Jewish genetic diseases are incurable, so the best defense against them is genetic screening to identify individuals who are carriers for particular diseases. Couples in which both partners are carriers for a particular disease have a number of options, including adoption, not having children, testing the fetus in utero, or in-vitro fertilization, in which embryos are tested for the disease and only implanted if they are healthy.
Who Should Be Tested and When
Most experts recommend that couples in which at least one partner has a Jewish grandparent undergo testing. The earlier testing is done, the more options are available. In some segments of the Orthodox community where marriage and dating are generally arranged by matchmakers, couples are screened for genetic incompatibilities before they even are introduced. In the broader Jewish community where such measures may be impractical, experts recommend individual testing prior to marriage, and absolutely prior to conception.
For couples screening, typically the woman is tested first and then her partner is tested for any diseases for which she is found to be a carrier. If only one partner is Jewish, it is generally that partner who is tested first. If the woman is already pregnant, both partners are tested simultaneously. If both are found to be carriers, then the fetus is tested for the disease.
How to Get Tested
People are generally screened with one procedure that simultaneously tests for multiple diseases. Various recommended testing panels include the most common Jewish genetic diseases, though some procedures screen for as many as 100 different conditions. Carrier testing is performed by DNA analysis, either from blood or saliva. Some diseases, like Tay-Sachs, may also require enzyme analysis. Screening can often be performed at an OB/GYN office or at a medical genetics facility. JScreen, a national nonprofit, offers home screening kits by mail at a cost of $149 for those who have insurance. For those without, the price runs to $349, and the organization does offer financial assistance for those who need it. Genetic counseling is provided by phone, so that couples understand their results and the options available to them.
Under the 2008 Genetic Information Non-discrimination Act, insurers in the United States may not deny coverage to healthy individuals with a genetic predisposition to develop a particular disease in the future. Employers are also barred from using genetic information to make decisions about hiring, firing and promotions.
The Sarnoff Center for Jewish Genetics, the Victor Center for the Prevention of Jewish Genetic Diseases, and the Jewish Genetic Disease Consortium all maintain directories of resources for those seeking carrier screening. Further information on screening services is available on our Resources page.