New option for Jewish genetic testing

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When a Jewish couple is planning their wedding or anticipating starting a family, they probably arent thinking much about rare genetic conditions. But JScreen, an educational and screening program, urges couples to add genetic testing to their to-do list. And by offering home-based testing, JScreen hopes to eliminate any obstacles to this process.

Based at Emory Universitys Department of Human Genetics, JScreen (jscreen.org) provides a Web-based portal for individuals to request a genetic-screening kit. Participants provide a saliva sample most genetic tests involve a blood draw and mail it back for analysis. Before receiving the kit, participants must view an educational video and enter health information that is reviewed by an Emory genetic counselor.

We all carry [recessive genes for] various genetic diseases. We just dont know what they are, said Karen Grinzaid, a genetic counselor and instructor at Emory University School of Medicine and the senior director of outreach initiatives for JScreen.

The problem occurs when both parents are carriers of the same disease. In that case, each of their offspring has a 25 percent chance of manifesting the condition.

According to Emorys Department of Human Genetics, about one in five Ashkenazi Jews in the U.S. carries a genetic disease. However, most dont have a family history of the disease and are unaware of their status of carriers. In fact, 80 percent of babies with genetic diseases are born to parents with no known family history of that disease.

The only way to know if you are a carrier for a Jewish genetic disease is to have an affected child or be screened, Grinzaid said. For the vast majority of couples, genetic screening gives couples reassurance that theyre not at risk.

Saliva samples returned to Emorys lab are tested for 40 diseases prevalent in the Jewish community. Nineteen of them are more common in Ashkenazi populations, and 21 of them are common in Jews of Sephardic or Mizrahi (Middle Eastern) origins. Testing for an additional 47 diseases found in the general population is available at no extra cost. Many of the diseases included in the tests are fatal, and all impact the individuals quality of life.

Results take less than four weeks. If they are negative, individuals are notified via email. Those who are identified as carriers speak via phone or videoconference to an Emory University genetic counselor about their results and options. They might also be referred to a local genetic counselor for more extensive counseling. Grinzaid said that about 2 percent of couples will be found to be carriers of the same disease.

If both members of a couple carry the same genetic disease, they have several options. One is to undergo in-vitro fertilization using pre-implantation genetic diagnosis. This technology allows embryos to be tested for the affected gene before being implanted. Other options include using a donor egg or sperm, or pursuing adoption.

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New option for Jewish genetic testing