Genetic Testing

Like people of every ethnic background, Jews are faced with specific genetic concerns.  1 in 3 individuals who is of Ashkenazi Jewish ancestry is a carrier for at least one Jewish genetic disease. Carriers of these types of diseases exhibit no symptoms of and usually do not have a family history of the disease.   “Carrier couples” are at risk to have an affected child, but they have options for building healthy families.

Genetic counseling with genetic screening for these diseases is recommended before contemplating a first or a subsequent pregnancy.  These options also are available for some diseases that occur more frequently in individuals of Sephardic/Mizrachi descent.

There are 2 methods of genetic testing used by the Jewish community:

1. ‘Open’ testing–all tested individuals receive a copy of the diseases tested and the test results. This testing can be done through one’s doctor’s office or through a genetics clinic, such as JScreen. JScreen is a convenient, at-home, saliva-based genetic carrier screening. To learn more about JScreen, click here.

2. ‘Closed’ testing through Dor Yeshorim— anonymous screening is performed before marriage only, and test results are not returned to the individual. After testing, prospective couples call the Dor Yeshorim hotline to confirm genetic compatibility. To find a participating testing site near you or to request a brochure, call Dor Yeshorim at 718-384-6060.

What is most important is not how one chooses to get screened, but that they take the initiative to do it. Don’t wait until it is too late.