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."