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 (counsyl.com).
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 counsyl.com/map),
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.
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