Personal genomics is getting serious: Counsyl emerging from stealth mode

Disclaimer: my wife and I have both received and used free testing kits from Counsyl.

Counsyl is a rather enigmatic player in the personal genomics field: apart from a brief mention in Steven Pinker's excellent NY Times piece over a year ago and an even briefer post on a Newsweek blog late last year, the company has been in determined stealth mode for much of the last two years.

All that was publicly known about the company when I wrote about them last year was that they will be offering a large-scale carrier screening test: basically, allowing couples who are considering having a baby to test their genomes for a wide range of severe mutations that might - if both potential parents carry copies in the same gene - result in severe disease in their children. Couples who discover these types of variants could then arrange for pre-implantation genetic screening to be performed during the process of IVF.
While other companies (notably 23andMe and Pathway Genomics) do offer limited carrier testing in addition to their more "recreational" tests (things like ancestry and complex trait prediction), Counsyl's offering is intensely focused: the goal is simply to pick up as many known serious disease-associated mutations as possible.
There are two things I find particularly intriguing about the Counsyl approach. 
The first is that the company appears to have convinced a number of large US insurance companies to cover the costs of the test, making it effectively free to a non-trivial fraction of potential customers; that will make the test accessible to a pretty broad slice of the public. 
The second is that the company will undoubtedly face challenges from various quarters about the ethics of carrier screening. To me all such challenges are irrelevant in the face of the benefits of screening and, as the company's press release emphasises, there will be especially strong benefits of screening for minorities. Nonetheless, it will be interesting to see how this debate plays out over the next year or so.
For the last two years the personal genomics arena has been dominated by the testing of common variants with very small effects; it appears that this is just about to change dramatically.
Here's the press release:
Free with insurance, new pre-pregnancy test saves lives while dramatically cutting health care costs 
STANFORD, California -- January 22, 2010 -- Genetic diseases like those seen in the new Harrison Ford movie "Extraordinary Measures" can now be prevented with a simple saliva test which is free with insurance for more than 100 million Americans.
The movie centers on the real-life efforts of the Crowleys, a Connecticut family trying to find a cure for a rare genetic disease affecting two of the family's three children. The condition wasn't detected until after their children were born. 
Now, couples can take a Universal Genetic Test before pregnancy to determine whether their baby is at risk for more than 100 life-threatening genetic diseases. At-risk couples may then use a well-understood procedure called IVF/PGD to protect their child from genetic disease and ensure a healthy pregnancy. 
This Universal Genetic Test was invented by scientists from Stanford and Harvard and brought to the public via a Stanford startup named Counsyl ( It is now offered by physicians at more than 100 prestigious medical centers across the country, including Yale Fertility Center (see, and has attracted the support of doctors from the nation's largest hospitals, prominent academics, religious leaders, and families with genetic disease. 
Broad Support Among Prominent Physicians for Universal Genetic Testing
Dr. Pasquale Patrizio, Director of the Yale Fertility Center:  "Every adult of reproductive age needs the Counsyl test. It is unusual in that it benefits all three parts of the health care triad: patients, doctors, and insurers. A child stricken by preventable genetic disease often dies in infancy and costs the bereaved parents millions in medical bills. A five minute saliva test that prevents this is a money saver, a time saver, and most importantly a life saver; it really is a no-brainer." 
Dr. Thomas Walsh, Director of the Male Fertility Laboratory at the University of Washington: "Genetic testing has been recommended for all adults before pregnancy since 2001, but like many topics related to planning a pregnancy, awareness of this issue continues to lag. This test covers several key genetic diseases, including cystic fibrosis, spinal muscular atrophy, sickle cell, Tay-Sachs, and many others. The results of testing enable couples to make an informed decision before conceiving a child."
Dr. John Marshall, Chair Emeritus of Ob/Gyn at Harbor-UCLA Medical Center: "Because the test can be taken in the privacy of one's home as well as in a clinical setting, it reminds me of the first 'at home pregnancy test'. This 'at home carrier test' is very similar in that the healthy adults who take it generally test negative, with those who test positive referred for medical followup. It thus completely reshapes the debate over so-called 'DTC' testing -- offering this test over the web as well as in a clinical setting is simply a moral imperative, as it is the only way to get needed care to people in rural areas who may be far away from large hospitals." 
Dr. Michael Levy, Clinical Professor of Ob/Gyn at Georgetown and Director of IVF at Shady Grove Fertility, the nation's largest IVF center: "Parents who know their carrier status before pregnancy can take preventive measures to have a healthy child. Because new techniques like PGD are used before pregnancy, they avoid the ethical dilemma of termination that was previously a roadblock to wider adoption of carrier testing."
Dr. Steven Ory, Past President of the American Society of Reproductive Medicine: "The vast majority of babies born with genetic disease have no family history. However, there are now tests available to prospective parents that can identify couples at risk of producing an affected child. That's why it's so critically important for all parents to get the Universal Genetic Test before pregnancy. "
The New Standard of Care at the Nation's Largest IVF Centers
Dr. Sherman Silber, Medical Director of the Infertility Center of St. Louis, and author of the best-selling book, "How to Get Pregnant": "Every adult thinking about having a child should get the Universal Genetic Test before pregnancy. The standard of care used to be to test at most one disease, and usually during pregnancy when the options were more limited. Now we can give couples this simple saliva test before pregnancy to cover dozens of diseases. It is a genuine breakthrough and one of the first real fruits of the Human Genome Project." 
Dr. Arthur Wisot, Medical Director of the Reproductive Partners Medical Group in Los Angeles: "The Counsyl test is appropriate for everyone trying to conceive because it is the first test that is both practical and economical to screen for so many genetic diseases. Between the Counsyl test and preimplantation genetic diagnosis when positive results are found in both potential parents, couples can now protect their baby from developing any one of over a hundred debilitating and lethal genetic diseases with just a saliva sample. This test is the future of genetic screening." 
Dr. Ian Hardy, Medical Director of Fertility Centers of New England: "We have been offering the Counsyl test to our incoming patients as part of their standard evaluation with exceptional results. It is an easy-to-use saliva test which is covered by most insurance plans and allows couples to be screened for major genetic diseases: cystic fibrosis, spinal muscular atrophy, Tay-Sachs, sickle cell anemia, and dozens more." 
Dr. Kaylen Silverberg, Medical Director of Texas Fertility: "The Counsyl test replaces a battery of more expensive blood tests.  It provides a couple and their physician with much more information for a fraction of the cost.  Counsyl testing represents a quantum leap forward in pre-conceptual planning for couples - especially those concerned about having a child with a genetic disease - as it is safe, affordable, and easy to use." 
Dr. Michael Soules, Medical Director of Seattle Reproductive Medicine: "Our clinic's new Preconception Program offers expanded genetic testing whereby the couple is screened to check that they aren't each a carrier for a serious disorder that could affect their offspring.  The new Counsyl test is the simplest -- using just a saliva sample -- and most cost-effective way to do genetic screening as it checks for over 100 significant disorders with a single sample.  Enlightened insurance carriers are paying for this test as it saves them the major future expenses of covering a chronically sick child."
Dr. Mark Perloe, Medical Director of Georgia Reproductive Specialists: "If you are planning to have children, you need to get the Counsyl test. Georgia Reproductive Specialists prides itself on offering our patients the latest advances in medical science, and we are now recommending the Counsyl test to all patients considering pregnancy." 
An Advance for Women, Minorities, and Families with Genetic Disease
Professor Henry Louis Gates of Harvard University: "As the first genetic test for all ethnic groups, the Counsyl test represents a genuine breakthrough for minority health. With one test for diverse communities, African Americans and Hispanics can benefit from a new technology that actually reduces health care disparities." 
Elena Ashkinadze, Program Supervisor in Genetics at UMDNJ-Robert Wood Johnson Medical School: "Because Counsyl's test simultaneously covers diseases from many ethnic groups at a considerably lower cost than standard blood tests, it promises to make carrier testing affordable for previously underserved patient populations, including African Americans and Hispanics. The current practice is mostly to screen once a woman gets pregnant. With Counsyl's test, we can change the emphasis to pre-pregnancy screening when more options, including preimplantation genetic diagnosis, are available. Ideally, women should understand that having carrier testing before pregnancy is as important as refraining from alcohol during pregnancy."
David Brenner, Director of the Dysautonomia Foundation: "As a parent of a child with a genetic disease, I wouldn't want another child to suffer from what my son has endured. Nothing is more important than safeguarding the health of our children, and this test is such a simple and powerful way to prevent terrible suffering."
Rabbi David Wolpe of the Sinai Temple in Los Angeles: "Several years ago, a mother whose son was born with Tay-Sachs said to me sadly 'The Rabbi made sure to tell us not play Wagner's march at our wedding, but said nothing about being genetically tested.'  Ensuring that Jewish couples -- and others -- are genetically tested is a critical task."
Professor Steven Pinker of Harvard University: "Universal genetic testing can drastically reduce the incidence of genetic diseases, and may very well eliminate many of them." Last year, Professor Pinker and his wife, the novelist Rebecca Goldstein, took the test and learned that they were both carriers for familial dysautonomia. Their children would have been at risk for this life-threatening genetic disease -- underscoring that the value of genetic testing is far from hypothetical.  
About Counsyl
The Universal Genetic Test was developed by Counsyl, a Stanford startup founded by social entrepreneurs and philanthropists. Counsyl's mission is to end the needless suffering of preventable genetic disease. 
To ensure that every ounce of prevention enables a pound of cure, each test taken helps Counsyl fund treatments for children living with genetic disease. More than $50,000 has already been donated to nonprofits over the course of 2009. For the next month, donations will go to the John F. and Aileen A. Crowley Foundation in honor of John Crowley, the Notre Dame and Harvard Business School graduate whose life is the basis for 'Extraordinary Measures'. 
Press Contact
Balaji K. Srinivasan
(650) 733-GENE
NOTE TO EDITORS: For additional information please visit Counsyl's website at A list of selected clinics is available at 
'Extraordinary Measures' is a trademark of CBS Films. Other company, product, and foundation names may be trademarks of their respective owners.
Note: comments on this thread are disabled as I am currently on holidays and unable to moderate them.

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