New Pre-pregnancy Test May Save Lives, Assist in Creating Healthy Pregnancies, and Dramatically Cut Future Healthcare Costs
Rare genetic diseases like those seen in the new Harrison Ford movie "Extraordinary Measures" can now be detected prior to pregnancy and prevented by performing a simple saliva test that is covered by many insurers.
The movie centers on the real-life efforts of a Connecticut family, the Crowleys, to find a cure for a rare genetic disease named Pompe which affects 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 may be at risk for more than 100 life-threatening genetic diseases such as Tay-Sachs, spinal muscular atrophy, cystic fibrosis and more. Test results are received after two weeks, then discussed and reviewed carefully with your physician. Should couples be at-risk for genetic disease, they can work with a reproductive endocrinologist to screen their embryos through a method called preimplantation genetic diagnosis (PGD). The latest PGD technology allows all 24 chromosomes to be screened for genetic disease before couples pursue pregnancy by implanting embryos via in vitro fertilization.
This Universal Genetic Test was invented by scientists from Stanford and Harvard and brought to the public via a Stanford startup named Counsyl (counsyl.com). It is now offered by physicians at more than 100 prestigious medical centers across the country, including Yale Fertility Center and the Fertility Centers of Illinois (see counsyl.com/map), and has attracted support of doctors from the nation's largest hospitals, prominent academics from Yale, Harvard, and UCLA as well as religious leaders and families with genetic disease.
Dr. Angeline Beltsos, Medical Director of the Fertility Centers of Illinois, supports the Universal Genetic Test in family planning. "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," she explains.
Professor Steven Pinker of Harvard University and his wife, novelist Rebecca Goldstein, took the test last year 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. "Universal genetic testing can drastically reduce the incidence of genetic diseases, and may very well eliminate many of them," according to Professor Pinker.
Rabbi David Wolpe, of the Sinai Temple in Los Angeles, noted a personal story from his congregation: "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."
For additional information and testimonials please visit Counsyl's website at www.counsyl.com. A list of selected clinics is available at counsyl.com/map