been made on national coverage determinations for some more widely recognized testing technologies. For instance, next-generation sequencing, a revolutionary sequencing technology that sequences genetic material multiple times simultaneously against a reference genome, received a reissued national coverage determination under the Medicare program from the Centers for Medicare & Medicaid Services (CMS) in October 2019.12 However, while this decision was significant as a model for future coverage for genetic testing services, it was only a minor first step in that it was limited only to previously untested patients with ovarian or breast cancer who are Medicare eligible.13

The large and complicated landscape of genetic testing is partially responsible for the lack of insurance coverage for these technologies. For instance, there are only about 200 standardized Current Procedural Terminology (CPT) codes to identify various types of genetic tests to insurers, other physicians, hospitals and health systems, limiting the ability for payers to systematically cover these technologies. This is especially true when applying "medical necessity criteria," which requires a provider to submit accurate information showing that a treatment or test is medically necessary to treat or diagnose a specific illness in order for it to be reimbursed by a payer. Data have shown that a majority of spending in the past several years on genetic tests has gone to noninvasive prenatal tests, cancer screening tests and multiple-gene analyses.14 This is unsurprising given that some of these technologies target pre-identified, validated markers and that newer screening methods present fewer risks for patients than other, more traditional or invasive testing methods.15 For many conditions, however, showing the medical necessity of genetic testing is still a complicated and unpredictable process when a patient is in the middle or beginning of his or her diagnostic odyssey.

Thus, coverage of new genetic testing technologies continues to remain a major challenge for the medical community and a mystery for the tens of millions of U.S. patients with rare diseases. Although small-scale studies and other evidence show that the use of genetic testing as a means to more quickly and accurately diagnose patients can reduce overall health expenditures, policymakers still lack systematic data showing the effectiveness of genetic testing as a means of cutting overall health spending at a macro level.

Help on the Horizon?

Bills have been introduced as recently as the 116th Congress that would create demonstration projects to test coverage of genetic testing technologies for certain patients to help inform future expansions of genetic testing coverage. In addition, Reps. Diana DeGette (D-Colo.) and Fred Upton (R-Mich.), the original champions of the 21st Century Cures Act,16 recently issued a request for information to help inform a follow-on version of the landmark legislation dubbed "Cures 2.0."17 One of the main focuses of their inquiry is into "how Medicare coding, coverage, and payment could better support patients' access to innovative therapies." Expanded coverage to increase access to genetic testing technologies could certainly fit within this scope and would help supplement expanded access and coverage of other new and innovative healthcare technologies for rare disease patients.

Stakeholders across the rare disease landscape have also shared consistent concerns with the length of time between when a new or breakthrough medical technology is approved and when it receives coverage by insurers. Underutilized programs may help speed new technologies to the patients that need them by shortening the gap between approval and coverage. One such example is the U.S. Food and Drug Administration (FDA)-CMS parallel review program for medical devices, which was recently touted by U.S. Department of Health and Human Services (HHS) Deputy Secretary Eric Hargan at the recent FDA/CMS Summit18 and through which a next-generation sequencing test received a parallel approval and coverage determination in 2017.19 These efforts may help the scientific community and others assemble data about how greater access to these technologies positively affect patient care, provide information necessary for lawmakers to empower CMS, the FDA and others to work together on increasing coverage and access, as well as to create mechanisms to speed new technologies to patients in need.

In addition to testing expansion of coverage and access for genetic and genomic testing, further investments should be made into public-private partnerships and other information gathering networks that may centralize information from a diverse group of medical professionals to provide patients additional resources for rare disease diagnosis. For instance, the Undiagnosed Diseases Network, housed at the NIH, utilizes a dozen sites nationwide where teams of physicians assess rare disease patients and share data, including genetic testing data through a "sequencing core," to maximize the amount of national expertise available to pin down rare disease diagnoses that would be extremely difficult and expensive to receive if patients sought expertise individually.20 In addition to further investment in these resources, continued policy development and investment in the development of artificial intelligence technologies and diagnostic support software tools, which have shown promise in assisting physicians in the early detection of rare disease through symptom analysis,21 will provide additional means for patients to receive care more quickly through largely noninvasive means.

Finally, payers both public and private may lack expertise in understanding and evaluating genetic tests, especially for rare diseases. Insurers should prioritize hiring individuals to supplement their teams who have some form of advanced knowledge not only of rare diseases but also the nature of genetic testing technologies and how they are used to expedite disease diagnoses. This is especially true given the rapid development of new testing systems and the growing use of other diagnostic technologies promoted in part by provisions in the 21st Century Cures Act and other legislation.

While it typically refers to something that is uncommon, the term "rare" can also imply heightened value. Greater investment in improving the diagnostic odyssey for rare disease patients, including through greater coverage of new technologies, can only enhance the value and efficiency of the U.S. healthcare system for all patients not just the few.

Link:
Sequence of Events: Genetic Testing Offers Significant Promise, But Coverage and Access Limited - Lexology

This years Clinical Trials on Alzheimers Disease meeting began in mid-December with a bang and ended a few days later with hallway conversations laced with worry. The topic, in both cases, was aducanumab, an experimental drug for treating people with Alzheimers disease.

The meeting got off to celebratory start as a top Biogen scientist presented results showing that the highest dose of aducanumab may benefit people with mild cognitive impairment (MCI) and elevated amounts of a protein called amyloid in the brain. That presentation represented an about-face for the company, which had pulled the plug on two trials of the drug in March.

Yet even the most enthusiastic interpreters of the drugs effects on measures of cognition and function agreed that the benefit to patients was a mild slowing, not a halt, and it was certainly not a cure for Alzheimers disease.

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But we also learned that as aducanumab clears amyloid from the brain, it can cause both microscopic hemorrhages and swelling in the brain, particularly in individuals who have a heightened genetic risk of developing Alzheimers disease dementia.

With these facts in hand, aducanumab becomes a kind of thought experiment. What if we could treat mild cognitive impairment caused by Alzheimers disease with a somewhat effective but costly and risky drug? The answers are discomforting.

For much of the 20th century, America largely ignored dementia. It was widely believed that its most common cause was senility, an extreme stage of aging. That changed in April 1976 with a 1,200-word essay titled The Prevalence and Malignancy of Alzheimer Disease: A Major Killer in the Archives of Neurology. In it, neurologist Robert Katzman argued that older adults with disabling cognitive and behavioral problems did not have senility but had Alzheimers disease, a medical problem in need of the full force of American medicine to diagnose, treat, and ideally prevent.

Nearly half a century later, America hasnt come close to solving the problem of Alzheimers disease and other causes of dementia: We dont have effective treatments and we also dont have an effective physician workforce to prescribe and administer them.

Parsing out age-related cognitive complaints from mild cognitive impairment and explaining that diagnosis is a challenging task. There arent currently enough clinicians skilled to evaluate the millions of older adults with cognitive complaints, care for those with MCI and dementia, and prescribe a costly drug that slows but does not cure Alzheimers disease and poses risks to the very same brain they are trying to treat.

Imagine that the FDA approves aducanumab, or a drug like it. Individuals with mild memory problems who dont have MCI should be sent home with reassurance or with treatments for the problems causing their memory complaints, such as anxiety, too much alcohol, or poor sleep. Those with MCI thats about 15% of older Americans would be candidates for PET scans to measure the amount of amyloid in the brain.

To evaluate the millions of Americans who see a doctor because my memory isnt as good as it used to be, overworked and underskilled clinicians are likely to take shortcuts: Never mind diagnosing mild cognitive impairment. Just order the amyloid test. If its positive, prescribe the drug. Otherwise, dont prescribe it.

That approach will be costly. A PET scan for brain amyloid costs around $4,000. Less-costly spinal fluid tests could substitute, but few clinicians are skilled at performing them. Aducanumab, as a manufactured and injected monoclonal antibody, will be expensive. The risk of small swellings and bleeds in the brain would require MRIs to assess safety, which would increase the need for clinicians skilled in interpreting the scans and adjusting treatment plans.

A drug like aducanumab presents clinicians with other novel challenges. It is one of several drugs whose risks, and possibly its benefits as well, are associated with having the ApoE4 gene a gene known to increase an individuals lifetime risk of developing Alzheimers disease dementia. The decision to start the drug may well include ApoE testing so individuals can better understand their risks and possibly responses to the drug.

Genetic testing means that clinicians will have to practice genetic counseling at visits that may need to expand from the dyad of patient and caregiver to include an extended and worried family. A prescription for aducanumab would be startling news for a patients siblings, adult children, and grandchildren: You too may have the Alzheimers gene. You too may want to have an amyloid test.

A treatment that slows Alzheimers disease, that delays the onset of dementia, promises to reduce disability and preserve autonomy. The failure to properly prescribe it could, however, increase the spectacular tallies of the time and costs of caregiving that define much of the Alzheimers crisis.

Lets assume that additional studies show that aducanumab does indeed slow the progression of Alzheimers disease with benefits that exceed its risks. Some of those who take the drug will die of other causes, such as heart disease or cancer, before dementia takes hold. But others will, in time, experience more and more disabling cognitive impairments. As they do, theyll need care.

Some will be cared for in nursing homes or facilities devoted to dementia care. Most will be cared for at home. The Alzheimers Association estimates that in 2018, 16.3 million family members and friends provided 18.5 billion hours of unpaid care to people with Alzheimers and other dementias.

This care ought to include education and training for patients and caregivers. It should also include activity programs tailored to patients abilities and disabilities. These include memory cafs, where people come together not as patients but persons, and centers whose staff members are skilled at creating days that are safe, social, and engaging, with activities such as reminiscence, music, theater, art, and exercise.

Although these ought to be the standard of care, few of them are routinely available to caregivers and patients. Doctors dont typically prescribe them, and their costs are mostly paid out of pocket. A 2013 report estimated that these out-of-pocket costs, together with the time caregivers devote to care, make up as much as half of the diseases annual $200 billion-plus cost.

A disease-slowing treatment that reduces disability ought to reduce the time spent on caregiving. But it will not allow the U.S. to ignore its fractured and disorganized system of dementia care and how this nonsystem offloads much of the costs onto patients and families. Medicare, which was created in 1965, does not pay for long-term care. We must update this antiquated law and support long-term care.

The ability to control Alzheimers disease with a drug will also demand that we engage with difficult issues regarding life and death. Disease-slowing treatments for Alzheimers will challenge our criteria for access to hospice care, as well as to physician aid in dying. Individuals with a chronic and progressive disease like Alzheimers may, in time, decide they no longer want treatment. A robust ethic of respect for persons supports their right to stop treatment. It is entirely possible that some patients, as they decline, may decide: Enough. This disease has progressed. I want to stop treatment.

After that decision or if the drug doesnt work what kind of palliative care is available when death is not in six months away but may be six years away, or longer? Medicares hospice benefit is available only to individuals with six months or fewer to live.

Physician aid in dying, which is available to residents of nine states and the District of Columbia, is also not an option. Individuals who choose this route must have a prognosis of living six months or fewer, be able to decide to end their life, and be able to take the lethal dose of medication.

We ought to be deeply concerned that the limited access to care and its cost are not perverse incentives to seek aid in dying.

We should also expect that the more we control the natural history of Alzheimers disease, the more well begin to question when were dying of it and how we should die.

Katzman foreshadowed this in closing his 1976 essay: In focusing attention on the mortality associated with Alzheimer disease, our goal is not to prolong the lives of severely demented persons, but rather to call attention to a disease whose etiology must be determined, whose course must be aborted, and ultimately a disease to be prevented.

In 2012, the National Plan to Address Alzheimers Disease premiered a strategy to achieve Katzmans vision. Goal number one was that by 2025 we will prevent and effectively treat the disease. Research on aducanumab and other drugs in the pipeline that target amyloid and other causes of neurodegeneration is one route to achieving this. Equally important is disseminating strategies that promote brain health exercise, education, smoking cessation, and the like that have been decreasing the risk of developing dementia since the 1970s.

We do this research with hope that drug interventions will help address the economic and moral costs that have transformed Alzheimers from Katzmans common disease into a crisis. At the same time, we must be mindful that these interventions will present new economic and moral costs. If we fail to address them, the crisis will endure.

Jason Karlawish, M.D., is co-director of the Penn Memory Center and a site investigator for clinical trials sponsored jointly by the National Institute on Aging and Novartis (Generations program) and the NIA and Eli Lilly (the A4 Study). You can follow him on twitter @jasonkarlawish.

Excerpt from:
Aducanumab isn't the simple solution to the Alzheimer's crisis - STAT - STAT

SPRINGFIELD As people throughout Illinois prepare to ring in the New Year, the Senate Republican Caucus is continuing to highlight new laws that will take effect on Jan. 1.

The new laws kicking off 2020 cover everything from protecting children under DCFS care to safeguarding individuals privacy and personal information.

New DCFS requirements seek to better protect children

The Department of Children and Family Services spent much of 2019 under scrutiny because of its mishandling of the abuse of a 5-year-old child, who was later beaten to death by his parents.

This tragic event, along with other mishandled issues inside the department, led the General Assembly to take a more in-depth look into the agency and pass several new requirements to better protect the children under DCFS care.

Beginning Jan. 1, DCFS will have to meet the following requirements:

House Bill 831/PA 101-0043: DCFS must notify the Department of Public Health and the Department of Healthcare and Family Services of all reports involving children alleged to have been abused or neglected while hospitalized.

House Bill 3587/PA 101-0155: DCFS must establish and maintain a toll-free number to respond to requests from the public about its post-placement and post-adoption support services.

Senate Bill 1743/PA 101-0166: DCFS must develop and conduct a standardized survey to gather feedback from children who are aging out or have transitioned out of the foster care system, and place a locked suggestion box in each group home and shelter.

House Bill 1551/PA 101-0237: DCFS must comply with several new guidelines when a child in its custody is returned to their parents or guardian.

Senate Bill 1239/ PA 101-0583: DCFS must report alleged abuse or neglect of a child by a person who is not the childs parent, a member of the childs immediate family, a person responsible for the childs welfare, an individual residing in the same home of the child or a paramour of the childs parent to the appropriate local enforcement agency.

Baby changing stations required in all public buildings

Finding a location to change your little ones diaper will be a lot easier for parents starting in 2020. House Bill 3711 requires all public buildings with restrooms open to the public to have at least one baby diaper changing station accessible to both men and women. Additionally, signs must be posted near the entrance indicating the location of the diaper changing station.

New laws protect pets

Laws protecting pets are among those that will take effect Jan. 1.

House Bill 3390 requires pet boarding facilities that do not have 24/7 staffing to be equipped with a fire sprinkler system or a fire alarm monitoring system that triggers notification to local emergency responders. This new law is in response to a fire at a West Chicago kennel that killed several animals.

Also, at the start of the New Year, cat owners will be required to have their cats vaccinated for rabies. All cats four months or older, excluding feral cats, must receive a rabies vaccination and have a subsequent vaccination within a year of the first one occurring.

New laws ensure privacy, protect personal information

Protecting individuals personal information is the intent behind several new laws taking effect Jan. 1.

House Bill 2189 prohibits direct-to-consumer commercial genetic testing companies from sharing any genetic test information or other personally identifiable information about a consumer with any health or life insurance company without written consent from the consumer.

Under Senate Bill 1624, data breaches impacting more than 500 Illinois residents as a result of a single breach must be reported in the most expedient time possible to the Attorney General.

House Bill 2408 prohibits a person from posting private compromising images of another person online. It also provides for a process for a person to obtain a take-down order to have the images removed.

The full list of January 1 new laws

Theres more to know before 2020 kicks off! To view a full list of laws taking effect January 1, visit https://bit.ly/2EfHMVQ.

Warmest wishes to you and yours for a very Merry Christmas.

If you have any additional thoughts or ideas, please visit my website at http://www.senatorstewart.com and use the form to send me an e-mail.

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From the Capitol: Heres part 2 of the new laws for Illinois - Freeport Journal-Standard

(WZAW) -- Jenna Finley is a board-certified genetic counselor at Invitae, a leading medical genetics company. After counseling patients for years, Jenna knew the power with genetic information, but with no strong family history of disease she wasnt concerned about her risk. She mostly wanted to better understand the experience of her patients.

Her results revealed a genetic change in a gene associated with an increased risk of breast cancer. She went to see her doctor, who referred her to a high-risk breast cancer clinic, where she worked with a team to establish a plan to carefully monitor her health. Now any signs of breast cancer that develop will be caught early.

With her job experience, Jenna knew that the other members of her family should be tested in case they, too, faced an increased health risks based on their shared genes. In fact, her mothers test came back positive for the same cancer-causing genetic change Jenna has. More surprisingly, her father learned that he has a disorder that causes excess iron in the bodys organs, which can be fatal.

Jennas father quickly went to his doctor who found his iron levels were so high that he had to begin treatment immediately to avoid potentially irreversible damage. Had Jenna and her parents not gone through the process of genetic testing, they might have ever known about these health conditions.

Studies show that increased genetic risks are common. In fact, 1 in 6 consumers in the U.S. have a medically actionable disorder and may not know it.

Genetic testing help with a wide range of health questions, whether youre current facing a health issue, planning for a family, currently expecting or interested in preventing disease.

For more information, visit http://www.invitae.com

Continued here:
One woman's genetic test might have saved her father's lilfe - WSAW

The tech giant is granting a segment of its California-based employees access to DNA sequencing startup Color's genetic screenings free of charge through Apple's on-site health clinics, CNBCreports.

Business Insider Intelligence

Apple's dedicated health clinics dubbed AC Wellness wereunveiled at the beginning of 2018, and though they're located on-site, AC Wellness is a separate company from Apple. The Apple offshoot has supposedly been collaborating with Color for several months, sources divulged to CNBC.

Apple's move to offer its employees free access to genetic testing underscores its proactive approach to employee health services as it and other large, self-insured employers look for ways to stomp down medical spending.

Any insights extracted from Color's genetic tests will come with genetic counseling and be interpreted by AC Wellness docs which could guide customized, effective care.Color's test pinpoints gene mutations linked to common and costly conditions, like certain types of cancer and heart disease.

Theoretically, if a patient's genetic test comes back with a result that's cause for concern, doctors could formulate a personalized treatment plan that helps patients take preventative moves to sidestep disease development or progression and, in the case of cardiovascular disease, Apple could save big, considering heart disease costs could top$1 trillionin the US over the next two decades, per an RTI International study.

Further, providing employees with Color's service which comes with geneticcounselingand could help steer docs' care is a smart move since only asliverof doctors think physicians have the knowledge and skill set needed to help patients comprehend direct-to-consumer genetic test results, per a 2019 study.

And Apple's tie-up with Color comes as self-insured employers are looking for innovative ways to build up an armor against an impendingrisein medical costs.We're seeing prominent businesses take action to cut down on healthcare costs by offering services to connect employees with fast access to care: Amazon recentlylaunchedAmazon Care a virtual care service for its employees and Walmartexpandedtelehealth offerings and debuted a personalized health concierge program for its workers.

Employers' average annual premium contribution reached an all-time high of$14,500in 2019 up from the $9,800 they shelled out a decade earlier and as this number climbs, self-insured employers will need to continue to develop innovative solutions to help curb spending.

And while Apple's alliance with Color might hint at a future in which the tech giant incorporates genetic testing services into its clinical research play we're not sure this would go over well with consumers.

Genetic testing insights could be a value-add to Apple's aggressive clinical research endeavors.In recent months, Apple has made it clear that its health play hinges on forging clinical research partnerships: It's building out its Watch as a health tool, andflauntsalliances with medical research titans. And if it were to, for instance, purchase a genetic testing startup and aggregate that huge repository of data alongside its already-rich set of smartphone- and wearable-generated data Apple could become an even more valuable research partner.

But consumers are wary about sharing their health data let alone sensitive genetic information with big tech firms.Only about 10% of US consumers would be willing to hand off health info to a tech firm and of that minute percentage, only42%tap Apple as a trusted recipient, per Rock Health.

We think Apple would face a huge amount of scrutiny among consumers and docs alike if it tried to tie up more broadly with a genetic testing firm, especially in the wake of heightened wariness surrounding tech giants' use of health data: For example, Google is currently under investigation from the US Department of Justice after a partnership with health system Ascensionusheredin backlash from physicians who were unaware of the deal.

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Apple partnered with Color to bring genetic testing to its employees - Business Insider Nordic

Published: January, 2020

Doing genetic tests on all women with breast cancer, as compared with the typical practice of just testing those with a family history of the disease, is worth the extra cost, according to a study published online Oct. 3, 2019, by JAMA Oncology. The study authors say their findings should prompt the expansion of genetic testing to all women diagnosed with breast cancer. It's clear that testing breast cancer patients for genetic variants that raise breast cancer risk (such as BRCA1, BRCA2, and PALB2) would enable doctors to identify more women who carry these variants and who might benefit from preventive strategies. But researchers wondered whether doing so would be too costly. To answer that question, they used a computer model to analyze data from more than 11,000 women. They found that not only would the cost of testing all American women with breast cancer be balanced out by later savings on health care services, but also that just one year of testing could prevent an estimated 9,700 new cases of breast and ovarian cancer and 2,400 deaths.

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Gene tests for all women with breast cancer could save money and lives - Harvard Health

Led by Ros Eeles (Institute of Cancer Research, London, UK) and Michael Sandberg (90 Sloane Street, London, UK), a pioneering study aims to evaluate the practicality and potential benefits of utilizing genetic testing to assess an individuals risk of developing a given disease.

With the current popularity of direct-to-consumer genetic tests, such as 23andMe and AncestryDNA, public interest in genetics is at an all-time high. Such tests are often inaccurate and make unsubstantiated claims, highlighting the importance of integrating a properly controlled and verified genetic test into primary healthcare.

The scheme, known as the 90S study, launched on December 6th, 2019, and aims to assess the suitability of whole-genome sequencing in healthy patients, with the hope of aiding the early diagnosis of ailments such as cancer and heart disease. The study aims to sequence the genomes of approximately 1000 GP patients, who will be recruited from the private general practitioner (GP) surgery, 90 Sloane Street.

Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting, by sequencing patients entire genomes from samples taken at a GP surgery and testing for the presence of 600 key genetic alterations. What we hope is that genetic screening is practical as a way of picking up genes associated with cancer and heart disease, is psychologically acceptable to patients, and can alter the way they are managed by their GP, explained Eeles.

The project will give us crucial information about whether genetic screening in primary care could be feasible, and how we should go about seeking to implement it within the NHS, Eeles added.

The first 20 patients to join the study will receive a psychological evaluation, to assess the impact of genetic screening and its acceptability to patients. All participants will receive echocardiograms to ensure a full understanding of the patients health, but also to put those who have demonstrated genetic risk of heart disease at ease that their current health is good.

The study will be comprised of two groups, half of which will have a family history of cancer or heart disease and half will not. It is hoped that other GP practices will be incorporated into the study, widening the pool of study participants.

The primary aim of the study is to identify potential methods for the simplification and improvement of existing processes in order to incorporate large-scale genetic screening into the NHS.

Working in partnership with experts at The Institute of Cancer Research and The Royal Marsden (London, UK) means we can integrate whole-genome sequencing into screening in primary care with the genetic support that is essential, commented Sandberg.

Read the original post:
Assessing the Future of Genetic Testing in Checkups - BioTechniques.com

1 in 6 people in the U.S. have a medically actionable disorder and may not know it

by: Anna McAllister

WEST MONROE, La. (12/16/19) Jenna Finley is a board-certified genetic counselor at Invitae, a leading medical genetics company. After counseling patients for years, Jenna knew the power with genetic information, but with no strong family history of disease she wasnt concerned about her risk. She mostly wanted to better understand the experience of her patients.

When she received her results, she was shocked.Her results revealed a genetic change in a gene associated with an increased risk of breast cancer. She went to see her doctor, who referred her to a high-risk breast cancer clinic, where she worked with a team to establish a plan to carefully monitor her health.

Now any signs of breast cancer that develop will be caught early.As a genetic counselor, Jenna knew that the other members of her family should be tested in case they, too, faced an increased health risks based on their shared genes. In fact, her mothers test came back positive for the same cancer-causing genetic change Jenna has.

More surprisingly, her father learned that he has a disorder that causes excess iron in the bodys organs, which can be fatal. Jennas father quickly went to his doctor who found his iron levels were so high that he had to begin treatment immediately to avoid potentially irreversible damage.Had Jenna and her parents not gone through the process of genetic testing, they might have ever known about these health conditions.

What Your Genes Can Tell You About Your Health:Your genes reveal more than just where your ancestors were from. Tiny changes in your genes can put you at increased risk of a wide variety of diseases, including cancer and heart disease.

Why Medical Genetic Testing is So Important:Not all genetic tests are created equal. The tests that are popular gifts at the holidays that tell you about your ancestry do not give you the health information you can use to make health decisions like Jennas family did. Jenna can tell you what to look for and how to choose a medical genetic test.

Her Personal Story:Jenna had no reason to believe anything would be amiss, and her entire career was based on understanding how your genes affect your health. She was a proponent of genetic testing before she did it herself, but now is a huge advocate of testing for families, knowing shes helped multiple family members live longer and healthier lives.

Family Health History: It is important to understand your familys health history and to think about how genetic testing can complement what you know.Jenna will also touch on how to broach the topic of health history when youre going home for the holidays and how to handle the sometimes-difficult conversations that happen when your health impacts others in your family.

Increased Genetic Risks are Common: 1 in 6 consumers in the U.S. have a medically actionable disorder and may not know it.

How Genetic Testing Can Help:Genetic testing help with a wide range of health questions, whether youre current facing a health issue, planning for a family, currently expecting or interested in preventing disease.

For more information on genetic testing, you can visit http://www.invitae.com.

The rest is here:
The gift of genetic testing - KTVE - myarklamiss.com

Are you one of the 26 million people who have experienced genetic testing by companies such as 23andMe or Ancestry? These companies promise to reveal what your genes say about your health and ancestry. Genes are, indeed, the instruction book containing the code that makes you a unique human being. This specific code which you inherit from your parents is what makes you, you.

The genetic coding system works amazingly well, but like all systems, occasionally things dont go as planned. You may inherit a gene that increases your chance of developing a health condition and sometimes the code develops an error causing you to have a devastating disease.

If genetic testing is so powerful in analysing and understanding your health, why cant you just as easily have this same genetic information inform your care at the doctors office? To answer this question, lets first look at the field of using genetic information to drive your healthcare (often referred to as precision or personalized medicine).

Across the globe, researchers devote enormous amounts of time and effort to understand how human genes impact health and billions of dollars are invested. The knowledge of what impact specific genes have on our health has increased tremendously and continues to do so at an amazing pace. Our increased understanding of genes, and how they affect our health, is driving novel methods to halt diseases and new ways of thinking about how medications can be developed to treat diseases.

Precision medicine is a growth area

With all this money and effort being expended, why isnt the use of your genetic information a standard part of your medical care? As the Kaiser Permanente Fellow to the World Economic Forums Precision Medicine Team, I recently had the opportunity to interview leaders from every aspect of Precision Medicine to understand the barriers preventing genetic testing from becoming a standard part of your healthcare.

Those with whom I spoke included insurance companies who pay for the tests, doctors who use and interpret them, genetic counsellors who help you understand test results, diagnostic companies which develop testing, government healthcare regulators, researchers making astonishing discoveries and healthcare organizations who are determining how best to deploy genetic testing.

These interviews suggest that the science behind genetic testing and the knowledge of how genes impact health is far ahead of our ability to make full use of this information in healthcare. Moving genetic testing into your doctors office requires a complex set of technologies, processes, knowledge and payments. Though many of the barriers inhibiting this movement were unique and complex, there were some consistent and common themes:

1. The limited expertise in genetics within healthcare systems. The need for education of healthcare providers as well as the public was regularly highlighted. The use of genetics in healthcare requires specialized knowledge that is outside the expertise of most doctors. Healthcare providers simply dont have time to study this new and rapidly changing information as their hands are full just keeping up with the latest trends and findings in their specialities. Additionally, education on genetics in healthcare is needed for the public. As one person interviewed said: The public watches CSI and thinks the use of DNA and genetics is black and white; using genetics in healthcare is rarely black and white

2. The lack of sufficient genetic counsellors. Genetic counsellors are often used to engage patients prior to testing and after results have been received, providing them with the detailed and nuanced information required for many of these tests. They also support doctors when they need assistance in making decisions about genetic testing and understanding the test results.

3. To successfully embed genetics into your care, doctors need the workflows for genetic testing (receiving results and understanding the impact on their care plans) to become a seamless part of their work. Clinical decision support software for genetics should alert the healthcare provider when genetic testing is merited with a patient, based on information the provider has entered during their examination. The software should then provide a list of appropriate tests and an explanation of why one might be used over another. After doctors order the test, they believe is most appropriate, the system should inform them of the results in clear, easily understandable language. The results should inform the doctor if the care plan for this patient should be modified (with suggestions for how the care should change).

4. Coverage of payments for genetic testing. If such tests are not paid for by insurers or government healthcare agencies (the payers), doctors simply wont order them. In the US and many other countries, there is patchwork coverage for genetic testing. Some tests are covered under specific circumstances, but many are not covered at all. The major reason cited by the payers for not covering genetic testing is a lack of evidence of clinical efficacy. In other words, do these tests provide actionable information, that your doctor can use to ensure better health outcomes? Until the payers see sufficient evidence of clinical efficacy, they will be hesitant to pay for many types of genetic testing. Doctors are concerned about the same thing, according to my research. They want to see the use of these tests in large populations, so they can determine that there is a benefit to using them.

Using your genetic information in healthcare is much more complex than taking a direct-to-consumer genetic test such as those offered by 23andMe. Healthcare is a multifaceted system and doctors already have too much on their plate. As such, there must be sufficient proof that the use of genetic testing will result in better health outcomes for the populations these clinicians serve before it's introduced into this setting.

We cannot hesitate in the face of the above complexities. As I completed the interviews which revealed these barriers, I stumbled across a journal article on this very subject. Written by a prominent group of doctors and researchers from government and leading universities in 2013, it highlights these same barriers and that virtually no progress has been made in the ensuing seven years. This is why I am focusing my fellowship at the World Economic Forum on a new project called Moving Genomics to the Clinic. Taking advantage of the multistakeholder platform of the Forum, the project will quicken the pace of tackling these barriers so that the use of genetic information can become a standard part of your healthcare experience.

License and Republishing

World Economic Forum articles may be republished in accordance with our Terms of Use.

Written by

Arthur Hermann, Fellow, Precision Medicine, World Economic Forum

The views expressed in this article are those of the author alone and not the World Economic Forum.

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How to bring precision medicine into the doctor's office - World Economic Forum

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Genetics just got personal. So boasted the website of 23andMe in 2008, just after launching its DNA testing service.

As we entered this decade, a small cohort of companies 23andMe, its Silicon Valley neighbor Navigenics, and Icelandic competitor deCODE Genetics were selling a future of personalized medicine: Patients would hold the keys to longer and healthier lives by understanding the risks written into their DNA and working with their doctors to reduce them.

We all carry this information, and if we bring it together and democratize it, we could really change health care, 23andMe cofounder Anne Wojcicki told Time magazine when it dubbed the companys DNA test 2008s invention of the year, beating out Elon Musks Tesla Roadster.

But in reality, the 2010s would be when genetics got social. As the decade comes to a close, few of us have discussed our genes with our doctors, but millions of us have uploaded our DNA profiles to online databases to fill in the details of our family trees, explore our ethnic roots, and find people who share overlapping sequences of DNA.

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Its become like Facebook for genes, driven by the same fundamental human desire to connect. And, as with Mark Zuckerbergs social media behemoth, this is the decade we reckoned with what it really means to hand over some of our most personal data in the process.

A 23andMe saliva collection kit for DNA testing.

It all panned out differently from the way I imagined in 2009, when I paid $985 to deCODE and $399 to 23andMe to put my DNA into the service of science journalism. (I spared my then-employer, New Scientist magazine, the $2,500 charge for the boutique service offered by Navigenics.)

I was intrigued by the potential of DNA testing for personalized medicine, but from the beginning, I was also concerned about privacy. I imagined a future in which people could steal our medical secrets by testing the DNA we leave lying around on discarded tissues and coffee cups. In 2009, a colleague and I showed that all it took to hack my genome in this way was a credit card, a private email account, a mailing address, and DNA testing companies willing to do business without asking questions.

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Much of the rest of what I wrote about DNA testing back then reflected pushback from leading geneticists who argued that the companies visions of personalized medicine werent ready for primetime.

As I explored the reports offered by 23andMe and deCODE, I couldnt help but agree especially when deCODE wrongly concluded that I carry two copies of a variant of a gene that would give me a 40% lifetime chance of developing Alzheimers. (Luckily, it wasnt cause for panic. Id pored over my DNA in enough detail by then to know that I carry only one copy, giving me a still-elevated but much less scary lifetime risk of about 13%.)

Despite such glitches, it still seemed that medicine was where the payoffs of mainstream genetic testing were going to be. As costs to sequence the entire genome plummeted, I expected gene-testing firms to switch from using gene chips that scan hundreds of thousands of genetic markers to new sequencing technology that would allow them to record all 3 billion letters of our DNA.

So in 2012, eager to provide our readers with a preview of what was to come, New Scientist paid $999 for me to have my exome sequenced in a pilot project offered by 23andMe. This is the 1.5% of the genome that is read to make proteins and is where the variants that affect our health are most likely to lurk.

Experts at the Medical College of Wisconsin in Milwaukee analyzed my exome. While they werent at that point able to tell me much of medical significance that I didnt already know, the article I wrote from the experience in 2013 predicted a future in which doctors would routinely scour their patients genomes for potential health problems and prescribe drugs that have been specifically designed to correct the biochemical pathways concerned.

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Im glad I included an important caveat: This may take several decades.

By then, the revolution promised by 23andMe and its competitors was faltering. Navigenics and deCODE had both been acquired by bigger companies and stopped selling DNA tests directly to the public.

23andMe, backed by the deep pockets of Google and other Silicon Valley investors, had enough cash to continue. But it fell foul of the FDA, which had decided that the company was selling medical devices that needed official approval to be put on the market. In a 2013 warning letter, the FDA said that 23andMe had failed to provide adequate evidence that its tests produced accurate results. By the end of 2013, 23andMe had stopped offering assessments of health risks to new customers.

Since then, the company has slowly clawed its way back into the business of health. In 2015, it was given FDA approval to tell customers whether they were carriers for a number of inherited diseases; in 2017, it started providing new customers with assessments of health risks once more.

I recently updated my 23andMe account, getting tested on the latest version of its chip. My results included reports on my genetic risk of experiencing 13 medical conditions. Back in 2013, there were more than 100 such reports, plus assessments of my likely responses to a couple dozen drugs.

In the lab, discovery has continued at a pace, but relatively few findings have found their way into the clinic.

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If youve recently been pregnant, you were probably offered blood tests to tell whether your fetus had a serious genetic abnormality. And if youve been diagnosed with cancer, a biopsy may have been sequenced to look for mutations that make some drugs a good bet and other ones a bust. Neither would have been common a decade ago.

But the wider health care revolution envisaged by Wojcicki remains far off.

A few weeks ago, I saw my doctor to discuss my moderately high blood cholesterol and had a conversation that Id once predicted would be common by now. I had signed up for a project called MyGeneRank, which took my 23andMe data and calculated my genetic risk of experiencing coronary artery disease based on 57 genetic markers, identified in a 2015 study involving more than 180,000 people.

My genetic risk turns out to be fairly low. After I pulled out my phone and showed my doctor the app detailing my results, we decided to hold off on taking a statin for now, while I make an effort to improve my diet and exercise more. But it was clear from her reaction that patients dont usually show up wanting to talk about their DNA.

We have all these naysayers and an immense body of research that is not being used to help patients, said Eric Topol, director of the Scripps Research Translational Institute in La Jolla, California, which runs the MyGeneRank project.

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Joseph James DeAngelo, the suspected "Golden State Killer," appears in court for his arraignment in Sacramento, April 27, 2018.

23andMes collision with the FDA wound up being a turning point in ways I didnt anticipate at the time. From the start, the company included an assessment of customers ancestries as part of the package. But after the FDA cracked down, it pivoted to make ancestry and finding genetic relatives its main focus. Offering the test at just $99, 23andMe went on a marketing blitz to expand its customer base competing with a new rival.

Ancestry.com launched its genome-scanning service in May 2012 and has since gone head-to-head with 23andMe through dueling TV ads and Black Friday discount deals.

DNA tests became an affordable stocking filler, as millions of customers were sold a journey of self-discovery and human connection. We were introduced to new genetic relatives. And we were told that the results might make us want to trade in our lederhosen for a kilt or connect us to distant African ancestors.

Today, Ancestrys database contains some 15 million DNA profiles; 23andMes more than 10 million. Family Tree DNA and MyHeritage, the two other main players, have about 3.5 million DNA profiles between them. And for the most dedicated family history enthusiasts, there is GEDmatch, where customers can upload DNA profiles from any of the main testing companies and look for potential relatives. It contains about 1.2 million DNA profiles.

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So far, so much fun. But DNA testing can reveal uncomfortable truths, too. Families have been torn apart by the discovery that the man they call Dad is not the biological father of his children. Home DNA tests can also be used to show that a relative is a rapist or a killer.

That possibility burst into the public consciousness in April 2018, with the arrest of Joseph James DeAngelo, alleged to be the Golden State Killer responsible for at least 13 killings and more than 50 rapes in the 1970s and 1980s. DeAngelo was finally tracked down after DNA left at the scene of a 1980 double murder was matched to people in GEDmatch who were the killer's third or fourth cousins. Through months of painstaking work, investigators working with the genealogist Barbara Rae-Venter built family trees that converged on DeAngelo.

Genealogists had long realized that databases like GEDmatch could be used in this way, but had been wary of working with law enforcement fearing that DNA test customers would object to the idea of cops searching their DNA profiles and rummaging around in their family trees.

But the Golden State Killers crimes were so heinous that the anticipated backlash initially failed to materialize. Indeed, a May 2018 survey of more than 1,500 US adults found that 80% backed police using public genealogy databases to solve violent crimes.

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I was very surprised with the Golden State Killer case how positive the reaction was across the board, CeCe Moore, a genealogist known for her appearances on TV, told BuzzFeed News a couple of months after DeAngelos arrest.

The new science of forensic genetic genealogy quickly became a burgeoning business, as a company in Virginia called Parabon NanoLabs, which already had access to more than 100 crime scene samples through its efforts to produce facial reconstructions from DNA, teamed up with Moore to work cold cases through genealogy.

Before long, Parabon and Moore were identifying suspected killers and rapists at the rate of about one a week. Intrigued, my editor and I decided to see how easy it would be to identify 10 BuzzFeed employees from their DNA profiles, mimicking Parabons methods. In the end, I found four through matches to their relatives DNA profiles and another two thanks to their distinctive ancestry. It was clear that genetic genealogy was already a powerful investigative tool and would only get more so as DNA databases continued to grow.

A backlash did come, however, after two developments revealed by BuzzFeed News in 2019. In January, Family Tree DNA disclosed that it had allowed the FBI to search its database for partial matches to crime-scene samples since the previous fall without telling its customers. I feel they have violated my trust, Leah Larkin, a genetic genealogist based in Livermore, California, told BuzzFeed News at the time.

Then, in May, BuzzFeed News reported that police in Centerville, Utah, had convinced Curtis Rogers, a retired Florida businessperson who cofounded GEDmatch, to breach the sites own terms and conditions, which were supposed to restrict law enforcement use to investigations of homicides or sexual assaults. That allowed Parabon to use matches in the database to identify the perpetrator of a violent assault.

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Larkin and other genealogists condemned the move, calling it the start of a slippery slope that would see the method being used to investigate more trivial crimes.

As barbs flew between genealogists working with law enforcement and those who advocate for genetic privacy, GEDmatch responded with new terms of service that extended the definition of violent crime, but also required users to explicitly opt in for their DNA profiles to be included in law enforcement searches.

Overnight, GEDmatch became useless for criminal investigations. Since then, the number of users opting in for matching to crime-scene samples has slowly increased, and now stands at more than 200,000. But progress in cracking criminal cases has remained slow.

Now that cops have seen the power of forensic genetic genealogy, however, they dont want to let it go. In November, the New York Times revealed that a detective in Florida had obtained a warrant to search the entirety of GEDmatch, regardless of opt-ins. It seems only a matter of time before someone tries to serve a warrant to search the huge databases of 23andMe or Ancestry, which dont give cops access sparking legal battles that could go all the way to the Supreme Court.

Genetic privacy, barely mentioned as millions of us signed up to connect with family across the world and dig into our ancestral roots, is suddenly front and center.

This week, Rogers and the other cofounder of GEDmatch, John Olson, removed themselves from the heat when they sold GEDmatch to Verogen, a company in San Diego that makes equipment to sequence crime-scene DNA. Verogen CEO Brett Williams told BuzzFeed News that he sees a business opportunity in charging police for access to the database but promised to respect users privacy. Were not going to force people to opt in, he said.

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But it isnt just whether cops can run searches against your DNA. 23andMe may not share your information with law enforcement, but customers are asked when they signed up whether if they are OK with their de-identified DNA being used for genetic research.

It might not be obvious when you fill in the consent form, but this lies at the heart of 23andMes business model. The reason the company pushed so hard to expand its database of DNA profiles is to use this data in research to develop new drugs, either by itself or by striking deals with pharmaceutical companies.

Ancestry has also asked its users to consent to participate in research, teaming up with partners that have included Calico, a Google spinoff researching ways to extend human lifespan.

You might be comfortable with all of this. You might not. You should definitely think about it because when the information is your own DNA, there really is no such thing as de-identified data.

That DNA profile is inextricably tied to your identity. It might be stripped of your name and decoupled from the credit card you used to pay for the test. But as 23andMe warns in its privacy policy: In the event of a data breach it is possible that your data could be associated with your identity, which could be used against your interests.

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And because you share a large part of your genome with close relatives, when you put your DNA profile into a companys database, you arent only making a decision for yourself: Their privacy is on the line, too.

Whether its due to concerns about privacy, a saturated market, or just that the novelty has worn off, sales of DNA ancestry tests are slowing. Ancestry has responded by offering a new product focused on health risks. Unlike 23andMe, it requires that tests are ordered through PWNHealth, a national network of doctors and genetic counselors.

Will this be the development that takes us back to the future I once imagined? Maybe so, but if the roller coaster of the past decade has taught me anything, its to be wary about making any predictions about our genetic future.

Peter Aldhous is a Science Reporter for BuzzFeed News and is based in San Francisco.

Contact Peter Aldhous at peter.aldhous@buzzfeed.com.

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10 Years Ago, DNA Tests Were The Future Of Medicine. Now Theyre A Social Network And A Data Privacy Mess. - BuzzFeed News

Youve likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.

Even if you dont find a DNA testing kit under your own Christmas tree, theres a good chance someone you know will.

Whether youre motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work before you spit in the tube.

While exciting, there are things that these genetic testing kits cannot tell users and important personal implications that consumers should consider.

Health, traits and ancestry kits

My main area of research is around clinical genome sequencing, where we look through all of a persons DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits.

The most popular ancestry kit is from AncestryDNA. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is Living DNA, which has a smaller dataset but provides more precise information on the U.K. and Ireland.

The most popular health kit is from 23andMe. Depending on the users preference, results include information on predispositions for diseases such as diabetes and Alzheimers, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that dont provide health information. The kit offered by the newer MyHeritage DNA also provides a combined ancestry and health option.

There are other kits out there claiming to evaluate everything from athletic potential to relationship compatibility. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.

How these tests work

For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis.

During this analysis, these popular tests do not look at the entire genome. Instead, they employ single nucleotide polymorphism (SNP) genotyping. As humans we all share 99.9 per cent of our DNA. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to survey the users genome.

These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, its because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled Southeast Asian. The same goes for traits and health conditions.

How they differ from clinical tests

Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases.

In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes genetic counselling that is often key to understanding results.

In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs.

Users may interpret a result as positive, when the risk increase is only minimal, or entirely false. These tests can also give false reassurance because they do not sequence genes in their entirety and can miss potentially harmful variants.

Before you spit in a tube, stop and think

These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. Theyre also helping to build vast genetic databases from which medical research will be conducted.

But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: identical twins can receive different results. Furthermore, a lack of diversity in the reference data has caused particular concern regarding accuracy of results for ethnic minorities.

There are also concerns about the way these tests emphasize racial categories that science considers to be social constructs and biologically meaningless.

A recent paper in the British Medical Journal suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information they would rather not know.

Users should also consider issues around security and privacy. It is important to read the fine print of the service youre using, and determine whether youre comfortable sharing personal information, now and in the future.

In Canada, policies around genetics have not always kept up with the science. At present, direct-to-consumer genetic testing is unregulated. And, although Canadians have legislative protections against genetic discrimination, those laws are being challenged in the courts, and could change.

Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family.

Bottom line: Its all for fun

Some users may feel they learn more about themselves. For others, results may bring people closer together not a bad outcome for the holiday season.

At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way.

If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional.

Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie University

This article is republished from The Conversation under a Creative Commons license.

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DNA tests make fun holiday gifts, but beware of the hype - Salon

This week, GEDmatch, a genetic genealogy company that gained notoriety for giving law enforcement access to its customers DNA data, quietly informed its users it is now operated by Verogen, Inc., a company expressly formed two years ago to market next-generation [DNA] sequencing technology to crime labs.

What this means for GEDmatchs 1.3 million users and for the 60% of white Americans who share DNA with those users remains to be seen.

GEDmatch allows users to upload an electronic file containing their raw genotyped DNA data so that they can compare it to other users data to find biological family relationships. It estimates how close or distant those relationships may be (e.g., a direct connection, like a parent, or a distant connection, like a third cousin), and it enables users to determine where, along each chromosome, their DNA may be similar to another user. It also predicts characteristics like ethnicity.

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An estimated 30 million people have used genetic genealogy databases like GEDmatch to identify biological relatives and build a family tree, and law enforcement officers have been capitalizing on all that freely available data in criminal investigations. Estimates are that genetic genealogy sites were used in around 200 cases just last year. For many of those cases, officers never sought a warrant or any legal process at all.

Earlier this year, after public outcry, GEDmatch changed its previous position allowing for warrantless law enforcement searches, opted out all its users from those searches, and required all users to expressly opt in if they wanted to allow access to their genetic data. Only a small percentage did. But opting out has not prevented law enforcement from accessing consumers genetic data, as long as they can get a warrant, which one Orlando, Florida officer did last summer.

Law enforcement has argued that people using genetic genealogy services have no expectation of privacy in their genetic data because users have willingly shared their data with the genetics company and with other users and have consented to a companys terms of service. But the Supreme Court rejected a similar argument in Carpenter v. United States.

In Carpenter, the Court ruled that even though our cell phone location data is shared with or stored by a phone company, we still have a reasonable expectation of privacy in it because of all the sensitive and private information it can reveal about our lives. Similarly, genetic data can reveal a whole host of extremely private and sensitive information about people, from their likelihood to inherit specific diseases to where their ancestors are from to whether they have a sister or brother they never knew about. Researchers have even theorized at one time or another that DNA may predict race, intelligence, criminality, sexual orientation, and political ideology. Even if later disproved, officials may rely on outdated research like this to make judgements about and discriminate against people. Because genetic data is so sensitive, we have an expectation of privacy in it, even if other people can access it.

However, whether individual users of genetic genealogy databases have consented to law enforcement searches is somewhat beside the point. In all cases that we know of so far, law enforcement isnt looking for the person who uploaded their DNA to a consumer site, they are looking for that persons distant relatives people who never could have consented to this kind of use of their genetic data because they dont have any control over the DNA they happen to share with the sites users.

That means these searches are nothing more than fishing expeditions through millions of innocent peoples DNA. They are not targeted at finding specific users or based on individualized suspicion a fact the police admit because they dont know who their suspect is. They are supported only by the hope that a crime scene sample might somehow be genetically linked to DNA submitted to a genetic genealogy database by a distant relative, which might give officers a lead in a case. Theres a real question whether a warrant that allows this kind of search could ever meet the particularity requirements of the Fourth Amendment.

These are also dragnet searches, conducted under general warrants, and no different from officers searching every house in a town with a population of 1.3 million on the off chance that one of those houses could contain evidence useful to finding the perpetrator of a crime. With or without a warrant, the Fourth Amendment prohibits searches like this in the physical world, and it should prohibit genetic dragnets like this one as well.

We need to think long and hard as a society about whether law enforcement should be allowed to access genetic genealogy databases at all even with a warrant. These searches impact millions of Americans. Although GEDmatch likely only encompasses about 0.5% of the U.S. adult population, research shows 60% of white Americans can already be identified from its 1.3 million users. This same research shows that once GEDmatchs users encompass just 2% of the U.S. population, 90% of white Americans will be identifiable.

Although many authorities once argued these kinds of searches would only be used as a way to solve cold cases involving the most terrible and serious crimes, that is changing; this year, police used genetic genealogy to implicate a teenager for a sexual assault. Next year it could be used to identify political or environmental protestors. Unlike established criminal DNA databases like the FBIs CODIS database, there are currently few rules governing how and when genetic genealogy searching may be used.

We should worry about these searches for another reason: they can implicate people for crimes they didnt commit. Although police used genetic searching to finally identify the man they believe is the Golden State Killer, an earlier search in the same case identified a different person. In 2015, a similar search in a different case led police to suspect an innocent man. Even without genetic genealogy searches, DNA matches may lead officers to suspect and jail the wrong person, as happened in a California case in 2012. That can happen because we shed DNA constantly and because our DNA may be transferred from one location to another, possibly ending up at the scene of a crime, even if we were never there.

All of this is made even more concerning by the recent acquisition of GEDmatch by a company whose main purpose is to help the police solve crimes. The ability to research family history and disease risk shouldnt carry the threat that our data will be accessible to police or others and used in ways we never could have foreseen. Genetic genealogy searches by law enforcement invade our privacy in unique ways they allow law enforcement to access information about us that we may not even know ourselves, that we have no ability to hide, and that could reveal more about us in the future than scientists know now. These searches should never be allowed even with a warrant.

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Genetic Testing Company Acquired by Company With Ties to FBI and Law Enforcement - Truthout

A genetic variant found in about 3% of people of African ancestry is a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers at Penn Medicine. The researchers also found that this type of heart failure is underdiagnosed. According to their study, 44% of TTR V122Ivariant carriers older than age 50 had heart failure, but only 11% of these individuals had been diagnosed with hATTR-CM. The average time to diagnosis was three years, indicating both high rates of underdiagnoses and prolonged time to appropriate diagnosis

This study suggests that workup for amyloid cardiomyopathy and genetic testing of TTR should be considered, when appropriate, to identify patients at risk for the disease and intervene before they develop more severe symptoms or heart failure, said the studys lead author Scott Damrauer, M.D., an assistant professor of Surgery at Penn Medicine and a vascular surgeon at the Corporal Michael J. Crescenz VA Medical Center. (Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania and the University of Pennsylvania Health System.)

In this study, researchers from Penn Medicine and the Icahn School of Medicine at Mount Sinai used a genome-first approach, performing DNA sequencing of 9,694 individuals of African and Latino ancestry enrolled in either the Penn Medicine BioBank (PMBB) or the Icahn School of Medicine at Mount Sinai BioMe biobank (BioMe). Researchers identified TTR V122I carriers and then examined longitudinal electronic health record-linked genetic data to determine which of the carriers had evidence of heart failure.

The findings, which were published today in JAMA, are particularly important given the US Food and Drug Administrations (FDA) approval of the first therapy (tafamidis) for ATTR-CM in May 2019. Prior to tafamidiss approval, treatment was largely limited to supportive care for heart failure symptoms and, in rare cases, heart transplant.

Our findings suggest that hATTR-CM is a more common cause of heart failure than its perceived to be, and that physicians are not sufficiently considering the diagnosis in certain patients who present with heart failure, said the studys corresponding author Daniel J. Rader, M.D., chair of the Department of Genetics at Penn Medicine. With the recent advances in treatment, its critical to identify patients at risk for the disease and, when appropriate, perform the necessary testing to produce an earlier diagnosis and make the effective therapy available.

hATTR-CM, also known as cardiac amyloidosis, typically manifests in older patients and is caused by the buildup of abnormal deposits of a specific transthyretin protein known as amyloid in the walls of the heart. The heart walls become stiff, resulting in the inability of the left ventricle to properly relax and adequately pump blood out of the heart. However, this type of heart failurewhich presents similar to hypertensive heart disease is common, and the diagnosis of hATTR-CM is often not considered.

Tafamidis meglumine is a non-NSAID benzoxazole derivative that binds to TTR with high affinity and selectivity. TTR acts by transporting the retinol-binding protein-vitamin A complex. It is also a minor transporter of thyroxine in blood. Its tetrameric structure can become amyloidogenic by undergoing rate-limiting dissociation and monomer misfolding.

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Penn Team Finds Genetic Variant Largely Found in Patients of African Descent that Increases Heart Failure Risk - Clinical OMICs News

Starting Jan. 1, 2020, Illinois residents genetic testing results will be protected. Bertino-Tarrant (D-Shorewood) championed House Bill 2189, which prohibits companies that provide direct-to-consumer commercial genetic testing such as ancestry.com and 23andMe, from sharing any test results with health or life insurance companies without the consumers consent.

In the last couple of years, genetic testing has will remain private as they make informed decisions to manage their health care.

The number of people who have had their DNA analyzed with direct-to-consumer genetic genealogy tests more than doubled during 2017 and exceeded 12 million in 2018. Last year, an estimated 1 in 25 American adults now have access to personal genetic data.

We have the responsibility to ensure personal data is used ethically, Bertino-Tarrant said. As technology evolves it is imperative that laws advance with the needs of the people of our state.

Representative Natalie Manley (D-Joliet) was the lead sponsor in the House.

House Bill 2189 passed the Senate and House with bipartisan support. The measure was signed into law in July.

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Consumers protected across Will County - The Times Weekly

As these clinical tests became more common, scientists were also busy trying to drill deeper into the substance of DNA, the chemical structure of which had only been deciphered in 1953 by James Watson, Francis Crick, and Rosalind Franklin. Over the next few decades, scientists would come to understand that its helix-shaped pattern of paired basesadenine, thymine, cytosine, and guaninefunctioned like letters, spelling out words that a cell would decode into amino acids, the building blocks of proteins. They would also begin to realize that most of the human genomeabout 98 percentdoesnt actually code for proteins. In the '70s, junk DNA became the popularized term for these nonfunctional sections.

Not long after, in 1984, a British geneticist named Alec Jeffreys stumbled upon a use for all that so-called junk DNA: crime-fighting. In these regions of the genome, the DNA molecule tends to duplicate itself, like its stuttering over the same word over and over again. Scientists can capture and count these stutters, known as short tandem repeats. And because the number of STRs a person has at various locations is unique to them, they can be used to build a personally identifiable profile, or DNA fingerprint.

Genetic Testing Glossary

GenotypingTesting technology, often chip-based, that generates a partial list of your unique genetic differences.

Whole-genome sequencingA method used to determine the exact sequence of your entire genome, all 6.4 billion letters.

Whole-exome sequencingA method used to determine the exact sequence of the protein-coding portion of your genome, comprising about 22,000 genes.

Coverage/DepthA measure of how many times a DNA sequence has been proofread. 30X average depth of coverage is the benchmark of a high-quality sequence.

VariantA generic term referring to places in someones genome that differ from a reference genome

Single Nucleotide Polymorphism (SNP)A variant defined by a single letter change

Polygenic Score (PGS)An algorithm that adds up the effects of multiple variants to predict the likelihood of a physical or behavioral trait based on your DNA.

Preimplantation Genetic Diagnosis (PGD)A method for testing IVF embryos for genetic defects prior to starting a pregnancy.

Non-Invasive Prenatal TestingA method for screening a fetus for certain genetic disorders by testing the mothers blood. Confirming a diagnosis requires more invasive procedures.

Carrier ScreenA test used to find out if you carry any genes for disorders that you could pass on to your children.

Short Tandem Repeat (STR)A pattern of repeating sequences in the noncoding part of your genome used in forensic DNA testing

CODISA national database of genetic profiles collected from criminals and crime scenes, maintained by the US government.

In 1987, this technique was used for the first time in a police investigation, leading to the arrest and conviction of Colin Pitchfork for the rape and murder of two young women in the UK. That same year, Tommie Lee Andrews, who raped and stabbed to death a woman in Florida, became the first person in the US to be convicted as a result of DNA evidence. Since then, forensic DNA testing has put millions of criminals behind bars. In 1994, Congress signed the DNA Identification Act, giving the US Federal Bureau of Investigation authority to maintain a national database of genetic profiles collected from criminal offenders. As of September 2019, this database, known as CODIS, contains DNA from nearly 14 million people convicted of crimes, as well as 3.7 million arrestees, and 973,000 samples gathered at crime scenes.

Throughout the '80s and '90s, while cops were rushing to use DNA to catch rapists and murderers, geneticists were slowly doing detective work of their own. By linking health records, family pedigrees, disease registries, and STR locations and lengths, scientific sleuths painstakingly began to map traits onto chromosomes, eventually identifying the genes responsible for a number of inherited conditions, including Huntingtons disease, cystic fibrosis, and sickle-cell anemia. These diseases linked to single genes, so-called monogenic conditions, are basically binaryif you have the genetic mutation youre almost certain to develop the disease. And once the sequences for these faulty genes were revealed, it wasnt too hard to test for their presence. All you had to do was design a probea single strand of DNA attached to a signal molecule, that would send out a fluorescent burst or some other chemical flare when it found its matching sequence.

As the new millennium approached, companies were beginning to pilot such tests in various clinical settings, i.e. with a doctors order. That included testing amniotic fluid as part of prenatal screening, testing the blood of prospective parents (whats known as carrier screening), and testing the cells of embryos created by in vitro fertilization, in a process called pre-implantation diagnosis. These tests were expensive and targeted only at people with family histories of so-called monogenic diseases. Developing tests to assess a healthy persons risk of developing more complex conditions caused by the interaction of multiple genesthings like heart disease, diabetes, and cancerwould require a more detailed map of human DNA than the fragmented picture scientists had so far decoded. Luckily, that was just around the corner.

In 2000, a rough draft of the human genome sequence was made freely available online, followed three years later by a more complete, high-resolution version. With it, scientists and engineers now had enough information to load up chips with not one or two DNA probes but thousands, even hundreds of thousands. These microarrays made it possible to simultaneously scan a persons genome for thousands of SNPs, or single nucleotide polymorphismssingle changes in the arrangement of DNA letters that make people unique. These SNPs, or variants as theyre alternatively known, can be tallied up to rank a persons susceptibility to various illnesses.

And because this SNP snapshot technology, known as genotyping, could be done much cheaper than full sequencingin 2006 it cost $1,000 as opposed to $1 million for a full-genome scanit launched not only a new wave of research but a new industry: direct-to-consumer DNA testing.

Starting in the mid-2000s, dozens of companies began selling people a new genetic experience that didnt have to take place in a doctors office. They would take a sample of your DNAa few laboriously salivated milliliters of drool sent through the mailscan it, and peer into your ancestral past as well as forecast your genetic future. In the early days, these tests could provide only a limited amount of information. And many companies went under while waiting for researchers to amass more knowledge about the links between certain genes and human traits. But one deep-pocketed Silicon Valley startup weathered the creeping adoption curve (and a spat with the US Food and Drug Administration) to become synonymous with the retail genomics business: 23andMe.

Today though, as costs sink even further and the internet makes the exchange of cheek cells for genetic insights virtually frictionless, 23andMe again has plenty of competition. A recent study identified nearly 250 companies offering DNA tests that people can buy online. Most of these are tests for disease predisposition, ancestry, and paternity. But others offer biological inheritance as infotainmenttests offering matchmaking services, predicting childrens talents, recommending the right diet, or even identifying wines you might be genetically inclined to enjoy.

Customers should be aware though, that many of these recreational tests offer results with little relationship to realitythe science is still just too premature to be truly predictive for most complicated traits. They might be fun, but dont take them too seriously. (And if you care about genetic privacy, dont take them at all!) Even the more medically focused tests, like 23andMes health reports, should be taken with a grain of salt. Its testing formula for breast cancer risk, for example, is built around just three genetic variants in the BRCA genes, common in Ashkenazi Jewish populations and known to be associated with cancer. But there are thousands of other variants in those genes that can also raise your risk of breast cancer. Its just that 23andMes DNA chip isnt set up to capture them. In other words, a clean bill of health from 23andMe shouldnt be taken as definitive. The company emphasizes that its tests are probability readings, theyre not meant to be diagnostic. So if anything does come up, you still have to go see a doctor for confirmatory clinical testing.

Link:
What Is Genetic Testing? The Complete WIRED Guide - WIRED

In these times of alarming disregard for scientific data (were talking to you, climate change deniers), lets hear it for science, specifically the astonishing gains made in the field of genetics and genetic testing.

Our three-part Past Lives series highlights the extraordinary resources now readily available to anyone curious about their family ancestry. Easy access to family records on the internet and the mapping of the human genome allows us to peer into our genetic past to learn more about who we are. And we can do both kinds of research from the comfort of our own homes.

For Jews, this has been a blessing for the most part. Unlike those Americans descended from Western European populations who can turn to comprehensive written archives, such as baptismal and marriage records, most Ashkenazi Jews like African Americans and Hispanic Americans lack the paper trail to trace their ancestry back further than a few generations.

Now, with the evolution of genetic testing, we can pinpoint to a remarkable degree of precision the composition of our ethnicity and where we came from. And all it takes is a simple cheek swab.

For some, discovering Jewish roots opens the door to new connections and layers of spiritual meaning.

As our stories show, this technology is about more than percentages and places on the map. For some, discovering the very existence of Jewish roots is a personal marvel, opening the door to new connections and layers of spiritual meaning.

However, as with any technology, ethical concerns run rampant.

Are we now as a global kehillah to rely on DNA test results as a proving ground for belonging to the Jewish people? What about those who convert to Judaism and might hail from different backgrounds? When their DNA pie chart comes back with zero percent Jewishness, does that mean they are any less Jewish?

Though matrilineal descent long ago enshrined a genetic aspect to Judaism, have we not seen enough of eugenics, racism, white nationalism and hate-fueled violence to check a rush to embrace anything that smacks of genetic purity?

These concerns have come to the forefront in Israel, where for the past two years the Chief Rabbinate has been using genetic testing to confirm the Jewishness of immigrants from the former Soviet Union seeking marriage licenses, in cases where the applicants dont have sufficient documentation of their status. Dozens of young couples, and their close relatives, have been humiliated in this way, and the practice is now being challenged before Israels High Court, brought there by the largely immigrant Yisrael Beiteinu party.

Scientific discoveries often involve thorny ethical questions. They must be faced openly.

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The thrill of genetic genealogical discoveries should be tempered by ethical concerns - The Jewish News of Northern California

IRVING, Texas and ALISO VIEJO, Calif., Dec. 4, 2019 /PRNewswire/ --Caris Life Sciences, a leading innovator in molecular science focused on fulfilling the promise of precision medicine, and Ambry Genetics(Ambry), a leading clinical genetic testing company, today announced that Caris will begin offering Ambry's 67-gene CancerNext-Expanded panel to evaluate the hereditary risks for cancer. Combined with Caris' somatic (tumor) tests that analyze a cancer's detailed molecular makeup, Caris will provide patients and their healthcare providers unparalleled information to more accurately diagnose and treat cancer. This will be the most comprehensive, clinically relevant molecular and genetic offering on the market today to guide treatment and management of cancer.

"We are committed to providing clinicians with high-quality information they can use to inform treatment decisions," said David D. Halbert, Caris Life Sciences Chairman, Chief Executive Officer and Founder. "By partnering with Ambry Genetics to better inform patient care, we are able to provide clinicians a greater ability to learn about a cancer's molecular composition."

Caris currently offers clinicians Caris Molecular Intelligence, a proprietary, comprehensive tumor profiling approach that assesses DNA, RNA, and proteins unique to an individual's cancer to reveal a molecular blueprint in order to guide more precise and individualized treatment decisions.

Through the partnership, Caris will now offer Ambry's CancerNext-Expanded hereditary cancer panel. This panel analyzes 67 genes associated with an increased hereditary risk of cancer, including brain, breast, colon, ovarian, pancreatic, prostate, renal, uterine, and many other cancers. Its comprehensive testing identifies inherited risks for cancer in order for clinicians to accurately diagnose, treat, and manage cancer risks for each patient's needs.

"To best diagnose and treat cancer, clinicians must understand whether patients have mutations in genes associated with an increased risk for hereditary cancer," said Aaron Elliott, Chief Executive Officer of Ambry. "Caris' molecular tests combined with Ambry's germline genetic testing, give clinicians the most comprehensive, clinically relevant molecular profile on the market to guide treatment and management."

The combined Caris and Ambry testing is now available nationwide.

"Being able to simultaneously conduct comprehensive tumor genomic testing and multi-gene germline sequencing is invaluable, especially for sick patients at the beginning of their cancer journey," said Michael J. Hall, M.D., M.S., Chair, Department of Clinical Genetics at Fox Chase Cancer Center. "This is information I can immediately begin using for my patients to more accurately diagnose them and to better individualize their treatments."

About Caris Life Sciences Caris Life Sciences is a leading innovator in molecular science focused on fulfilling the promise of precision medicine through quality and innovation. The company's suite of market-leading molecular profiling offerings assesses DNA, RNA and proteins to reveal a molecular blueprint that helps physicians and cancer patients make more precise and personalized treatment decisions.

Caris is also advancing precision medicine with Next Generation Profiling that combines its innovative service offerings, Caris Molecular Intelligence and ADAPT Biotargeting System, with its proprietary artificial intelligence analytics engine, DEAN, to analyze the whole exome, whole transcriptome and complete cancer proteome. This information, coupled with mature clinical outcomes on thousands of patients, provides unmatched molecular solutions for patients, physicians, payers and biopharmaceutical organizations.

Whole transcriptome sequencing with MI Transcriptome provides the most comprehensive and unique RNA analysis available on the market and covers all 22,000 genes, with an average of 60 million reads per patient, to deliver extremely broad coverage and high resolution into the dynamic nature of the transcriptome. Assessing the whole transcriptome allows us to dig deeper into the RNA universe to uncover and detect fusions, splice variants, and expression changes that provide oncologists with more insight and actionable information when determining treatment plans for patients.

Caris Pharmatech, a pioneer of the original Just-In-Time research system with the largest research-ready oncology network, is changing the paradigm from the traditional physician outreach model to a real-time approach where patient identification is completed at the lab and the physician is informed so that the patient can be enrolled days earlier, and remain in the local physician's care, without having to travel to a large central trial site. This fundamentally redefines how pharmaceutical and biotechnology companies identify and rapidly enroll patients in precision oncology trials by combining Caris' highest quality industry leading large-scale molecular profiling services with Pharmatech's on-demand site activation and patient enrollment system.

Headquartered in Irving, Texas, Caris Life Sciences offers services throughout the U.S., Europe, Asia and other international markets. To learn more, please visitwww.CarisLifeSciences.comor follow us on Twitter (@CarisLS).

About Ambry GeneticsAmbry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visitambrygen.com.

Caris Company Contact & Media:Srikant RamaswamiVice President, Chief Communications Officersramaswami@carisls.com +1-214-769-5510

Ambry Genetics Media Contact:Liz Squirepress@ambrygen.com (202) 617-4662

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Caris Life Sciences and Ambry Genetics Partner to Advance Cancer Care - BioSpace

DUBLIN, Dec. 4, 2019 /PRNewswire/ -- The "Global Hematologic Malignancies Testing Market: Focus on Product, Disease, Technology, End User, Region/Country Data and Competitive Landscape - Analysis and Forecast, 2019-2025" report has been added to ResearchAndMarkets.com's offering.

The market to grow at a significant CAGR of 15.24% during the forecast period, 2019-2025.

Growth in this market is driven by the rising incidence of hematologic malignancies, increasing adoption of inorganic growth strategies in the market, favorable reimbursement scenario in the global hematologic malignancies testing market, and increasing funding in hematologic malignancies testing market. The massive scope in the emerging economies and technological advancements in the field of molecular diagnostics are also expected to provide growth opportunities for players in the market.

The molecular discovery of disease-causing genes in blood cancers has led to the global phenomenon known as precision diagnostics in hematologic malignancies. By understanding the underlying molecular mechanisms of diseases and genetic composition and regulation in humans, molecular diagnostics have empowered physicians to move away from broadly classifying patients according to diseases, shifting toward individualized treatment, with the adoption of specialized kits, and services aimed at an early screening of disease.

The global hematologic malignancies testing market has witnessed significant growth, attributing to the increasing demand for multiple biomarker based-molecular diagnostics. The developments have been instrumental in improving the quality of life and reducing the cost and time of treatment, boosting the growth of the overall healthcare diagnostics market. Further, the increasing awareness and adoption of the precision diagnostic approach in developed as well as developing countries is the key driver for the growth of the global hematologic malignancies testing market.

The evolution of new technologies is enabling the acquisition of more information for more exhaustive characterization of the disease state, the most suitable treatment alternatives for a patient, or in the case of blood cancer, the rapid identification of a specific gene that could be responsible for a particular carcinoma.

Approaches that have the potential to address this requirement for highly increasing amounts of data include multi-marker or multiplexed approaches (methods that can test for multiple biomarkers in a single assay) and gene sequencing that enable the detection of multiple defects that are associated with a particular subset of patients with a disease. The practical application of these methods can be challenging owing to the complexity of the involved assays.

Key Questions Answered in this Report:

Key Topics Covered:

Executive Summary

1 Market Overview1.1 Introduction1.2 Historical Perspective1.3 Types of Hematologic Malignancy Diagnostic Tests1.4 Global Footprint1.5 Trends and Future Potential

2 Market Dynamics2.1 Market Drivers2.1.1 Rising Incidence of Hematologic Malignancies2.1.2 Increasing Adoption of Inorganic Growth Strategies in the Market2.1.3 Favorable Reimbursement Scenario in the Global Hematologic Malignancies Testing Market2.1.4 Increase in Funding in Hematologic Malignancies Testing Market2.2 Restraints2.2.1 High Pricing Pressure2.2.2 Lack of Trained Professionals2.2.3 Issues Pertaining to the Analytical Validity of Genetic Testing for Cancers2.3 Market Opportunities2.3.1 Opportunities in the Emerging Economies2.3.2 Technological Advancements in the Field of Molecular Diagnostics

3 Competitive Landscape3.1 Key Strategies and Developments3.2 Product Scenario3.3 Funding Scenario3.4 Market Share Analysis3.5 Growth Share Analysis (Opportunity Mapping)3.6 Comprehensive Competitive Index

4 Industry Insights4.1 Regulatory Framework4.1.1 Legal Requirements and Framework in the U.S.4.1.2 Legal Requirements and Framework in Europe4.1.3 Legal Requirements and Framework in Asia-Pacific4.1.3.1 Japan4.1.3.2 China4.2 Reimbursement Scenario4.3 Physicians' Perceptions

5 Global Hematologic Malignancies Testing Market (by Product)5.1 Services5.2 Kits5.2.1 Gene Panels5.2.2 Molecular Clonality Testing5.2.3 Translocation Testing5.2.4 Mutation Testing5.2.5 Minimal Residual Disease (MRD) Testing

6 Global Hematologic Malignancies Testing Market (by Disease)6.1 Leukemia6.2 Lymphoma6.3 Multiple Myeloma6.4 Myeloproliferative Neoplasms6.5 Myelodysplastic Syndromes

7 Global Hematologic Malignancies Testing Market (by Technology)7.1 Next-Generation Sequencing (NGS)7.2 Polymerase Chain Reaction (PCR)7.3 Fluorescence in Situ Hybridization (FISH)7.4 Immunohistochemistry (IHC)7.5 Flow Cytometry7.6 Other Technologies

8 Global Hematologic Malignancies Testing Market (by End User)8.1 Specialty Clinics and Hospitals8.2 Diagnostic Laboratories8.3 Reference Laboratories8.4 Research Institutions

9 Global Hematologic Malignancies Testing Market (by Region)

10 Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/r9y3z8

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Global Hematologic Malignancies Testing Market 2019-2025: Increasing Adoption of Inorganic Growth Strategies in the Market - P&T Community