Jewish Press Health and Living: Jewish Genes By Dr. Daniel Eisenberg

July 2008

It is estimated that one in five Jews of Ashkenazi descent carries a gene for one of the serious, and often fatal, recessively inherited “Ashkenazi” Jewish genetic diseases such as Tay-Sachs, Familial Dysautonomia, or Cystic Fibrosis. Those who merely carry a gene for a recessive disease will not get sick from it. Moreover, barring mutation, only the offspring of parents who are both carriers can become sick. While we cannot remove the lethal genes from the “gene pool,” we can easily prevent the birth of babies with recessively inherited diseases by preventing carriers from marrying each other.

The Jewish community has had a lot of experience over the last three decades dealing with screening for these “Jewish” genetic diseases. Because one is only testing for a gene, but not for a disease itself, there is a definite psychological benefit. The person being screened can retain his self-image of normal health even if it is discovered that he is a carrier – only potential offspring are affected. Additionally, knowledge of the carrier state empowers one to act to prevent the birth of children with a tragic disease. All they need to do is avoid marrying another carrier.

As a proof of the power of genetic screening, Jews have used the knowledge gained from testing to significantly decrease the incidence of Tay-Sachs births, with segments of the Orthodox community virtually eradicating Tay-Sachs births. Widespread testing has been strongly encouraged by all segments of the Jewish community. Nevertheless, many questions arise even when testing for a recessively transmitted disease.

While the Torah obligates us to guard our health, it does not necessarily follow that testing ourselves for recessive genetic traits that do not directly affect our health is included in the mitzvah. Nevertheless, Rav Moshe Feinstein favored Tay-Sachs testing and considered it a moral obligation.

Yet, Rav Feinstein feared that testing teenagers could hurt the self-image of those testing positive, leading to discrimination against them when seeking a spouse. He recognized that despite assurances from the medical community that if only one partner in a marriage carries the Tay-Sachs trait, there are no health issues for the individual or his offspring, many people would nonetheless shun marrying into a family with a “genetic defect.” Therefore, Rav Feinstein insisted on safeguards to protect confidentiality, advising the testing of a youngster on an individual basis only when he/she is prepared to start dating.

Rav Feinstein’s approach parallels that of Dor Yesharim, an organization that functions in the traditional Jewish community where formal introductions precede first dates. Since the screening process does not impact the health of the screened individual, Dor Yesharim does not report the results of screening even to the tested individual, but only reports whether both members of the proposed shidduch are carriers. Marriage between carriers is prevented before there is an emotional bond, yet anonymity prevents one’s carrier status from causing psychological pain before marriage. Dor Yesharim has prevented many genetically incompatible matches before the couples ever met.

On the other hand, in an article in the journal Tradition, Rav J. David Bleich, a rosh yeshiva at Yeshiva University and law professor at Cardozo Law School, feels that testing should be done on a mass scale when children are young. He argues that appropriate education of the Jewish community could lead to the removal of the stigma attached to having a “bad gene.” While he appreciates the goals of Dor Yesharim, he objects that “ . . .in refusing to divulge the results of genetic tests to either the young men and women affected or to their parents, a negative stereotype is dramatically reinforced.” While the goal of removing stigma is admirable, many healthcare professionals feel that screening young children is unwise.

Obviously, testing for recessive traits before marriage allows the greatest latitude in decision making. Once married, however, the options for two Tay-Sachs carriers become severely limited. Because of the Torah command to “be fruitful and multiply,” deliberately sterile marriage is not permitted by Jewish law, and adoption, though meritorious, still does not fulfill the Biblical obligation of procreation.

Artificial insemination by a non-carrier donor raises issues of adultery, paternity, and inheritance, while it does not fulfill the mitzvah of procreation. From the woman’s side, egg donation and surrogacy raise similar questions, and also raises the problems of establishing maternity and concerns regarding the ethics of buying and selling eggs.

From a Jewish perspective, abortion is generally reserved only for cases involving danger to the mother. While this may sometimes includes the mother’s emotional health, such as severe post-partum depression and suicidal ideations, it usually does not include the health of the fetus. Rav Eliezer Yehuda Waldenberg offers a notable dissenting opinion.

The most promising option for carrier couples is pre-implantation diagnosis. The parents agree to conceive their offspring via in vitro fertilization and have the pre-embryo tested for genetic defects before implantation.

It should be clear that genetic screening is an investment in our children well worth making.

For a more extensive discussion of the halachic implications of genetic testing, check out Dr.Eisenberg’s website, www.jewishmedicalethics.org. For more information on testing for a variety of diseases affecting the Jewish community, contact the Victor Center for Jewish Genetic Diseases at www.einstein.edu/jewishgenetics.