Simple, five minute saliva test to determine baby's risk for more than 100 life-threatening genetic diseases

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.

“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.”

The movie centers on the real-life efforts of the Crowleys, a 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 and social entrepreneurs from Stanford and Harvard and brought to the public via a Stanford startup named Counsyl ( As Newsweek recently reported:

“What is the secret to improving public health while cutting costs? The question has consumed Washington, but it's being answered elsewhere, by doctors offering a new test for more than 100 rare recessive genes, some of which cause fatal diseases. The test, [offered by] Counsyl, lets potential parents assess their genomes to see if their future kids are at risk. ... This is as preventive as medicine gets: the test could eliminate all single-recessive-gene diseases.”

The test is now offered by physicians at more than 100 prestigious medical centers across the United States, including Yale Fertility Center (see, and has attracted the support of prominent academics, bioethicists, religious leaders, families with genetic disease, and doctors from America’s largest hospitals.

Broad Support among Prominent Physicians for Universal Genetic Testing

Dr. Steven Ory, Past President of the American Society for Reproductive Medicine: "After 30 years in reproductive medicine, I am more optimistic about this development in genetic disease prevention than I've ever been before. The vast majority of babies born with genetic disease have no family history. That's why it's so critically important for all parents to get the Universal Genetic Test before pregnancy."

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, Former Chairman 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 direct-to-consumer or '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 & Director of IVF at Shady Grove Fertility, America'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."

The New Standard of Care at the Nation's Largest Fertility Centers

Dr. Angeline Beltsos, Medical Director of the Fertility Centers of Illinois: "Every doctor and patient wants to avoid a high-risk pregnancy. Yet many people don't know that single gene disorders now account for more than 10% of infant deaths. The Universal Genetic Test is the next ultrasound: a non-invasive early warning system for couples to know if their baby is at risk."

Dr. Arthur Wisot, Medical Director of Reproductive Partners Medical Group in Los Angeles: "The Counsyl test is appropriate for everyone trying to conceive because it is the first test that makes it both practical and economical to screen for so many genetic diseases. 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 both common genetic diseases (like CF, SMA, PKU, and beta thalassemia) as well as dozens of rare conditions."

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-pregnancy 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: "The new Counsyl test is the simplest and most cost-effective way to do genetic screening as it checks for over 100 significant disorders with a single saliva sample. Enlightened insurance carriers are paying for this test as it saves them the major future expenses of covering a chronically sick child."

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, 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 to play Wagner's march at our wedding, but said nothing about being genetically tested.’ Ensuring that Jewish couples — and others — are offered genetic testing 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 took the test with his wife, the novelist Rebecca Goldstein. To raise awareness of preventable genetic disease, they are now publicly announcing for the first time that both of them tested positive as carriers for familial dysautonomia. While they themselves are healthy, their children would have been at risk for this life-threatening genetic disease — underscoring that the value of genetic testing is far from hypothetical.




The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News-Medical.Net.
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