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Archive for the ‘Genetic Testing’ Category

Is genome sequencing the answer to rare diseases? – Hyderus Cyf

Rare diseases despite the infrequency that the name confers cumulatively affect around 350 million people worldwide. This figure includes roughly seventy million Indians. Could genome sequencing prove to be the tool that begins to spark medical innovation and diagnosis for the millions affected by such disorders?

The Economic Times notes a recent case in which genome sequencing has proven to be an effective means of diagnosis for conditions classified as rare diseases. A woman, who was at the time three months pregnant, came to see a paediatrician at Government Medical College in Kozhikode wanting to know if there was a way to find out if her unborn child could develop a rare immune disease her firstborn was suffering from.

The article notes that the white blood cells in her six year-old daughters body behaved abnormally, leading to organ infections and rimpaired growth. Doctors, so far, had been unable to cure the girl, she said. While the name of the condition is never revealed in the article, many rare diseases also fall under the categorisation of autoimmune disorders, such as Ashersons syndrome.

The woman underwent an antenatal procedure to retrieve genetic material from the unborn child. This was analysed and compared to genetic testing performed on the six-year-old daughter. The tests brought the welcome news that the womans baby would not have the same genetic disorder as her previous child.

This test had the luxury of comparing directly to a relative. However, most testing has to be compared to databases with one major drawback. No reliable genetic information of Indians is available and for research, our scientists have to rely on gene data banks from the US and the UK or of Caucasians, said Council of Scientific and Industrial Research (CSIR) director-general Shekhar C. Mande.

As of now, Indian genomes only represent 0.2 percent of the global genetic databanks. The current majority of genomes around 96 percent are of European ancestry. Ignoring the study of Indian genes leaves what could be a medical goldmine all but untapped.

Previous genomic studies conducted in India have uncovered genes exclusive to the Indian population that present a unique risk in developing diabetes. Knowledge of risks such as these can allow for the Indian medical system, as well as government policy, to be better informed when making decisions regarding disease prevention and treatment.

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Is genome sequencing the answer to rare diseases? - Hyderus Cyf

Q: What do I need to know before trying for a baby? – The Canberra Times

life-style, life,

For the average couple, we give the lifestyle advice to stop smoking and to cease drinking alcohol when trying to conceive. Ensuring you have a healthy diet and are exercising regularly are also important. These general changes will improve the chance of getting pregnant and will give you a much less complicated pregnancy. Achieving a healthy weight before pregnancy is very important in improving ovulation and increasing the chance of spontaneous conception. For men, a healthy weight will improve the quality of his sperm. For women it will help them to have a healthier pregnancy (such as reducing the chance of developing gestational diabetes) and assist with easier delivery and recovery. We also need to consider those with underlying medical problems such as diabetes, high blood pressure and epilepsy. It is always advisable to make sure that they have those conditions well under control before they get pregnant. For example, uncontrolled diabetes can increase the chance of fetal anomaly, pre-eclampsia can also affect the placenta function and increase the risk of growth restriction. There are certain medications that are not safe to take when you are pregnant. It is advisable to review all your medications with your doctor to change to safe in pregnancy medication if possible. Pregnancy multivitamins and folic acid (which reduces the risk of neural tube defects) should be taken at least three months before you are planning to become pregnant, or as soon as possible once you do fall pregnant. Taking omega 3 does have lots of value in pregnancy. It helps the fetus brain development as well as reduce postpartum depression. You should see your doctor about checking things such as your iron level and thyroid function, which require a simple blood test. Your vaccination status also needs to be checked, because we want to make sure you are immune to certain things like measles, mumps and rubella. By doing this before you are pregnant, we have that opportunity to give you the appropriate vaccinations to make sure you are immune by the time you get pregnant. There has been more and more things in the media about genetic testing and what couples need to be aware of, so see your doctor for the correct advice because there's a lot of information available. Pre-pregnancy genetic testing While genetic testing is becoming more widely available, it is not vital unless you are at a high risk of passing on specific conditions. This could be couples with a previous child affected with some genetic problem, or those with a strong family history of genetic abnormalities (like cystic fibroisis, sickle cell disease, heart defect, cleft lip or palate). If you think you might be in this high-risk category you should see a genetic counsellor to discuss what tests you may need, and what the risks are of such occurrences. If a couple is using IVF to conceive there is an option to do a pre-implantation genetic test. The embryos can be tested for certain conditions prior to embryo transfer. It's a good idea to research your family medical history so that your doctor can determine whether genetic testing should be done and whether you fit into the low risk or high risk category for these. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists has patient information about genetic screening on their website.

November 19 2019 - 6:00AM

For the average couple, we give the lifestyle advice to stop smoking and to cease drinking alcohol when trying to conceive. Ensuring you have a healthy diet and are exercising regularly are also important. These general changes will improve the chance of getting pregnant and will give you a much less complicated pregnancy.

Achieving a healthy weight before pregnancy is very important in improving ovulation and increasing the chance of spontaneous conception.

For men, a healthy weight will improve the quality of his sperm.

For women it will help them to have a healthier pregnancy (such as reducing the chance of developing gestational diabetes) and assist with easier delivery and recovery.

We also need to consider those with underlying medical problems such as diabetes, high blood pressure and epilepsy. It is always advisable to make sure that they have those conditions well under control before they get pregnant.

For example, uncontrolled diabetes can increase the chance of fetal anomaly, pre-eclampsia can also affect the placenta function and increase the risk of growth restriction. There are certain medications that are not safe to take when you are pregnant. It is advisable to review all your medications with your doctor to change to safe in pregnancy medication if possible.

Pregnancy multivitamins and folic acid (which reduces the risk of neural tube defects) should be taken at least three months before you are planning to become pregnant, or as soon as possible once you do fall pregnant. Taking omega 3 does have lots of value in pregnancy. It helps the fetus brain development as well as reduce postpartum depression.

You should see your doctor about checking things such as your iron level and thyroid function, which require a simple blood test. Your vaccination status also needs to be checked, because we want to make sure you are immune to certain things like measles, mumps and rubella.

By doing this before you are pregnant, we have that opportunity to give you the appropriate vaccinations to make sure you are immune by the time you get pregnant.

There has been more and more things in the media about genetic testing and what couples need to be aware of, so see your doctor for the correct advice because there's a lot of information available.

Pre-pregnancy genetic testing

While genetic testing is becoming more widely available, it is not vital unless you are at a high risk of passing on specific conditions. This could be couples with a previous child affected with some genetic problem, or those with a strong family history of genetic abnormalities (like cystic fibroisis, sickle cell disease, heart defect, cleft lip or palate).

If you think you might be in this high-risk category you should see a genetic counsellor to discuss what tests you may need, and what the risks are of such occurrences.

If a couple is using IVF to conceive there is an option to do a pre-implantation genetic test. The embryos can be tested for certain conditions prior to embryo transfer.

It's a good idea to research your family medical history so that your doctor can determine whether genetic testing should be done and whether you fit into the low risk or high risk category for these.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists has patient information about genetic screening on their website.

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Q: What do I need to know before trying for a baby? - The Canberra Times

All the reasons why 2018 was a year of the outbreak of DNA data – asume tech

Genetic IQ tests. DNA detective work. Virtual drug trials. These were some of the surprising new uses of DNA information that emerged in the last 12 months, when genetic studies became more extensive than ever before.

Think back to the year 2003. We had just deciphered the first human genome, and scientists were still looking for very specific genetic errors that cause serious hereditary diseases such as muscular dystrophy. Now, however, we are dealing with information about millions of genomes. And the hunts are not just bigger they are fundamentally different. They begin to uncover the genetic roots of common diseases and personality traits, and they make the genetic privacy as good as impossible.

Here are the trends you need to know WITH Technology ReviewOwn reporting last year.

Consumer: It's all about genetic data. Now it is being collected by millions of people, both national and commercial.

Last February, we reported that as many as 12 million people had DNA tests on consumers. Since that number has reliably doubled every year, it's likely to be up to 25 million. In fact, DNA reports are now a mass product. During the Thanksgiving weekend, AncestryDNA's genetic test, which reveals where her ancestors came from, was among the best-selling items.

Big data: To understand the genome, scientists need to study as many people as possible simultaneously. In 2018, several hunts exceeded the million-person mark for the first time. These included the search for genetic foundations for insomnia and educational success. To this end, the researchers used national biobanks and received support from 23andMe, the well-known genetic testing company whose users can register to participate in research.

Polygenic scores: Some diseases are due to a single gene that goes awry. But big killers like heart disease are different instead, they're influenced by hundreds of genetic factors. Because of this, a new method for predicting risks from the entire human genome was the most important story of the year (see polygenic scores on our list of 10 groundbreaking technologies). The new findings may affect a person's chances of getting breast cancer, going through college, or even being big enough for the NBA. In 2019, keep an eye on genetic testing companies such as 23andMe and Color Genomics to see if they are commercializing such gene predictions.

Genetic IQ tests: Genes do not just influence how we look, but who we are. Now some scientists say that the same DNA scores can give a reliable idea of how intelligent a child will be later in life. The unanswered question: how should we use this information, if at all?


To test embryos: Yes, that is probably how it will be exactly like this science fiction movie Gattacaabout a world where parents pick their children out of a petri dish. IVF centers are already conducting genetic tests and parents are picking embryos to avoid certain serious disease risks. Now, Genomic Prediction, a New Jersey company we presented exclusively in 2017, is ready to test embryos to assess their future educational potential. So forget about CRISPR babies designer kids are already here.

Racist prejudices: Here is something that is not so great: About 80% of the DNA ever analyzed comes from Whites of European descent. This means that some new discoveries and commercial tests only work with whites and do not apply to Africans, Asians, Latinos or other ancestor groups whose genetic patterns are different. There are good scientific reasons to expand the gene hunt, says the geneticist of Stanford University, Carlos D. Bustamante. We may miss health breakthroughs if we look too closely.

Imitation of clinical studies: Did you know that you are part of a gigantic, random experiment? This is true. Or at least some geneticists see you like that. And now they've come up with a very clever trick called Mendelian Randomization that uses human medical information to predict which new medicines work for them and which do not.

Crime fighter: The more DNA data you have, the easier it is to find out who owns a drop of blood or a hair follicle. That's what the Golden State killer experienced in April, when he was caught in the nuisance of using an informal collection of DNA profiles and genealogical trees. In fact, the genetic anonymity of how mathematics works is broken because pretty much all of us already have a relative in a DNA database. A genetic genealogist, CeCe Moore, told us that she has identified 27 murderers and rapists since April. A very good year.

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All the reasons why 2018 was a year of the outbreak of DNA data - asume tech

GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain – BioSpace

Nov. 12, 2019 14:00 UTC

LOS ALTOS, Calif. & FAIRFIELD, Calif.--(BUSINESS WIRE)-- GenomeSmart, a Silicon Valley-based company delivering the first and only AI-powered genetic risk assessment and test recommendation platform to improve access to genetic testing, announced today that NorthBay Healthcare, an independent nonprofit health system in Northern California, has selected the GenomeBrain Platform for a pilot program planned to improve the routine use of genetic testing in patient care.

Weve looked at many options to support our providers but the GenomeBrain Platform offered us more of the critical features we wanted plus gave us the ability to customize to our needs, said Lori Muir, Oncology Services Director. NorthBay Healthcare is dedicated to delivering best-in-class oncology care to the patients we serve and we believe ensuring easy access to genetic testing is a critical part of those vital services. Were looking forward to working with GenomeSmart to support our providers in better identifying patients for testing, efficiently tracking available tests, and speeding access to hereditary risk results.

"This approach to screening patients will make it much easier for people to understand why and when genetic testing can impact their healthcare decisions. We are bridging an educational gap that, until now, has made access to genetic testing difficult. Our patients will no longer wonder if genetic testing is right for themthey will know before they even come in to see me," added Karen Vikstrom, MS, Certified Genetic Counselor, NorthBay Healthcare.

The NorthBay Healthcare pilot program will be completed in conjunction with the NorthBay Breast Cancer Program. The pilot is designed to ensure patients with breast cancer receive treatment based on genetic risk and to scale testing into routine care for healthy women and men to identify potential hereditary risks, ensuring appropriate access to screening and care programs. The GenomeBrain Platform will be incorporated into the current patient workflow and evaluated for effectiveness and ease of use.

The GenomeBrain Platform is accessed online through a mobile phone, tablet, or desktop device. The simplified experience first builds a patient profile, including their relevant personal medical history, family medical history, ethnicity and age, and then instantly matches them to the appropriate genetic tests based on the latest medical guidelines for genetic testing. GenomeBrain uses AI to ingest large amounts of data from patient history, genetic tests available on the market, and medical guidelines to simplify a cumbersome manual process that usually takes days to less than ten minutes on average.

Were thrilled to be partnering with NorthBay Healthcare on this important initiative, said Sanjay Sathe, CEO and co-founder, GenomeSmart. The NorthBay teams agility and interest in innovative approaches to care make them the ideal partner for us. They are able to implement efforts quickly and provide personalized care to their local community that rivals many larger urban-based institutions, all for the betterment of their patients.

About GenomeSmart

GenomeSmart is on a mission to make genetic testing available to everyone. In May 2019, the company launched GenomeBrain, the first and only AI-powered genetic risk assessment and test recommendation platform that matches and identifies people who could benefit from genetic testing. The affordable GenomeBrain Platform multi-functional solution is available to help genetic counselors, physicians, hospital systems, genetic testing labs, insurance companies, and corporations improve the effective use of genetic testing to save lives, improve quality and reduce costs of healthcare.

About NorthBay Healthcare

NorthBay Healthcare opened its first hospital in 1960 and remains Solano Countys only locally based, locally managed nonprofit health system. NorthBay Medical Center in Fairfield and NorthBay VacaValley Hospital in Vacaville offer 24-hour emergency care, intensive care, and sophisticated surgical and diagnostic services. NorthBay Cancer Center, located on the Vacaville campus, opened more than 30 years ago. NorthBay Healthcare is a member of the Mayo Clinic Care Network, giving its patients access to world-renowned physicians and Mayo Clinic research.

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GenomeSmart and NorthBay Healthcare Launch Pilot to Improve Access to Genetic Testing with GenomeBrain - BioSpace

Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. – Forbes

I just attended theNational Society of Genetic Counselors Annual Meetingin Salt Lake City, UT where I met some of the brightest minds in genetics, heard about mind-bending new technologies, and was reminded of the many ways that genetic counseling and testing is improving health, transforming lives, and driving precision medicine forward.

With that bright promise freshly in mind, several recent stories have cast a stark reminder of the ways genetic testing can, andis,being used nefariously.I published an article on this topicjust a few short weeks ago and didnt foresee that it would need a part II so soon. Consider the following:

The Trump administration already announced that they would require DNA samples from asylum-seekers at the Mexican border for rapid DNA testing to confirm family relationships.In a move called transparently xenophobic in its intention, the Trump Administration now plans to collect DNA from individuals in federal immigration custody and add those samples to the national FBI crime database.

MIAMI : A judges gavel rests on top of a desk (Photo by Joe Raedle/Getty Images)

A Judge in the Floridas Ninth Judicial Circuit Court signed a warrant allowing a detective to successfully obtain a warrant to search GEDMatchs genetic database,even for users who opted out of appearing in police search results.This decision brings into question whether larger databases, like those of 23andMe and Ancestry, are subject to the same sort of warrants, despite their privacy policies.23andMe does not believe that this decision impacts them, but that remains to be seen.However, it is possible that any privacy policyis only as strong as a police departments ability to get a willing judge to sign a search warrant.

NEW YORK, NY - JUNE 20: (Photo by Santiago Felipe/Getty Images)

A recent genetic study on homosexualityraised eyebrows for many reasons, including that it appeared that homosexuality was being positioned as a condition or worse yet a disease to study and understand.An informativeDNA Exchange blogpost by certified genetic counselor Austin McKittrickeloquently outlined the issues, including that the study utilized data from the UK Biobank and 23andMe.Consumers consenting to 23andMe research studies may falsely believe that their data are being used only to further critical health care problems, like finding a treatment for Parkinsons disease, rather than for research that could potentially lead to discrimination or stigmatization of groups of people.Within days of this research being published an app called GenePlaza was developedthat, for about $5, could tell you how gay you are.Can you imagine this app being used at a middle school slumber party, with results posted to social media?But worse yet, the apps developer is based in Uganda,a country that announced plans that it would make homosexuality punishable by the death penalty.

Now, for just a moment, think about these three developments in unison.Our government is requiring DNA collection for immigrants in custody and those samples will enter our federal crime databases.Large databases, even for consumer entertainment, are subject to search warrant.Genetic data are being collected and used to make associations (accurate, or not) to a trait that may be punishable by death in some countries.

If we have been waiting for a sign thatwe need federal, or international, protections for genetic data and how it can be used, we now have that sign.

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Waiting For The Sign that Protections Are Needed For Genetic Data? Here It Is. - Forbes

Gene patenting reform in the US and the knock-on effect in Europe – Health Europa

This year there has been quite some talk about patenting the discovery of new genes. The patency eligibility criteria for this is set to undergo major reform in the US, which is likely to have a huge impact on a number of companies offering genetic testing kits, including 23andMe and AncestryDNA. Here, McDowell of EIP, an IP and patent law firm, shares her thoughts on the reform and the potential far-reaching impact it might have in the world of genetics, gene patenting and beyond.

The question of what should and should not qualify as patent eligible subject matter has, for several years, drawn sharp debate in the United States. Since 2012, the US Supreme Court has operated under the Alice/Mayo framework, which has sought to prevent patenting of abstract ideas and naturally occurring phenomena. This has had broad repercussions within the biotechnology sector and beyond; for example, resulting in the widespread proliferation of mail-order spit-kit operations like 23andMe.

Reform of the Alice/May framework has seen strong support from parts of the biotech industry, citing lack of investment as a barrier to greater research into diagnostic methods. However, a more general concern from stakeholders in the United States is that the unpredictability caused by the Alice/Mayo framework puts the US at a disadvantage compared to International competitors; particularly in respect of some of the most cutting-edge technologies, such as AI and molecular diagnostics. A lack of patent availability is allegedly driving investment to other countries, where such inventions are more clearly patent-eligible.

Battle lines have been drawn between the biotechnology and software industries, with calls for less restrictive eligibility criteria coming from the former. The financial input needed to develop new technologies differs substantially between these industries. Lone inventors and small businesses in the software industry, with the ability to develop their products cheaply, felt stifled by overbroad patents granted to others before 2012.

Meanwhile, even small players in the biotech industry rely on high value investment before diagnostic and curative treatments can be brought to patients. Intellectual property protection is key to ensuring that investors in this sector feel secure that the vast sums of money they contribute will be recouped through effective commercialisation.

The Executive Director of Cleveland Clinic Innovations recently explained that: Ability to gain patent protection is the first factor in our assessment of whether a product can reach the market; if an invention cannot get intellectual property protection, usually that is a fatal flaw and the invention is canned at that point.

With this being a widespread stance in the pharmaceutical and diagnostics industries, it is easy to see how the current restrictions to patentability could lead to fewer treatments being developed in the US. What is more, Internationally, the US is no longer top of the list for biopharma companies launching their products; with companies citing inability to protect their ideas as a key reason for not entering the US market.

On the other hand, there are those within the biotechnology sector who side with the software industry in favouring the status quo. Genetic testing companies have reaped the benefits of a restrictive patent eligibility criteria, which has resulted in the invalidation of patents to isolated gene products, and so removed the barriers to developing genetic testing kits.

Since 2013, aided by this provision, the cost of genetic testing kits has decreased significantly leading to a boom in popularity and numerous spit-kit companies have crowded the genetic testing market. This new Bill, if enacted, will likely prove problematic for US companies such as 23andMe, who offer customers the ability to test their DNA to uncover their ancestry or genetic vulnerabilities. Consequently, this might open the door for a widespread change in the industry.

The proposed Bill stuttered when a sticking point emerged during consultations with stakeholders. A last-minute amendment to 35 U.S.C. 112F, which governs how patentees may claim their invention in functional terms (as opposed to reciting specific physical structures), has been criticised by members of the biotech industry for watering down patent protections.

The draft Bill provided that, if any patent claim element is expressed as a specified function without the recital of structure, material, or acts in support thereof, then that claim element will be limited to the corresponding structure, material, or acts described in the specification and their equivalents.

This was offered to assuage concern that overruling the patent-eligible-subject-matter case law would herald a return of nuisance patents directed to business methods and software, which often contain functionally defined terms. However, rather than reassuring stakeholders in the software industry, the proposal seems to have succeeded mainly in frightening the biotechnology sector.

Several witnesses from both sides of the debate raised concerns about the burden that drafters and inventors will face from having to enumerate every way of carrying out a claimed method under the proposed amendment to 112F.

Conflicting views on the draft proposal has meant that the initial momentum for reform has been lost for the time being. This will frustrate those in the biotech industry who are keen to see a return the ability to obtain patent protection for their products and processes, which they hope will boost research, and drive investment back into the United States.

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Gene patenting reform in the US and the knock-on effect in Europe - Health Europa

Could Testing for RNA in Addition to DNA Make a Difference in Cancer? – Medical Device and Diagnostics Industry

Interest in genetic testing for screening cancer risks continues to grow. Reports and Data, for instance, expects the global market for nucleic acid testing to reach USD 4.10 billion by 2026, driven in part by such interest, according to a report published in May.

A new test that launched nationally at the end of September, +RNAinsight, combines RNA and DNA genetic testing for hereditary cancer in one clinical test. Data being shared this week suggest that the combined test could help more patients discover whether their genetics increase their cancer risks.

Lifestyle, environment, and age all factor into ones risk for developing cancer. However, genetics also play a large role, Jessica Profato, manager of product marketing at Ambry Genetics, told MD+DI. Some individuals are born with mutations errors in our DNA that cause an increased risk for cancer. Examining someones DNA and RNA to look for these mutations helps doctors and patients learn whether they have increased cancer risks.

Standard DNA testing for hereditary cancer excludes large portions of a persons DNA, thereby missing mutations, she continued. Adding RNA to DNA testing overcomes these limitations for a significant number of patients as RNA provides considerably more evidence than DNA alone about whether the genes in our DNA have mutations. +RNAinsight enables clinicians for the first time ever to conduct both DNA and RNA genetic testing at the same time.Ambry Geneticsis the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer as a commercially available clinical test, according to the company.

Ambry is sharing data from the first 2500 patients who have received +RNAinsight testing for hereditary cancer risk at this weeks National Society of Genetic Counselors Annual Conference in Salt Lake City. Collected from a prospective, nationwide pilot, the data showed that using +RNAinsight resulted in an overall relative increase in diagnostic yield (identifying mutations in DNA as disease-causing) of 6.7 percent compared with DNA testing alone, Ambry reported in a news release. The yield increased by as much as 19 percent for specific genesfor BRCA1, 14 percent more patients learned they had a mutation that increased their cancer risks than would have if they had only received DNA testing, according to the company.

Substantially more often than DNA testing alone, this paired testing identifies whether someone has a genetic mutation that either increases their risk for developing cancer or that may have contributed to their existing cancer, Profato told MD+DI. This is the first genetic testing advancement in 13 years to significantly increase the number of patients identified with a specific hereditary risk for cancer in genes like BRCA1 and BRCA2, which are associated with hereditary breast and ovarian cancer. +RNAinsight can help thousands more patients annually learn whether mutations in their DNA increase their risks for developing hereditary cancer each year, establishing a new clinical standard for genetic testing.

Profato said that discovery of such a mutation in a gene associated with increased cancer risk can have life-changing benefits: 1) it enables recommendations for cancer prevention through tools such as preventive surgery; 2) it increases surveillance for certain cancers (like mammograms) and therefore early detection; 3) it may inform treatment for cancer patients; and 4) it can enable family members to get the testing they need to understand their cancer risk.

She added that the companys studies showed that both genetic testing generally, and +RNAinsight specifically, improved medical care. If the test reveals a mutation known to increase cancer risk, doctor-recommended management can include preventive surgeryandearlier and/or more frequent cancer surveillance (e.g., mammograms and breast MRIs).

Rachid Karam, MD, PhD, lead study author and director of the Translational Genomics Lab at Ambry Genetics, summed up the significance of the data being shared this week in a statement: These findings further demonstrate that hereditary cancer panels should include both RNA and DNA genetic testing. By looking at regions of the gene that other tests dont, +RNAinsight reduces false negatives, maximizing the number of patients who learn they have higher risks for hereditary cancer.

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Could Testing for RNA in Addition to DNA Make a Difference in Cancer? - Medical Device and Diagnostics Industry

The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" – The National Interest Online

Key Point: the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat.

Want to be a Russian paratrooper or tank commander? Then youd better hope you have the right genes.

The Russian military will be assigning soldiers based on their genetic passports.

The project is far-reaching, scientific, fundamental, Alexander Sergeyev, the chief of Russias Academy of Sciences, told Russian news agency TASS back in the summer (English translation here). Its essence is to find such genetic predispositions among military personnel, which will allow them to be properly oriented according to military specialties.

It is a question of understanding at the genetic level who is more prone to, for example, to service in the fleet, who may be more prepared to become a paratrooper or a tankman.

Advances in medical technology are making genetic testing a common medical procedure. It is used to detect genetic diseases such as cystic fibrosis, or the risk of developing certain diseases such as colorectal cancer. Pregnant women can also choose to be tested to determine whether their baby has genetic abnormalities such as Down syndrome.

But Russian President Vladimir Putin has embraced genetics with a passion. In March, the Kremlin issued a decree that called for implementation of genetic certification of the population, taking into account the legal framework for the protection of data on the personal human genome and the formation of the genetic profile of the population. Ostensibly this is to protect Russias population against chemical and biological attack, as well as safeguard Russias genetic patrimony from Western spies and saboteurs.

It has also spurred fears that Russia is edging towards a Nazi-style eugenics program in which certain groups, such as those Russians of Slavic ancestry, will be favored.

Either way, the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat. The project involves not only the assessment of the physiological state, but also the prediction of human behavior in stressful, critical situations that are associated with the military profession, says Sergeyev, Russia's chief scientist. Resistance to stress, the ability to perform physical and mental operations under the conditions of this stress, and so onall this may be contained in a soldiers genetic passport.

It is not just soldiers who will be genetically profiled. In December 2018, another Russian scientist announced that cosmonauts will be tested. The first area is the research into the humans genetics from the viewpoint of using it in the selection [for the cosmonaut program], said Lyudmila Buravkova, deputy director of the Institute of Medical and Biological Problems at the Russian Academy of Sciences. The second area is the attempt to remedy genetic errors as much as this should be done before a flight.

To be clear, many militaries use some kind of testing, such as the U.S. militarys Armed Services Vocational Aptitude Battery (ASVAB), to determine whether someone is qualified for military service, and whether they are suitable for certain positions such as technical jobs. The U.S. military collects DNA from soldiers to identify their bodies if they are killed. The Defense Health Agency told the National Interest that the U.S. military does not use genetic testing to assign personnel.

Thats not surprising, given that genetic testing would certainly raise concerns over privacy and racial profiling. A civil rights issue that isnt likely to be a cause of furor in an authoritarian society like Russia.

The bigger question is whether an army can decide whether someone is better suited to be a pilot, a rifleman or a cook based on their genetic profile.

Michael Peck is a contributing writer for the National Interest. He can be found on Twitter and Facebook.

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The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" - The National Interest Online

Genetic testing leads woman to take steps to avoid breast cancer: Im one of the lucky ones – WITI FOX 6 Milwaukee

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MILWAUKEE -- The earlier you catch breast cancer, the better your odds are of beating it. That is the idea behind the FOX6 initiative, Buddy Check 6.

Birthdays are a time to celebrate -- especially the big ones like turning 30 years old -- which is what Antonina Sendik was doing last month.

"I'm one of the lucky ones," Sendik said.

In fact, you might say Sendik is just starting her life.

"It's been a very emotional six months," Sendik said.

Sendik's father has had two brain tumors and was recently diagnosed with a disease called Cowden's Syndrome. It is a red flag that Sendik and her five siblings may have inherited the gene mutation that can cause a host of health problems. Doctors recommended genetic testing. They found Sendik had an 86 percent chance of developing breast cancer.

"I had no symptoms. I felt fine besides what was on the inside," Sendik said. "We started talking then about -- I'm probably going to have a double mastectomy."

Sendik learned that reality just a few months ago.

"You never think this is going to happen to you or this can't happen to me," Sendik said. "I would have loved to have blown it off. Learning that risk, I had no choice.

Sendik's doctor felt the same.

"With the genetic mutation, we knew that the risk was there," Dr. Caitlin Patten said.

"She said my job is to keep you safe -- and that's what I'm going to do," Sendik said.

With that, Sendik decided to go through with the surgery. It was a success. Post-surgery, the breast tissue that was removed was tested.

"So there were cancer cells. But it hadn't broken outside the duct -- it hadn't spread anywhere," Sendik said.

Sendik was relieved.

"She got it, it's gone, it's out of me," Sendik said.

Sendik does not need radiation or chemotherapy because the cancer is gone. She just needs to maintain a healthy lifestyle -- and keep regular appointments with her doctor.

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Genetic testing leads woman to take steps to avoid breast cancer: Im one of the lucky ones - WITI FOX 6 Milwaukee

DNA screening of 4,200 Alabamians warns them, helps science –

An Alabama genetic research institute said today it has screened the DNA of 4,200 Alabama men and women for cancer risk and found it in about 150 people or 3 percent.

More than half of that 150 have no strong family history of cancer, researchers at the HudsonAlpha Institute of Biotechnology in Huntsville said today at the institutes annual Tie the Ribbons lunch supporting breast and ovarian cancer research.

The free and low-cost screening program called Information is Power is now entering its fifth year. The test was developed by genetic testing company Kailos Genetics and screens for the well-known BRCA1 and BRCA2 genes plus several others linked to breast, ovarian, colon and other cancers.

Researcher Sara Cooper said the lack of family history in positive test subjects is why this initiative is so important. Testing can fill the gaps in family history with facts, she said.

The screening is available free for men and women between the ages of 28 and 30 living in Madison, Jackson, Limestone, Marshall and Morgan County. Its available for $129 any other person 19 or older wishing to take it.

Cooper said genetic testing can also reveal risk of other medical issues beyond cancer, including cardiovascular disease. It can also help identify medications individuals might want to avoid given their genetic profile and dosage levels that are best for individual patients.

This work is part of a budding initiative at the institute, Cooper said, and it will launch in Alabama within the next year.

It took decades to identify the genes Americans are now tested for as risks, Cooper said. Even when we know what those genes are, we have to develop the technology to efficiently test people and find the changes in their DNA, she said.

There is still work to be done, she said. There are genes researchers havent found that contribute to cancer risk. There are new DNA changes discovered in genes already associated with cancer. These changes have uncertain significance, and HudsonAlpha is developing research techniques to determine whether those changes are meaningful.

The research were doing today lays the foundation for tomorrows success, Cooper said.

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DNA screening of 4,200 Alabamians warns them, helps science -

Healthcast: The importance of genetic testing – KLBK | KAMC |

LUBBOCK, Texas Family trees show where youve been.

But the family tree that genetic counselor Julie Beasley shows her patients at Joe Arrington Cancer Center shows what their future could look like.

Genetics is important for everybody no matter your gender, your race, your age, explained Beasley. Genetic testing and family history can play a vital role in healthcare for any role in any race.

She talks to people who have cancer or family history of cancer and helps them figure out if something is hereditary or can expose them to cancer in their family.

Its important to know your family history to get an idea of whats in your family but not just what they were diagnosed with but how old were they or was it a rare type of cancer, Beasley explained.

This testing can help patients get diagnosed earlier or could prevent it all together.

Interpreters are also available for people who dont speak English so they can also understand what is going on.

I think its very important because sometimes theyre scared to come in because of the diagnosis but if they dont completely understand whats going on then they may not be willing to come back, said Delia Rubio, intake coordinator at Covenant Health. This way theyre informed and they know.

Beasley hopes patients will see the importance of genetic testing and how it can benefit people in the future.

If patients know its there we can help them with managing it so they dont worry as much and they can put that behind them, said Beasley.

Healthcast: The importance of genetic testing - KLBK | KAMC |

The University of Vermont Initiates Genomic DNA Testing in Partnership With Genomics Leader Invitae (NYSE:NVTA) as Cigna Joins Invitae’s Covered Lives…

The University of Vermont Health Network has begun a pilot project to offer Genomic DNA Testing to patients as part of their clinical care. The pilot program is the beginning of an effort to increase the integration of genetic disease risks into routine medical care, which holds promise for providing Vermonters with valuable information to guide their health decisions.

"Our overall health and longevity are determined about 30 percent by genetics," said Debra Leonard, MD, PhD, Chair, Pathology and Laboratory Medicine. "But until now, most of our clinical health care decisions have been made without understanding the differences in each individual's DNA that could help guide those decisions."

Patients who choose to get the Genomic DNA Test can learn about differences in their DNA that make certain diseases more likely, such as cancer and heart disease. Knowing these genetically-determined disease risks may help patients and health care providers adjust their care to keep people as healthy as possible. While genetic testing to identify the cause of a patient's symptoms to reach a diagnosis is now common in health care, proactive genomic testing to identify health risks across a population is just beginning to be considered, and most projects are being done only in the research setting.

The UVM Health Network is partnering with Invitae and LunaPBC on the pilot project. Invitae will provide information for 147 genes that are well-established indicators of increased risk for certain diseases for which clinical treatment guidelines are established. The test also screens for carrier status for other diseases. Follow-up testing for family members will be provided when appropriate.

"Nearly 1 in 6 healthy individuals exhibits a genetic variant for which instituting or altering medical management is warranted," said Robert Nussbaum, MD, Chief Medical Officer of Invitae. "Genetic screening like the Genomic DNA Test in a population health setting can help identify these risk factors so clinicians can better align disease management and prevention strategies for each patient."

The UVM Health Network is offering the Genomic DNA Test as part of clinical care, but health and genomic data can also help researchers learn more about health and disease. Patients who get the test can consent to securely share their data with researchers through LunaDNA, partner LunaPBC's sharing platform. LunaDNA provides patients with the opportunity to share their genomic and electronic health record information to advance health and disease management research. In the future, patients will also be able to share lifestyle, environment, and nutrition data.Shared data is de-identified and aggregatedduring studiesto protect the privacy of each patient while being used to answer important medical research questions.

"Vermonters who choose to share their genomic data for research will play a leading role in the advancement of precision medicine," said Dawn Barry, LunaPBC President and Co-founder. "This effort puts patients first to create a virtuous cycle for research that doesn't sacrifice patients' control or privacy.We are proud to bring our values as a public benefit corporation and community-owned platform to this partnership."

Dr. Leonard spoke about the project, the UVM Health Network's partnership with LunaPBC and Invitae, and the role of genomics in population health on Monday at the Santa Fe Foundation's Clinical Lab 2.0 Workshop in Chicago, a national conference at which pathologists and healthcare leaders from across the country share ways that pathology can be integral to improving population health.

"Vermont and other states are moving away from 'fee-for-service' health care and toward a system that emphasizes prevention, keeping people healthy and treating illness at its earliest stages," Dr. Leonard said. "Integrating genetic risks into clinical care will help patients and providers in their decision-making."

The pilot project began on Friday, November 1, when the first patient agreed to have the test. During the pilot stage of the project over the next year, the Genomic DNA Test will be offered to approximately 1,000 patients over the next year who: are at least 18 years old; receive their primary care from a participating UVM Health Network Family Medicine provider; are not currently pregnant or the partner of someone who is currently pregnant; and are part of the OneCare Vermont Accountable Care Organization (ACO), a care coordination and quality improvement organization.

Patients do not have to pay for the test or for discussions with the UVM Health Network's Genomic Medicine Resource Center's genetic counselors before and after testing. The test uses a small amount of blood, and focuses on the parts of a patient's DNA that most affect health and health care. Results will go into each patient's medical record, protected like all medical information, and available to the patient and all of their health care providers.

"Much work has gone into getting ready to start this project and it has taken an entire team," Dr. Leonard said. "Providers from Family Medicine, Cardiology, the Familial Cancer Program, Medical Genetics and Pathology, patient and family advisors, ethics and regulatory compliance leaders, Planning, Finance and OneCare Vermont have all worked together to get us across the start line for this initiative."

Patients should be aware that the UVM Health Network will never call them on the phone to ask them to get this test. Testing is arranged through a patient's primary health care provider and only if the patient agrees to have the test.

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The precious few thematic top picks, research dossiers, and one-on-one CEO interviews, are available for a limited time.Join Us: Discover the undiscovered companies that will power technology's future.

Thanks for reading, friends. The author is long shares of Invitae at the time of this writing.


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The University of Vermont Initiates Genomic DNA Testing in Partnership With Genomics Leader Invitae (NYSE:NVTA) as Cigna Joins Invitae's Covered Lives...

The Companies Offering DNA Testing To Find The Best Cannabis For You – Benzinga

"Genetics" is a word that is often tossed around in the cannabis industry. Even before the boom in legal cannabis, plant enthusiastsknew the value that gene science could add to the recreational and medical experience.

For the most part, efforts in genetic research surrounding cannabis have been focused on the plantinstead of the user.

Cannabis sativas genetic material has been thoroughly studied and dissected, but the quest to understand how our own genes interact with the plant is still in its early stages. Enough knowledge about human-cannabis interaction has been gathered, however, for companies to leave the realm of academic research and enter the commercial space.

Today, if you have $200 and a mailing address, you can obtain a personalized DNA test that will analyze your unique genetic characteristics and explain what type of cannabis best fits your genetic profile.

After a simple cheek swab, these companies can obtain your entire DNA sequence. Their analysis lets them find out the 1% of DNA that makes you special, and then contrast this data to peer-reviews studies on medical cannabisto recommend a method of consumption; aCBD-to-THC ratio; or a selected terpene profile.

What were doing is, were looking at the genetics in a persons body to determine how the body is going to process and respond to cannabis and the compounds that are in cannabis products, said Dr. Charles Sailey, genetic research partner at MelixGX, a company offering genetic testing.

The company's testing system is basedon certain variants that people have in their DNA that cause each individualto respond differently, such as the gene that encodes an enzyme that processes THC or CBD or a gene that encodes the receptors where cannabinoids and terpenes bind.

After looking at all these variants, MelixGXcomes up with an algorithm that predicts the way a person will respond to a particular cannabis product.

Both companies interviewed we spoke raised the issue of a slewof competitors offering the same service.

A clear rift exists between companies doing the genetic tests themselves and expanding research with in-house scientific teams, and those that lack academic expereience and offer a diluted version of the tests without proper scientific support, the execs said.

Consumers looking to take these tests for themselves are advised to look into the company they hire to ensure the best quality is achieved.

Endocanna Health was one of the first companies in the cannabis space to offer this service.

CEO Len May was focusing his studies on plant genetics when he realized that people have different experiences when they consume the same exact cultivar.

That led him to start the company with the goal of finding out which genes and snips single-nucleotide polymorphisms affect the endocannabinoid system, directly or indirectly, he told Benzinga.

The CEO walked us through the way Endocanna makes recommendations after obtaining a users DNA code.

Every single thing that we say has a reference associated to it. Now, the references are given a different weight. If theres a completed human trial, that gets a grade of a 4. If a study is done on an animal, then it gets a 3. If its done in-vitro, then it gets a 2. And if its an observational study, then it gets a 1. These are all peer-reviewed.

If a study is too specific, Endocanna's scientific team will not accept it.

After having created this database, which is updated as new studies come out,the company came up withthe symptomatic conditions, or traits, that relate back to the use of cannabis and where genetics make a difference. These traits includeanxiety, depression, cognitive function, increased chance of pain, sleep and psychosis.

These are all things that people would use cannabis for, so theres three different variables," May said:

If all these three are positive, Endocanna will make a suggestion to the user, the CEO said.

Dont miss out on the top cannabis stories of the day. Click here to sign up for our daily insider newsletter.

Most people in the cannabis space are aware of the fact that, given the U.S. federal ban on cannabisand the drugs classification as a Schedule 1 narcotic, scientific research licenses are difficult to come by.

This situation widely limits the amount of research done on the plant.Thats why we couldnt help but wonder if the scientific community has obtained enough data for companies like Endocanna and MelixGXto make precise recommendations to patients and customers.

Benzinga raised this question withRob Dhoble, an expert in cannabis science and Managing Director of Havas ECS, a consulting firm focused on cannabis communications that is part of the Havas Group.

The companies face a policy dilemma, he said.

Since these companies work under the principle of cannabis as a medicine, and the DEA is still considersmarijuana to have no medical value federally, their products cannot be approved medical devices, and therefore the algorithms they use are in contradiction withfederal law, Dhoble said.

Endoncanna's May said there will never be enough scientific research to be 100% sure of anything.

The technology behind his company and others is ready to make peoples lives better, the CEO said.

Theres over 15,000 articles alone in pubmed on cannabis, he said.

We dont make any claims, we dont make recommendations, we make suggestions. But people have to be cautious, because the cannabis industry is ever-changing. So, do we need more research? Definitely. We encourage everybody to do research, because that research gets fed into our system, and we will get better.

MelixGX's Sailey saidhis company is solely focusing on anxiety, pain and insomnia at thistime, since these are the three areas in which they were able to secure a reasonable amount of data from over 4,000 publications.

Dr. Susan Trap is a Ph.D. researcher who has done extensive research on terpenes and their therapeutic applications.

In general, these pharmacogenetic tests are useful for the novice user to generalize which strains indica, sativaor hybridbest suit their specific cannabis profile, she told Benzinga.

But in her opinion, thesetests still require much more data sampling in order to increase their accuracy, and Trap said thesewill only come with time.

Dr. Jordan Tishler, a Harvard physician and President of the Association of Cannabis Specialists, said the genetic testing companies are headed in the right direction, but said there are several caveats to the way they operate today.

Tishler is skeptical of any kind of suggestion made outside of a medical context since there may be other illnesses, characteristics, medications or situations that are not apparent simply from the genetic material and need to be factored into any medical recommendation.

No field of medicine would base action solely on one test result, he said.

Genetic testing should be used only at the recommendation or order of a treating clinician, and results should be sent to that clinician for interpretation, communication to the patient,and action as needed.

Dr. Levan Darjania has over 18 years of research experience in the biotech and pharma space and is the chief scientific officer at Vertical Wellness.

"This is just a fresh start that requires way more definitive and specific preclinical and clinical studies and validations before it can be recommended as a 'solution'to patients and users."

Picture byArek SochafromPixabayandNikita Golubevfrom Flaticon.

2019 Benzinga does not provide investment advice. All rights reserved.

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The Companies Offering DNA Testing To Find The Best Cannabis For You - Benzinga

The global Prenatal and Newborn Genetic Testing Market is expected to reach US$ 11,204.74 Mn in 2027 from US$ 4,034.37 in 2018 – Yahoo Finance

The market is estimated to grow with a CAGR of 12. 2% from 2019-2027. The key factors that are driving the growth of the significant increase in the prevalence of genetic diseases among infants, supportive government for promoting the use of prenatal and newborn testing and increasing birth rate are boosting the market over the years.

New York, Oct. 28, 2019 (GLOBE NEWSWIRE) -- announces the release of the report "Prenatal and Newborn Genetic Testing Market to 2027 - Global Analysis and Forecasts By Product, Disease, End User and Geography" - In addition, the growth opportunities in emerging markets in developing countries are likely to have a positive impact on the growth of the market in the coming years.Several types of genetic diseases affect the fetuses in the womb.The way in which these genetic diseases are inherited helps to determine the risk that they pose on pregnancy as well as the risk of its recurrence.

The risk of having genetic diseases in babies is high in cases where the parents have another child with a genetic disease, family history of a genetic disorder, or if either of a parent has a chromosomal abnormality.There is a significant prevalence of genetic diseases among infants.

Moreover, these diseases are also responsible for infant mortality across the globe. For instance, according to the World Health Organization 2016, an estimated 7.9 million infants across the world are born with genetic defects. Moreover, according to the Centers for Disease Control and Prevention (CDC), birth defects affects every 1 in 33 babies born in the US. On the other hand, chromosomal abnormalities such as Down syndrome affects 1 in 691 babies born in the US, as per the CDCs data in 2017. Thus, the high prevalence of genetic diseases among infants account for the increasing demands for prenatal and newborn genetic tests, thereby contributing to the growth of the market.Global Prenatal and Newborn Genetic Testing Market was segmented by product, disease indication, and end user.The product segment was further divided as diagnostic and screening.

On the basis of disease indication, the market is segmented into the cystic fibrosis, sickle cell anemia, Down syndrome, phenylketonuria, and other diseases.Based on the end user, the prenatal and newborn genetic testing market is segmented into hospitals and clinics, diagnostic centers, other end users.

The hospitals and clinics held a major market share among the end user segment as they are the primary healthcare centres for all patients.Some of the major primary and secondary sources included in the report for the Prenatal and Newborn Genetic Testing Market are World Health Organization, UAE Genetic Diseases Association, Centre for Arab Genomic Studies, National Health Service (NHS), Centers for Disease Control and Prevention, National Human Genome Research Institute (US), Florida Department of Health and others.Read the full report:

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The global Prenatal and Newborn Genetic Testing Market is expected to reach US$ 11,204.74 Mn in 2027 from US$ 4,034.37 in 2018 - Yahoo Finance

Genetic testing could keep you healthy. But what about personal info? – Deseret News

LEHI If given a chance, who wouldnt want to spend a few bucks to find out if theyre at heightened risk for one day having to confront some life-changing or life-ending medical malady?

Thats the concept fueling an explosion in direct-to-consumer genetic testing and one thats also elevating ethical debates about how this most personal of information should be interpreted and protected.

Utah-born is the latest entry into a growing list of companies offering health-focused genetic testing an industry expected to grow to $20 billion annually in the next few years.

While best known and an industry leader for its expertise in providing answers to the Where am I from? question, Ancestry will now expand its genetic testing resources to help people anticipate future health issues and help address, Whats going to make me sick?

Last week, the company that launched more than 30 years ago as a family history search service, later adding DNA testing to help customers identify their geographic ancestral roots, announced its new, health-focused genetic testing service.

AncestryHealth will offer two levels of genetic testing that the company said will deliver actionable insights that can empower people to take proactive steps in collaboration with their health care provider to address potential health risks identified in their genes and family health history.

Ancestry CEO Margo Georgiadis said the new genetic tests will help clients proactively manage their health care needs, armed with new insight on what conditions they may be predisposed for, based on genetic evidence.

Your genes dont need to be your destiny, Georgiadis said in a statement. Understanding your familial and inherited health risks can help you take action with your doctor to improve your chances of better health outcomes.

For more than three decades, Ancestry has empowered journeys of personal discovery to enrich lives. In the same way that knowledge of your family and ethnicity helps you understand your past to inspire your future, knowledge of your genetic health profile and any associated risks can help you be proactive in managing the future for you and your family.

The two testing products, according to the company, include AncestryHealth Core, which uses the companys current genotype genetic assessment technique to detect genetic differences and deliver personalized reports related to health conditions such as heart disease, hereditary cancers, blood-related disorders, and risks for carrier status of health conditions, such as Tay-Sachs disease. The one-time test costs $149 and also includes the companys family history report. Those who have already submitted a biologic sample to the company can get the new genetic report for $49.

While likely not available until sometime in 2020, the AncestryHealth Plus will use more current, genetic sequencing technology that will provide greater coverage of DNA differences for each condition and more risk categories such as those related to potentially developing heart disease, cancers, and disorders related to blood, the nervous system and connective tissues. The sequencing test will require a $199 activation fee, which the company said includes the first six months of membership and an additional $49 membership fee every six months. Existing Ancestry customers will be able to upgrade to AncestryHealth Plus for an initial payment of $49.

Ancestrys testing regimen will assess genetic samples and indicate predispositions for high cholesterol and cardiomyopathy, which can lead to heart disease; hereditary indicators for breast, ovarian, colon and uterine cancers; and blood disorders including abnormal clotting and iron overload. The testing can also determine if the sample donor is a gene carrier for cystic fibrosis, sickle-cell anemia or Tay-Sachs disease, a fatal nervous system disorder that most commonly occurs in children.

Unlike its competitor, 23andMe, which has earned U.S. Food and Drug Administration approval for providing genetic test results directly to customers without a physicians participation, Ancestrys genetic testing service requires a physicians order to conduct the tests and the company says it has contracted with a private network of independent physicians and genetic counselors who participate in the process. Ancestrys health testing service also connects customers to educational information, including access to genetic counseling resources and provides printable and consumer and physician-ready reports that provide guidance for next steps an individual and their health care provider can take together.

Lynn Jorde, chairman of the University of Utahs Department of Human Genetics and executive director of the Utah Genome Project, said while labs are now capable of sequencing the entirety of the human genome some 3 billion genetic basis pairs the microarray technique currently used by Ancestry evaluates a small window of genes that, if a variation is found, have a viable medical response.

What theyre looking at is specific changes in the DNA that we know about in specific instances ... and are often called actionable genes, Jorde explained. If you have a disease causing variant here, there is actually something we can do about it.

Jorde said while some genetic markers, like those for cystic fibrosis, indicate a high probability that you have or will develop that condition, many more are merely suggestive.

The predictive power of genetic testing is getting better and better, but it will never be perfect, Jorde said. For many of these conditions, there are nongenetic components that impact risk.

Jorde said things like environment, diet and exercise/activity level can play a significant role in an individuals risk of developing an illness or disease.

Teneille Brown is a professor at the University of Utahs S.J. Quinney College of Law and an expert in health law and medical ethics. In an interview, she noted direct-to-consumer genetic testing services, now being offered by dozens of companies according to the National Institute of Health, are occupying a space thats in between current regulatory boundaries aimed at protecting individuals privacy rights.

In the research realm, any federally funded projects are subject to stringent privacy rules, Brown said. That is also the case for health care institutions that handle genetic material, under (Health Insurance Portability and Accountability Act) rules.

But the big databases being built by testing companies are outside of the federal funding process and are not health care providers, so the HIPAA rules dont apply, Brown said.

Ancestry appears to underscore this by noting, in its user agreement, that it is not a covered entity under HIPAA rules.

Brown noted that in addition to unanswered questions about privacy protections, genetic test results can lead to deep emotional impacts for tested individuals, either through the discovery of gene markers that are suggestive of some future medical challenge or, less obviously, when a clean test is returned, which may provide an inaccurate suggestion that theres nothing to worry about.

Theres a huge problem when it comes to understanding what these risk scores mean, Brown said. The predictive values of these results is widely variable, including what is, or is not, implied by failure to find a specific marker.

Brown said genetic testing companies have wide-ranging policies regarding sharing an individuals genetic test results or stored biologic samples with third-party researchers. Ancestry, for example, says it will only share your information if youve given them specific permission to do so, through its informed consent agreement.

While the regulatory world is lagging behind the fast-moving development of genetic testing technology, Brown said she believes the bigger companies, including Ancestry, are working to create appropriate protections for their customers. And, she added, the growing body of knowledge being accumulated by this work could lead to groundbreaking advancements in treatments for serious diseases.

These companies might play a role in developing amazing drugs and therapies, Brown said. Collectively, they are adding all of this amazing content, providing pedigrees and information and incredibly powerful databases ... and a lot of good can come of it.

Its not at all sinister, but we need consumers to know what theyre submitting and being diligent about potential secondary uses of that data. More robust consent requirements for users and strict limitations for secondary uses are certainly in order.

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Genetic testing could keep you healthy. But what about personal info? - Deseret News

Healthy Headlines: Breast cancer genetic testing: What you need to know to make an informed decision – User-generated content

St. Elizabeth Healthcare

At St. Elizabeth Healthcare, we know that a breast cancer diagnosis can be shocking and overwhelming. We offer comprehensive care from the moment of your breast cancer diagnosis through your surgery, treatments, recovery and beyond.

Our breast cancer care protocol has recently expanded to include meeting with a genetic counselor shortly after your diagnosis.

New guidelines recommend multi-gene panel genetic testing be offered to all newly diagnosed breast cancer patients, regardless of age or family history.

Genetic information can be very impactful, says Justine Snyder, Licensed Genetic Counselor in the Hereditary Cancer Program at St. Elizabeth Healthcare. Our goal is to help keep patients and their family members healthy by making proactive decisions.

These proactive decisions could include earlier screening mammograms for family members if specific breast-cancer genes like BRCA1 and BRCA2 are identified, as they can increase the risk of ovarian or breast cancer. Genetic testing gives our patients and their families the information they need to properly and proactively manage their health moving forward.

At St. Elizabeth Healthcare, newly diagnosed breast cancer patients will meet with a genetic counselor during their initial breast surgeon appointment.

During your meeting with our genetic counselor, you will:

Once this information is reviewed and you decide to move forward with the genetic testing, a saliva sample will be collected. Our genetic counselors will also discuss the results timeline with you, which is typically two to four weeks, as well as how the results will be communicated to you. Additionally, GINA law (Genetic Information Nondiscrimination Act) and any insurance questions will be covered during this appointment.

Patients occasionally opt out of genetic testing after meeting with St. Elizabeth counselors and thats ok.

Genetic testing is a personal decision, says Justine. Patients are given the option to proceed with testing. If they decline to test, we provide our contact information and a brochure in case they decide to proceed at a later date.

Reasons for opting out include feeling too overwhelmed at the time, concern about out-of-pocket costs and family members not wanting to know the results of the testing.

No matter what your decision, our expert team of genetic counselors are here anytime to answer any questions or concerns you may have. Please call (859) 301-GENE (4363) to speak with a genetic counselor or to learn more about the Hereditary Cancer Program.

Healthy Headlines: Breast cancer genetic testing: What you need to know to make an informed decision - User-generated content

Coffee therapy for rare genetic disease related to violent and involuntary muscle movements – BusinessLine

The morning Cuppa Coffee, with its caffeine is proving to be a simple therapy in the taming of a rare, involuntary movement disorder, that had defied treatment.

A 33-year-old patient from Bengaluru in October and an 11-year-old child from Paris in June, benefited from this fluke or chance treatment, according to scientists.

The efficacy of caffeine as a treatment of dyskinesia,caused by a mutation in the ADCY5 gene is causing waves in medical circles.

Dyskinesia refers to a family of disorders characterised by violent and involuntary muscle movements.

Caffeine is known to be against adenosine. Thus it prevents formation of excess cyclic AMP, which is responsible for the involuntary movements, by inhibiting its synthesis through blocking of adenosine receptors in the brain.

Scientists at the Centre for DNA Fingerprinting (CDFD), Hyderabad presented the case of 33-year-old Ramesh (name changed) who complained of involuntary movements of the limbs and face since the age of five.

This would occur 10 to 15 times per day and last for a few minutes. They were also affecting his daily routine. Such features are termed as 'paroxysmal dyskinesia'. Alterations in more than 12 genes are known to result in this phenotype.

Since many genes needed to be tested, an advance genetic testing method, called exome sequencing analysis was done by a team led by Aswin Dalal, Head, Diagnostics Division CDFD to identify genetic basis in this patient. The sequencing revealed a mosiaic mutation in ADCYS (adenylate cyclise) gene.

Ramesh had consulted neurologist Kuldeep Shetty and medical geneticist, SJ Patil at the Mazumdar Shaw Medical Centre, Narayana Hrudayalaya Hospitals, Bengaluru.

His condition is not very responsive to the currently available medication (like benzodiazepines, betablockers, tetrabenazine, anticholinergics etc).

The CDFD scientists, inspired by the case study in France decided to try out the coffee regimen. They found to their surprise a 90 per cent reduction in his involuntary movements within few days.

Although novel therapies are being developed for some genetic diseases, they are very expensive and and are not accessible to the public. "An accurate diagnosis of genetic disease is very important for proper management and prognosis," they said.

In June 2019, a group of scientists from France reported an unusual case. They found that in a family, the father and daughter were affected with a rare, involuntary movements. They were also having a mutation in the ADCYS gene. However, the consumption of coffee lead to a dramatic reduction of unwanted movements.

To cross check the results, they repeated the therapy on an 11-year-old boy with the similar symptoms. The boy was given three doses per day of coffee (in the form of espresso coffee).

To their utter surprise, they found that his had symptoms dropped from 30 bouts per day to one or two brief movements within few days of coffee treatment. Interestingly, the movements re-surfaced when the patient was given decaf coffee and disappeared again when caffeine containing coffee was given.

ADCY5-related dyskinesia is a roughly one-in-a-million disease, and there is no known cure. The gene in its normal state provides instructions for making an enzyme that helps to regulate muscle contraction. The mutation disrupts that process, and caffeine helps to restore.

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Coffee therapy for rare genetic disease related to violent and involuntary muscle movements - BusinessLine

Invitae Needs To Validate How It Really Intends To Make Money – Seeking Alpha

Editor's note: Seeking Alpha is proud to welcome Kerhan Woo as a new contributor. It's easy to become a Seeking Alpha contributor and earn money for your best investment ideas. Active contributors also get free access to SA PREMIUM. Click here to find out more

As a professional in the genomics community, I have been following Invitae (NYSE:NVTA) with great interest. However, I cannot understand why investors are so bullish on its long-term prospects when it continues to see such large losses. There are lots of ideas on how Invitae could become incredibly profitable in the future, but none of these seem validated for their particular circumstances. I wanted to write this article to question the mechanics of how Invitae will become profitable.

Invitae is democratizing germline genetic testing by making it affordable. With its low prices and execution at scale, it has grown revenues quickly. But it still keeps reporting more losses each year.

Source: Invitae 10-K data

This isn't unique to Invitae. Many of their competitors also make increasing losses, such as Fulgent Genetics and several private companies (private data). The exception is Myriad Genetics, which has diversified from the hereditary cancer testing market.

Myriad Genetics aside, Invitae's scale of revenues/losses are greater than many of its peers, as is its valuation. Investors consider its current losses as inevitable as Invitae invests extensively to maintain its growth trajectory. This is much like many other "tech" stocks; Invitae seems highly valued because fast growth in a nascent market might translate into market dominance, profitability and/or a high-valued acquisition. This figure shows how new tech markets develop over time with a winner-takes-all outcome, while the market becomes more highly valued. In the genomics industry, many of us suspect this could happen too for germline testing.

Source: PlayBigger

In addition, tech stocks often command higher multiples because their fixed costs are low, there is long-term value in the data that is being collected, and the marginal cost of adding new customers is low. Tech companies are given flexibility by their investors to sacrifice profitability at each transaction to prioritize growth as they plan to use the collected data as a revenue-generating asset.

There are reasons to be optimistic that this could happen for Invitae too. The germline testing market is indeed growing fast as reimbursements increase and expand, there is increasing awareness of genetic testing in the broader medical community, and Invitae has built a good brand and service globally.

However, as investors you may want to consider these risks.

Tech companies form monopolies because of some type of moat.

Companies like Genomic Health and Myriad Genetics also sell genomics tests, however their emphasis is on products that give them a competitive edge with discernible scientific differences. This could be through lab-developed-tests based on processes from discovery through to validation and reimbursement, and then applying a "blockbuster" financial model.

Invitae in comparison competes in the germline testing market, where there is limited differentiation between tests, creating a commodity market. These labs set up tests by assembling a pipeline using established methods that are shared across the community, free or otherwise. For example, these include mostly the same sequencing technology (Illumina), a bioinformatics pipeline often using similar tools (e.g., GATK), variant curation that uses publicly available databases to filter out irrelevant variants and identify suspect ones (e.g., ExAC, OMIM), and a scoring system for pathogenicity that is widely accepted (ACMG guidelines). The closest thing to a competitive advantage in this space is Myriad Genetics' database of BRCA variants, a large number of which are not shared publicly.

There is limited lasting advantage to be gained by Invitae in performing more testing than their competitors. Comparisons with Amazon's one-stop-shop model isn't appropriate. Amazon is a channel. Genetics is a small part of most physicians' day, so it is not likely to become a channel in the same way. If anything, the one-stop-shop needs to be a big pathology company (e.g., LabCorp or Quest), a channel that has integrated the genetic testing capabilities of Invitae.

Besides, in germline testing, loyalty is often attached to low prices. This has been shown by how easily Myriad Genetics' market has eroded once their customers were offered cheaper options.

Some labs may fine-tweak this better than others to improve efficiency. However, this does not manifest as a competitive advantage. Customers rarely do "bake-offs" to see which lab performs better for a range of difficult cases. Turnaround times are usually 2-6 weeks, with only limited demand to make this even quicker. At best, one could argue that it cuts down on costs and therefore prices, which has become Invitae's key differentiation.

Invitae's success is based on taking an established market and growing with it. Because of the lack of differentiation in this market since AMP vs. Myriad, market-leading low prices have helped grow Invitae's contracts with insurers and institutions. This is reflected in how Myriad Genetics' cancer revenues started to decrease after Invitae and others emerged with lower prices.

Source: Myriad Genetics 10-K data

An average COGS of $252/per sample compared with ASPs of $440 is too simplistic a calculation because some of their tests have multiple prices, and with the introduction of NIPT and whole exome sequencing, the cost basis for some for their tests varies. Some of their prices have been broken out in a previous Seeking Alpha article, which demonstrate how Invitae is selling below their cost for some of their tests and rely heavily on Medicare (and investors for that matter) to subsidize their price sensitive customers.

The most obvious example of selling below cost is their private-pay NIPT solution that is outsourced to Illumina at a cheaper price than what Illumina charges. I'm aware the typical prices for NIPT are higher, and Invitae also implied this in their earnings call explaining that their average COGS (currently $252) had actually increased in part due to NIPT.

Through my experience working for instrument vendors and also the labs, through several off-the-record conversations with many of their competitors globally, the gossip is that Invitae is boldly selling below cost when it needs to. I've heard that one of their competitors have considered making an official complaint about this in the country they operate in. And when I asked one of Invitae's sales reps about this strategy at a conference, she smiled nervously and crossed her fingers.

You may also want to consider this: Invitae currently makes >93% of their revenue from US markets, which for now is great for them because outside of the US they tend to sell their tests at $250. However, about half of the global market for genetic testing is outside of the US (depending on the report you read), so if they need to continue expanding, their ASPs could drop further.

At the same time, how much R&D and sales & marketing costs can they strip away? Because of its valuation Invitae also needs to maintain its growth trajectory, cutting down on these areas creates risks to their long term growth. Contracts will give them some immunity to competition, but for how long if other competitors start to provide even lower prices?

Invitae has done an admirable job to grow as they have over the last few years. But how much more funds do they need to raise to keep this up? At what rate must they continue growing at to maintain your optimism, and for how much longer, before they demonstrate how they can convert their market dominance into sustainable profits?

I don't know the answer to that. But in echoing a recent tongue-in-cheek article from The New York Times, I do know that there has never been a better time for a patient without insurance coverage to get a genetic test.

The genomics market has grown at phenomenal rates regardless of which marker you want to use. 30% per year could be inferred from Illumina's data, which is much higher than pathology in general, which for example is in the single digits for Quest and LabCorp.

There is no doubt that some areas of testing will grow fast. But only a handful of Invitae's tests have actually progressed through to routine use. A market for a pathology test is created by meeting milestones, more or less in this order: analytical validity, clinical validity, clinical utility, professional guidelines, and finally reimbursement. In different geographic regions, different germline tests have been taken through this journey. As controversial as Myriad Genetics have been, we can thank them for helping to developing the acceptance of testing for hereditary breast and ovarian cancer.

Although Invitae is trying to help generate evidence to influence professional guidelines, it is not feasible to try moving the market towards reimbursement and regular usage for all their tests. Therefore their growth challenges aren't competition with other labs, but are (a) tests that aren't reimbursed and/or (b) physicians not ordering the test when they should.

To understand (a), we can use Myriad Genetics as a comparison. Myriad Genetics identifies clinical areas of interest and develops a specific test following the process described above, validating it extensively. This will help provide evidence to influence professional guidelines and eventually get some reimbursement approvals for their unique test. This model has its own risks - it relies on trials and is very slow - but to some extent, these market factors remain within their control.

On the other hand, "by leaning on well-scrubbed, publicly available data from studies of gene variants and rare disorders, Invitae doesn't need to run lots of expensive clinical trials on its own." This suggests Invitae relies on the various markets to mature on their own, without having to contribute extensively. Whether a test for say, dilated cardiomyopathy, is considered essential and not just investigational to justify reimbursement, is not in Invitae's area of influence.

To understand (b), one the biggest problem we have in germline diagnostics is tests not being ordered when they should be. Outside of the well-known areas like cancer, when a physician comes across appropriate patients they might not remember, or even want to use the test.

Invitae themselves are aware of this risk, stating that "clinicians in other areas of medicine may not adopt genetic testing for hereditary disease as readily as it has been adopted in hereditary cancer."

Not using a genetic test may not be detrimental for patients. Often, a genetic test is seen as supplementary to the diagnosis. A patient with dilated cardiomyopathy for example, can be diagnosed and managed without germline testing. Yes, a test would help, especially to identify which of their family members are at risk. But quite often, a cardiologist can make the diagnosis without genetics. It is not essential in most cases that they see. This isn't to say that cardiologists aren't ordering these tests, but it may take a while before the majority of cardiologists start to do the same. Genetic testing instead will be taken up where it dictates treatment such as for hereditary breast and ovarian cancer. But unfortunately, many germline tests are not paired to treatment outcomes.

There's a lot more cancer testing to be done, but Invitae's growth can't just be through cancer. Quoting Invitae again: "A lack of or delay in clinical acceptance of broad-based panels such as our tests would negatively impact sales and market acceptance of our tests and limit our revenue growth and potential profitability." For that to happen for other diseases, the rate of reimbursement and broad changes in physician practice may be the limiting step.

There are other ways to grow Invitae's markets, and the direct-to-consumer (DTC) market is being considered. However, expectations need to be managed. The DTC market has grown, but most of it is for ancestry uses. Color Genetics started out focusing on reaching women and offering BRCA testing at low prices, but has had to expand its markets from the DTC market to other ones, suggesting limits to their initial market. Sema4 have articulated their difficulties in this market too. Invitae may be able to learn from these companies and get a better shot, but it won't be without increasing competition from ancestry companies themselves expanding into healthcare services.

Tech companies have relatively low fixed costs. Frankly, they don't have to sequence each user's DNA and there is supplier competition.

I don't mean to state the obvious, but unlike traditional tech companies, Invitae and others in this industry have high costs to collect, sequence, and analyze each new "user." Health datasets are arguably more valuable than social media ones, but it costs a lot more.

Sequencing costs aren't coming down as quickly as it did previously. Over 2007-2015, the cost of sequencing plummeted, but this has since tailed off.

Source: National Human Genome Research Institute

Illumina in recent years does not feel the same competitive heat they did a decade ago. Although they still have competitors in their research markets, none are close to breaking in on their grip on the clinical market. This has been demonstrated many times but most recently with Qiagen ending their own sequencer's developments and instead partnering with Illumina. As a monopoly, Illumina gets to choose when to develop lower-cost sequencing, and have previously shared that they first need to investigate the elasticity of the clinical market. In the meantime, they can continue to be the arms suppliers for all parties in this price war.

There are other costs that can't be whittled away much further, such as library prep, collection costs, and staff time. As a result, there is a floor that probably isn't too far away.

If data is expensive to generate, what is this data that Invitae is getting?

It is not yet clear how much of the data Invitae has can be reused. Patients can opt out of having their data re-used, and in Europe patients have to opt in.

Consent for further use of data is taken more seriously in the medical community than in the DTC market. Physicians I've met don't sign their patients up for data exchanges, they simply want a test that is performed for the one question they are trying to answer at that point in time. This is important to understand. Even in a values-outcome healthcare system that we are moving into, pathology is still a question-then-answer model between a physician and the lab, not this multi-use and multi-direction relationship between several physicians, the lab, and their patients. This may limit the allowance provided to Invitae to re-use the data, even when de-identified.

Invitae uses a large sequencing panel to generate data for the patient being tested. This may have changed recently with more and more labs running all tests on whole exomes so that the data is uniform, but reading between the lines into Invitae's marketing materials and their COGS suggest that this isn't routine yet. This means that the data they are collecting is both lacking (by sequencing panels only and not the whole exome or more) and likely inconsistent, reducing the power of the dataset they are amassing. Genomics England in comparison sequences the entire genome for all their patients.

In addition, it is not clear how much clinical data Invitae is getting with each sample, which is crucial to bring meaning to the genomic data. Although physicians are encouraged to provide as much information as possible when a test is requested, my experience is that most of the time you just get a few relevant snippets of information. It would be specific to the clinical indication relevant to the test ordered, not across a whole range of medical information. For example, a patient may get tested for the breast cancer genes, so Invitae may collect information on their breast cancer diagnosis, personal, and family history. But would they get information on other medical conditions deemed irrelevant at the time? Would they get updated information after the test is performed and there is no more interaction with the lab? I doubt it, because Invitae's customers are in the business of diagnostics, not research.

The research arena is designed to generate genomic data paired with a rich treasure trove of clinical data that is also longitudinal. This is what "population genomics" is about, and the high water mark is the UK biobank where an extensive number of participants are documented extensively. Illumina is tracking about 50 other programs and many of these are undertaken by healthcare systems themselves because of the extent of data required and the research context.

Invitae and other labs are also getting into this business to support these projects. These include Color Genomics and Helix - both of whom had to expand upon their earlier business models to both grow revenue and collect more data. But I haven't seen evidence to suggest that Invitae has taken any sustainable leads here.

Finally, if data is their play, I cannot fathom why they got into the NIPT market given the genomic and clinical data they would get from each patient will be limited.

If Invitae sells lower-than-cost tests even when they operate on their scale, and without a moat they cannot just flip on a switch and raise their prices once they take a monopoly, they have to use this data for some future revenue stream. What are their options?

Sales of datasets to pharma:

Pharma companies benefit from these datasets to help them identify potential drug targets (e.g., what variants are correlated with a symptom that could be targeted) or to identify patients (e.g., which diagnosed patients with a relevant mutation they could trial a new drug on). One early example of this first model is Amgen purchasing deCode back in 2012 for its database, although I have been told that this has not led to much return on investment.

Invitae's datasets may not be fully consented for their research use, and may have patchy genomic and clinical information. 23andMe in comparison has built a product for this business model, collecting extensive non-genomic information from their patients. Although their genomic dataset is sparser, it is generally consistent.

From an R&D perspective, if pharma had to choose which was more important, they may prefer better clinical information linked to sparse genomic information over deep genomic information linked to sparse clinical information. This is because the clinical information helps them identify disease/symptoms/patients, while 23andMe's genomic information might provide sufficient "tags" that they can drill down on later. The genomic dataset from 23andme, although sparse, has the advantage of being genome-wide and the tool they use is designed for this purpose. I am not sure whether 23andme generates useful clinical information - I imagine it is hard through a DTC setting - but perhaps it is more harmonized between samples because they are in direct contact with their customers. Overall, this tells me that while Invitae could try selling to pharma companies, it remains to be seen what advantage they have and whether pharma will continue making these investments.

The alternative for pharma is to generate this data themselves, as Regeneron are doing.

Sales to pharma to help them generate data:

If pharma decides to generate their own dataset, they might outsource the collection, data generation and data analysis. This is what several of Invitae's competitors do too, including Fulgent Genetics (NASDAQ:FLGT) and Centogene (OTC:CNTG).

I've noticed in comments across SeekingAlpha articles that these two services to pharma are often confused. This second example has little to do with Invitae's dataset, but more to do with treating pharma as an institutional customer and providing "sequencing-as-a-service." This is a hotly contested market as non-clinical labs also compete in this space - these are the labs that hold the vast majority of Illumina's sequencers. If you thought germline testing was a race to the bottom, this market is probably already at the bottom and will bring down a lab's ASPs even further. This is not the market you growth investors are looking for.

Selling re-usable pathology tests to doctors:

I said that pathology is a transaction business model at present, rather than this multi-sided, multi-use model. The truth though, is that many doctors would love to see this new precision medicine future where pathology does not follow a use-and-dispose model.

This fits with Invitae's "Genome management" future, where the data is potentially re-usable but Invitae has not described in much detail how this will all work. This future will no doubt come in some shape or form, but the size of this change is monumental.

Source: Invitae Q2 2019 slides

It is beyond the scope of this article to describe on how a healthcare system might go through such a large, large, change. It requires changes in the way reimbursement works, the way EHRs work, and the way physicians are trained. It will likely need large numbers of trials and other data to validate this new approach, and cross-functional cooperation and funding on an enormous scale. There are studies being completed but who can say how long this future will take to be prepared? While this is the dream for medicine and a key reason I work in genomics, the system is not in place yet and there are no consensus road maps on how we reach this "genome management" future.

This is similar to the ideal future of all of us using fully driver-less cars one day. The technology for cars seems to be getting there, but this is not the only critical development required. There are factors like infrastructure, incentives, habits, etc, that also need change but aren't easy to. Illumina recognizes this too, and this may have played a factor as to why it hasn't prioritized dropping their prices.

By being the central testing lab for a range of genomic tests, Invitae will no doubt be a valuable company when this future arrives. But they need to be careful to avoid being a "Moses company." Moses featured in the Bible's Old Testament with a vision to bring his people to a new Promised Land. Although the vision was accomplished, he died before it came to pass, and instead his successor was the person who brought the people over. Invitae's vision is inspirational, but will they bring us to this Promised Land, or will they instead be laying the groundwork for other labs to do so?

I think that while monetizing data might be a useful trick to keep up its sleeve, without a validated monetization model that will work for their particular set of opportunities and challenges, Invitae might need a more mainstream business model to reach profitability to fall back upon.

Could it continue to grow as a pathology company? Invitae doesn't seem to want to compare itself to the Quests and LabCorps of the pathology industry. But if it wants to reach even more patients, what is the path forward - especially with its financial situation?

It may need to consider selling itself to one of these big pathology organizations. Genomics is an isolated pathology discipline and won't become mainstream until it is integrated with other pathology activities. For example, many pathology tests are ordered in groups by physicians and there is convenience of using the same vendor. These can be linked together so that physicians can "reflex" from one result to the next appropriate test to order. Genetic testing must be included in this pattern in order for it to become mainstream.

For this value to be realized, Invitae could be valuable to a large pathology company, because physicians are more likely to want the "Amazon of pathology," not the "Amazon of genetics." LabCorp and Quest Diagnostics (NYSE:DGX) have already purchased other germline testing labs for this purpose. It is not clear whether this has led to any synergies yet.

Invitae continues to grow its testing volumes quickly, and as a result so has its valuation. But at some point it needs to deliver profitability, either to make money off each transaction, and/or find a new business model. Invitae has grown fast primarily because of its low prices and ability to execute testing at scale. It needs to maintain its low prices because it is otherwise difficult to create a differentiator in this market.

If Invitae waits for reagent costs to go down, it has limited bargaining power, and the floor is near. If Invitae cuts into its fixed costs it runs the risk of slowing down its growth, which is risky given how it is valued. Invitae also needs the market to continue growing, much of which is not under its control.

If Invitae wants to find a new business model to capitalize on its stockpile of data, it needs to articulate this vision more specifically and validate it with the wider healthcare community. If Invitae wants to partner with a large pathology organization, it may need to validate how genetics is integrated with other areas of healthcare.

As we have found with WeWork and other recent news stories, we need to be careful not to value non-tech companies as tech companies. Even though Invitae will benefit from tech - such as its culture and ability to raise funds, it is still hampered by restrictions found in a traditional and slow moving pathology industry, regardless of whether genomics is a little quicker.

Invitae needs to validate how it really intends to make money. I write this humbly acknowledging that I am not in a position to take these questions to Invitae's senior management themselves. And I don't take pleasure in knocking Invitae. I work in their industry, have gained from their contribution, and am excited by their growth and success. However, if you are an investor who believes that Invitae's valuation will continue to rise because it is dominating a fast-growing market and collecting interesting data, make sure you ask hard questions about how this can be materialized into profits.

Disclosure: I/we have no positions in any stocks mentioned, and no plans to initiate any positions within the next 72 hours. I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

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Invitae Needs To Validate How It Really Intends To Make Money - Seeking Alpha

Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting – BioSpace

SALT LAKE CITY, Oct. 28, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that it will present results from seven studies at the 2019 National Society of Genetic Counselors (NSGC) annual meeting being held Nov. 58, 2019 in Salt Lake City.

"We are excited to present new data from seven studies at this years NSGC meeting," said Susan Manley, MS, CGC, MBA, senior vice president of Medical Services at Myriad Genetics. Our presentations highlight the companys commitment to advancing precision medicine in oncology and womens health.

A list of presentations at 2019 NSGC is below. Please visit Myriad Genetics at booth #711 to learn more about our leading portfolio of precision medicine products. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #NSGC19.





About Myriad myRisk Hereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.

AboutForesight Carrier ScreenThe Myriad Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions. Foresight has a rigorous disease selection that focuses on 175+ conditions that provides meaningful information to patients. Additionally, Foresight offers superior technology with unmatched detection rates for the vast majority of genes on the panel (>99% across ethnicities) which means patients can trust both positive and negative results.

About PrequelTM Prenatal ScreenThe Myriad Prequel Prenatal Screen is a noninvasive prenatal screen that uses cell-free DNA (cfDNA) to determine if a pregnancy is at an increased risk for chromosome abnormalities, such as Down syndrome. Prequel has been shown to be superior to screening methods that use maternal age, ultrasound and serum screening. Additionally, Prequel has a lower false-positive rate and false-negative rate than these other methods. The Prequel Prenatal Screen can be ordered with the Foresight Carrier Screen and offered to all women, including those with high body mass index, and ovum donor or a twin pregnancy.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website:

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to data being presented for its genetic tests at the 2019 National Society of Genetic Counselors Meeting being held Nov. 58, 2019 in Salt Lake City; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting - BioSpace

Things to Consider in Genetic Testing –

A two-time cancer survivor learns more about pancreatic cysts and discusses the value and cautions of genetic testing.

Barbara Tako is a breast cancer survivor (2010), melanoma survivor (2014) and author of Cancer Survivorship Coping ToolsWe'll Get You Through This. She is a cancer coping advocate, speaker and published writer for television, radio and other venues across the country. She lives, survives, and thrives in Minnesota with her husband, children and dog. See more at,or

Intraductal Papillary Mucosal Neoplasms in my pancreas are the latest "lovely" thing that cancer has brought into my life. Well, it is not my first time around - I have already had breast cancer and melanoma. My particular IPMNs may not be or ever become cancer, and yet they subject me to play the "wait and watch game" with one more cancer-type thing.

If you are a cancer survivor, you know how that gameworks - try to move forward with life while not pre-worrying too much. How were my IPMNs found? I had a screening MRI because of my PALB2 genetic cancer mutation. Sometimes IPMNs are found by accident when having an MRI for an unrelated reason. Gotta love technology!

The way one doctor worded it, I was fortunate to have the PALB2 genetic mutation that prompted the MRI that caught these three IPMNs so early and will result in continued monitoring. Cancer survivors all learn that cancers caught early often have better outcomes than cancers that have already grown and spread. Pancreatic cancer has a poor survival ratebecause it is often caught too late. There is a moral to that story that I want to shout from the rooftops: Please, please see a geneticist and have genetic testing done!

Still, there is a potential dark side to genetic testing. It sounds like if a person has a genetic finding and wants to have children, they may be able to screen out embryos that get the mutation before implanting them. Hm. Hey wait a minute:I would have been one of those screened-out embryos if the technology had existed back in that day and my parents had chosen that route. So, yes, genetic testing is a choice,but meeting with a genetic counselor before the testing is decided upon is also very important.

There are many questions to consider before even getting testing done. To test or not to test? How much do you want to know? What happens once that knowledge is out there?A person can't be discriminated against for health care due to genetic test results, but life or disability insurancecoverage, among others, may be a different story. Also, if you choose genetic testing, how often do you go back and get re-tested? Exciting advances are happening rapidly in this field. When I first got tested nine years ago, they only tested a couple of breast cancer genetic mutations. My latest genetic test looked for nineteen mutations - and found my PALB2!

Of course in my case, I GoogledIPMNs and learned lots of frightening stuff before I met with the pancreas specialist. For IPMNs, location and size matter, and I am fortunate that mine are very small and not in worrisome locations. They are also too small for fine needle aspiration or surgery. I will have another MRI in about a year to watch for changes. This means that if they do start to appear cancerous, I may have surgical options to consider which might, in my case, provide a better prognosis than usual for pancreatic cancer.

Genetic testing leaves me optimistic, grateful, and yes, cautious. Please be careful out there, make thoughtful choices, and be sure your sources of information are reliable.

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Things to Consider in Genetic Testing -

Basepaws’ $99 Cat DNA Test Tells You What’s Truly Wrong With Your Cat – WIRED

If youre a dog owner, you can buy your pet bespoke treats, you can put them in a red vest and take them everywhere you go, and you can accessorize them to the hilt. Cats rarely get in on this fun (only a self-hating feline will allow the application of a costume), so the industry tends to leave them behindwhich is probably just what they want.

Look, we get it. Your dog loves you and is your proverbial best friend. Cats are cruel and soulless. And yet, millions of us simply prefer the company of felines, and its not just because your dog smells bad and drools all over the place. Its just in our DNA.

Speaking of which, while dog owners have scads of options for testing their pups DNA, cat owners have largely been left out in the cold by the genetic testing industry. And while most cat owners arent dying to get on the cloning bandwagon the way dog owners are, that doesnt mean we dont want to know more about our pets heritage and health, even if science could care less.

We have two cats, but when my wife and I talk about genetic questions, they revolve around Saffy, our 6-year-old specimen who most would charitably describe as a mix. Shes about eight different colors, with an orange splotch on her back and another on one ear. Equally charitably, one would say she is eccentric. Few believe me when I say that she spends all day in our bed, under the covers. I mean all day: She crawls in around 8 am and doesnt come out until 5 pm. And she is absolutely terrified of everything. If a delivery driver pulls into the driveway during her awake hours, she runs to the safety of the covers. The doorbell throws her into a full-on panic. My wife says shes a babe.

Photograph: Susanne Bergstrom Null

I write all of this because I have a lot of questions about Saffy. What kind of cat(s) is she? And why is she such a freak? Could it be a medical condition?

Enter Basepaws, one of a very small number of services that promise to sequence your kittys DNA, revealing information about both breed and ancestry as well as scanning for numerous markers that could indicate elevated risks for certain diseases. If youve ever taken a human DNA test, you know how this goes. You swab the inside of your cats mouthnot hard if you have a helperand drop the swab into a test tube. You then mail it off to Basepaws and wait for the results to come back.

We swabbed, mailed, and waited, and eventually I received Basepaws report in two pieces. First came the health results, then the genetic report was later appended to it. The report takes the form of a massive PDF34 pages long for lil Saffand it certainly feels full of information. The health data is weighty, including information on 17 diseases based on 39 genetic markers. I was surprised, but happy, to see that Saffy was in the clear on all of them, with no risks noted. She wasnt even a carrier of any genes that would put her at risk of disease, though Saffys clearly not meant for breeding. From polycystic kidney disease to mucopolysaccharidosis, Saffy appears to be free of major ailments and is destined to have a long and happy life ahead of her, safely tucked away in bed.

The breed report is somewhat more complex and is indicative of the general lack of available scientific information about cat breeds and ancestry. An introduction in the report notes that cats are comparably wild in comparison to dogs and other animals, that theyve not changed all that much in thousands of years. And while cat breeds are definitely a thing, by and large cats just arent bred nearly as much as dogs are. The result: 95 percent of cats in the world are of mixed breed, referred to in the report as polycat.

Polycat doesnt mean a mix of a couple of known breeds, it basically means a mix of all the breeds. Its the common part of the genome that the reference genome (felis_catus_9.0) doesnt really have enough information about. The genes in the polycat segment could relate to Russian Blue, or they could be Egyptian Mau. They just dont know yet. Sure enough, Saffys reportand I expect most reportspeg her at nearly 46 percent polycat.

The rest of the report is where the fun is, with Basepaws breaking down the breeds into four major groups: Western, Eastern, Persian, and Exotic. Saffys other 56 percent has traits related to all four of these groups, and her mix of those groups is roughly 37, nine, six, and three percent, respectively. Basepaws then breaks down those four breed groups by detailing three to seven cat breeds within each. These are ranked based on similarity to your cat, though you dont exactly get a specific breakdown like you do with, say, While Basepaws tells me Saffy is mostly Burmese within that 9 percent Eastern group, theres no estimate that shes, say, 6 percent Burmese overall, which would be a lot more fun.

Photograph: Basepaws

Basepaws does get to this information in a sort-of roundabout way in full-page descriptions of each of the top four sub-breeds under the four main categories. So for Saffy, that was American Shorthair (of course), Burmese, Bengal, and Exotic Shorthair. On the relevant page, Basepaws tells me that Saffy is more similar to the American Shorthair than 72.76 percent of all other cats in our database. Thats interesting, but it ultimately tells me more about the Basepaws database than Saffys genetics. Shes 54.67 percent more similar to a Burmese than all the other cats in the Basepaws database yet only 9 percent of her genetics are even in that family. In fact shes also more similar to both Bengal and Exotic Shorthair than more than 50 percent of cats in the database, which would seem to indicate shes got a lot of different cat types in her. Essentially shes the everything bagel of cats.

The Basepaws report can be a bit confusing, and it doesnt feel complete in large part because it cant be complete. Theres just not enough information about cat breeds available to make for a full picture. Basepaws notes that as it collects more data, it will be able to chip away at that polycat component, though some updates will cost extra (pricing is still being worked out).

As curious as the Basepaws report is, the company still seems to be having some growing pains. It took two months for the health report to come in, and nearly another month to receive Saffys genetic profile. Thats a long time. In cat years thats like 18 months.

At $99, Basepaws is priced the same as AncestryDNA (for people), though its still the least expensive and seemingly the most full-featured cat DNA testing product on the market. HomeDNAs Cat DNA kit runs $125; Optimal Selection has a $100 kit targeted mainly at breeders, and those are the only other options Ive been able to find. Any way you cut it, DNA testing your kitty is a pricey affair, though those concerned about hereditary diseases may find the added peace of mind more than worth it.

Your cat, of course, could not care less.

Basepaws' Cat DNA test is available directly from the company's website, or from Amazon.

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Basepaws' $99 Cat DNA Test Tells You What's Truly Wrong With Your Cat - WIRED

Ancestry’s DNA health screening to require a physician’s order – The Union Leader

DNA testing giant LLC is entering the growing and potentially lucrative field of genetic health screenings with a strategy thats markedly different from that of its biggest competitor.

Ancestry said last Tuesday that its new consumer health tests an area the genealogy-focused company has been slow to embrace will require authorization by a physician.

Its main competitor, 23andMe Inc., went through the lengthy and expensive process of getting approval from the U.S. Food and Drug Administration so it can sell its tests directly to customers without a prescription.

The involvement of doctors in Ancestrys tests places it in the midst of a debate over whether physician-ordered genetic screening is merely a way for companies to avoid the regulatory scrutiny of the FDA. Several other DNA startups, including Color and Veritas, also require a doctor to order health tests.

The FDA hasnt intervened in the field of physician-ordered genetic tests, although it has signaled an intent to do so. So far, a doctors involvement has been considered enough protection for consumers, even if a patient has little interaction with the physician. Its unclear whether the entrance of a major player like Ancestry might change that.

I suspect that FDA is going to eventually do something as these tests begin to enter our world in a big way, said Robert Cook-Deegan, a professor at the University of Arizona who studies genome ethics and the law.

Ancestry Chief Executive Officer Margo Georgiadis said the company wanted to focus on providing ways for its tests to integrate easily into the care patients receive from their regular doctors.

Thats really why we chose a path that has a doctor, she said, so that the consumer not only can find out a risk factor, but they can seamlessly take a lab report with clinically recommended guidelines into the doctors office so that theres a clear next path for action.

After ordering a health DNA test from Ancestry, customers must fill out a brief medical history survey, which Ancestry then funnels to an outside network of doctors and genetic counselors employed by PWNHealth LLC to approve the test.

Once the results are in, those doctors review them and make sure that patients receive the appropriate educational materials alongside their results. For example, if results show a harmful variant of the BRCA 1 or 2 genes, a customer would receive a video explaining hereditary breast and ovarian cancer syndrome. Its a model similar to that followed by other genetic-testing companies.

Ancestrys health tests include free access to a genetic counselor. And before disclosing potentially troubling results, the company requires consumers to watch educational material about the condition. The reports also include clinical reports that a customer can share with their doctor.

If you have a finding thats important, you will have all the tools you need to learn more about it, said Catherine Ball, Ancestrys chief scientific officer.

But according to Cook-Deegan, the university professor, most consumers may not understand the limitations of the test.

A lot of whether this is a good thing or a bad thing depends on the quality of their testing, he said. It depends on the degree to which those physicians are really involved and the degree to which the genetic counseling is truly incorporated into the process.

Companies that offer genetic testing outside of the health-care system should be expected by regulators to show that their tests can successfully be integrated into that system in order to actually improve customers health, said Michael Murray, the director of clinical operations at Yale Universitys Center for Genomic Health.

I havent seen anything from a company thats doing this from outside of health care that demonstrates anything, he said.

Lehi, Utah-based Ancestry entered the genetic-testing market seven years ago, and with more than 15 million kits sold has become the dominant player in the ancestry DNA testing space.

In its move into health testing, it will introduce two products. Its less-expensive version, AncestryHealth Core, made its debut Tuesday. For $149, it delivers information about a handful of disease risks and health conditions, including breast cancer, as well as the original ancestry test.

A premium product, AncestryHealth Plus, which will launch early next year. It will decode the genome in far greater detail. It will cost $199, with a membership fee of $49 for six months of updates.

Georgiadis said the company didnt plan to seek FDA approval for its tests anytime soon.

Were a consumer-centric company, she said. And I truly believe that business models drive behavior. Our goal is to help people gain the preventative knowledge so that they personally can take action for their health.

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Ancestry's DNA health screening to require a physician's order - The Union Leader

62-year-old woman meets Durango father for the first time – The Durango Herald

Genetic testing promises customers insights into ancestry and potential health risks. But for one Durango family, the testing also identified a new family member.

Lindsay Breed, 32, sent her saliva sample to 23andMe, a genomics and biotechnology company, two years ago to learn more about her predisposition to certain health conditions.

About a year later, in September 2018, Breed received a message through 23andMe from Jean Griffin, 62. Griffin reached out to Breed to say she thought she might be Breeds first cousin based on their DNA test results.

But the three-decades age difference between Griffin and Breed was too great. Breed and her mother, Lori Moss, looked deeper into the DNA match and family ancestry and determined Griffin must be Moss half sister.

A phone call settled the question.

I pretty much knew right away she was related to me, there were so many similarities, said Moss of Durango.

Griffin and Moss have the same height, shoe size, walk and sense of humor, she said. All qualities they inherited from their father, Clifford Carlson of Durango.

Griffin, Moss and their brother, Gregg Carlson, all clicked and still talk regularly. The three all grew up in the same area despite never knowing each other Moss and Gregg Carlson in Long Island and Griffin in Connecticut, where she still lives.

I feel like I hit the jackpot, Griffin said.

Clifford Carlson, 84, had no idea Griffin had been born as a result of a brief and casual relationship, Moss said. When Moss broke the news to her father, he was stunned, but the next day he called Moss back and asked for Griffins phone number.

Griffin and Carlson met for the first time this summer at Durango-La Plata County Airport.

It felt like an out-of-body experience, Griffin said.

Griffin knew she had been adopted and requested information about her birth parents 20 years ago through a TV show. But she didnt keep looking for information because her adoptive parents were still alive. She initially took a genetic test because she was interested in finding out more about her ancestry, but then she found her birth mother. She took the 23andMe test because she was interested in what more she could learn about her family history.

As genetic testing increases in popularity, its likely many other families are making similar discoveries all the time. At the beginning of the year, an estimated 26 million people had taken tests through four DNA testing companies, according to MIT Technology Review.

Moss advises those interested in taking a DNA test talk with family members about it.

Family members should reach out to other family members and say: I am about to do this. Are you going to be OK? Are you going to be OK if I find some hidden relatives that you didnt know about? Moss said.

If test-takers are hopeful about finding relatives, Griffin said they need to be ready for all kinds of outcomes.

It can be disappointing. ... There is a lot of not-so-good scenarios, she said.

Griffin said she approached her birth family just hoping to get to know them. She feels she got lucky.

They have been nothing but wonderful from the word go, she said.

Moss said when she first learned about Griffin she tried think about the situation from her sisters perspective.

If I was her, I would want to know my biological family, too, she said.

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62-year-old woman meets Durango father for the first time - The Durango Herald

Sinclair Cares: Genetic testing can help you check your risk of getting breast cancer – News3LV

  1. Sinclair Cares: Genetic testing can help you check your risk of getting breast cancer  News3LV
  2. Sinclair Cares: Breast cancer genetic testing  NBC 15 WPMI
  3. Expert Discusses the Selection of Individuals for Germline Testing Based on Breast Cancer...  Targeted Oncology
  4. Testing for Honesty
  5. Using genetic testing to possibly prevent breast cancer  KATC Lafayette News
  6. View full coverage on Google News

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Sinclair Cares: Genetic testing can help you check your risk of getting breast cancer - News3LV

Ambry Genetics Published Data that Finds Adding RNA Genetic Testing Provides More Accurate, Actionable Results for Patients who Receive DNA Testing…

ALISO VIEJO, Calif., Oct. 23, 2019 /PRNewswire/ --Ambry Genetics(Ambry), a leading clinical genetics company, announced today the publication in JAMA Network Open of a study on retrospective RNA genetic testing for hereditary cancer risk. The study reveals that adding RNA testing could provide more accurate results for one out of every 43 patients undergoing DNA testing and could improve medical care. Now, through +RNAinsight,Ambry is the first and only lab to offer a commercially available clinical test to conduct RNA and DNA genetic testing for hereditary cancer risk at the same time.

DNA testing is a powerful tool used to tailor medical care based on an individual's cancer risk. However, standard DNA testing can produce inconclusive results, find a change in our DNA to be a variant of unknown significance (VUS), and fail to determine whether it increases cancer risk. When this happens, healthcare providers might not have the information needed to recommend appropriate preventive and early detection steps, or certain therapeutic treatments, and relatives may not be referred for genetic testing for their own care. Adding RNA to DNA testing can overcome this limitation, providing more evidence that can determine whether a variant increases cancer risk.

In this study, investigators fromAmbry and collaborating institutions (Dana-Farber Cancer Institute, Cedars-Sinai Medical Center, Rutgers Cancer Institute, and University of Kansas Cancer Center) evaluated the ability of RNA genetic testing to help determine whether certain VUSs actually increased cancer risks and whether patient care changed after those determinations.

For a substantial percentage of the VUS tested, the study found that adding RNA to DNA testing determined whether they actually increased cancer risk. Specifically, RNA genetic testing clarified 88 percent of 56 selected VUS, determining that 47 percent were actually disease-causing and 41 percent were benign. In addition, all of the patients whom Ambry previously tested and who had these same VUS, received updated reports. As a result, an additional 88 patients had their inconclusive results clarified as positive (i.e., increased risk for cancer) and 322 had their inconclusive results clarified as negative.

"Adding RNA genetic testing to standard DNA testing for hereditary cancer risk needs to be the standard of care," said Rachid Karam, MD, PhD, Director of the Translational Genomics Lab at Ambry Genetics. "Our data shows +RNAinsight will let thousands of more patients know if they have genetic variations that increase their risks for cancer and take action."

The study also found that determining whether a VUS in fact increases a patient's cancer risk can substantially impact that patient's care. Of the clinicians who received clarified results and responded to a study survey, 44 percent changed their care for patients and 78 percent changed their care for patient relatives. For example, for those patients whose results for the BRCA1 gene were changed from VUS to disease-causing, new recommendations included risk-reducing surgeries and increased cancer surveillance.

When assessing the types of variants identified in a cohort of 307,812 patients who had undergone standard DNA testing at Ambry Genetics for hereditary cancer risk, the study determined that 7,265 or one in 43 patients could benefit from the addition of RNA genetic testing. Given that 700,000 people in the United States are expected to receive genetic testing for hereditary cancer risk in 2019, more than 16,000 individual results could change and be clarified with RNA genetic testing annually.

The study further showed that only 10 percent of patients invited to receive RNA genetic testing after having undergone DNA testing actually sent in samples. Given the substantial loss-to-follow-up from retrospective RNA testing and the proportion of patients estimated to benefit, Ambry has decided to make RNA genetic testing available to all patients at the same time as DNA testing through +RNAinsight, which is now available through doctors and genetic counselors around the country. For more information, please go to

About Ambry Genetics

Ambry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinicallyactionabletest 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 visit

For more information on risk factors for hereditary cancer, please visit's fact sheet on hereditary cancer and genetic testing.

Press Contact:Liz Squirepress@ambrygen.com202-617-4662

SOURCE Ambry Genetics

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Ambry Genetics Published Data that Finds Adding RNA Genetic Testing Provides More Accurate, Actionable Results for Patients who Receive DNA Testing...