It is always preferable for couples to learn about their chances of having a child with inherited diseases prior to pregnancy, and it is best to perform carrier testing before an engagement. Discovering the risk during engagement, marriage, or pregnancy can cause significant distress to a couple, so it is beneficial to find out this information as early in the process as possible.
There are several options for testing.
Genetic testing in the United States may be covered by health insurance and can be ordered by a medical provider. Additionally, organizations that provide genetic screening and counseling for Jewish genetic diseases in the United States include:
- JScreen (http://jscreen.org)
- The Victor Center for Jewish Genetic Diseases (http://www.victorcenter.org/)
- Sarnoff Center for Jewish Genetics (Illinois) (https://www.juf.org/cjg/Get-Screened.aspx)
- The Jewish Genetic Diseases Center of Greater Phoenix (http://jewishgeneticsphx.org/)
In Israel, genetic tests for many conditions (e.g., Tay Sachs) are covered directly by the government and others by the health funds (kupot cholim) either directly or through their supplementary insurance. More information is available here. Most of these tests are listed as prenatal tests, which are done during pregnancy. However, upon request they can be done before marriage as well. One generally starts by meeting with a nurse or completing a form to determine which tests are recommended based on family history and ethnicity. The next step is a blood test. It is important to remain informed about what tests are being ordered and what they will cost.
In other countries, one can inquire through the health care system or ask one’s doctor about options for testing.
An alternative system of premarital genetic testing for a number of conditions has been established within the Jewish community. This project is called Dor Yesharim, The Committee for Prevention of Jewish Genetic Diseases (http://doryeshorim.org/ worldwide, or http://www.doryes.com/ in Israel). Dor Yeshorim currently offers several different panels of tests from which to choose depending on ethnic origin.
With Dor Yesharim, individuals are tested before beginning the search for a marriage partner, but are not told the results of the test. A couple considering marriage notifies Dor Yesharim and is informed whether or not there is a problem. The couple is not told what disease they carry, just that the match is likely to lead to a child affected by one of these conditions.
As this system addresses halachic concerns regarding stigmatization of known carriers, it has the approval of many leading halachic authorities. It is also subsidized. However, Dor Yesharim will only test people prior to an official engagement, and does not give specific test results. Therefore, some couples will choose to do “open testing” through the healthcare system or privately, as described above.
If a couple has not been tested prior to marriage, they should consult with a halachic authority about doing tests at a later point. There are grounds to permit testing at any stage if it could lead to an intervention that would allow the birth of unaffected children or be beneficial to the health of a fetus.