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The Importance of Genetic Screening

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By Richard V. Grazi, MD, FACOG, FACS –

The contribution that Dor Yesharim has made to the genetic health of our local Ashkenazi communities is well known. This organization was founded in 1983 by Rabbi Josef Ekstein after losing four of his own children to Tay Sachs disease, a uniformly fatal illness that affects infants soon after birth. Thanks to Dor Yesharim, today it is extremely rare to encounter cases of Tay Sachs as well as several other so-called Ashkenazi genetic diseases in couples who have been through the yeshiva system because all high school students are tested and their test results vetted prior to arrangement of their shidduchim.

It is well known, however, that the list of genetic illnesses for which Dor Yesharim tests cannot be comprehensive. This is because medical researchers are continually adding to the list of genetic illnesses known to affect our community. For doctors who care for Ashkenazi couples planning pregnancy, the American College of Obstetrics and Gynecology currently recommends screening for twelve specific conditions and the American College of Medical Genetics recommends screening for an additional five. The expense that Dor Yesharim would incur to screen for all of these would be exhaustive and is not realistic. Therefore, one must not expect that a “green light” given by the organization definitively rules out the possibility of a couple having a child with a life-threatening genetic disease.

Today, genetic screening to detect genetic carrier status has become a mainstay of current clinical practice and can easily be done by a variety of detection techniques. The aim of such screening programs is to eliminate the transmission of severely debilitating diseases. In the past, many poskim resisted such testing as it was thought that doctors would use the results to screen already-pregnant women with the intent to offer termination of the pregnancy in the event that the fetus was found to carry a genetic disease. That is certainly not the case. Rather, today’s reproductive specialists can help couples found to be at risk to safely initiate a pregnancy using preimplantation genetic diagnosis (PGD), virtually erasing the risk and worry that a naturally occurring pregnancy would impose. Of note, insurance companies typically cover the costs of genetic assessment and, if the couple is found to be at risk, the PGD treatment itself, for they have a financial interest in preventing the birth of sick children.

Rav Yitzchak Zilberstein shlit”a briefly addressed PGD about a quarter century ago in a teshuva to me that was subsequently published in Assia (1995, vol. 8, pp. 47-48). In his response, he sensitively wrote that “one cannot close the door in the face of despondent people who suffer mental anguish in fear of giving birth to sick children, pressure which can drive the mother mad. Therefore, in the case of a serious genetic disease which affects the couple, it is difficult to forbid the suggestion [for genetic screening through PGD].” A more full-throttled endorsement of PGD was recently offered by Rav Asher Weiss shlit”a in Minhat Asher (2013, vol. 1, responsum 89), He was responding to a question from a couple with a child suffering from a serious genetic disorder. There is a fifty-percent chance that future children will suffer from the disorder, and they ask if they are still obligated in the mitzvah of p’ru u’rvu – that is, are they are still obligated to bring more children into the world. He notes in response that it is well established in Halakhah that one is not required to fulfill an affirmative mitzvah if there is excessive financial burden or if it would involve severe physical distress. Drawing his conclusions from unalterable scientific data, he states: “Kal vachomer one is exempt when it would cause a lifetime of suffering for a child not yet born, where there is serious fear that they will be born with physical or mental disabilities and will face a lifetime of suffering.” Nevertheless, he adds, the couple should be strongly encouraged to pursue PGD, despite the fact that in previous generations halakhists were uncomfortable with the procedure, as this is now acceptable.

The Borei Olam has revealed to doctors and scientists ways for us to minimize the risks of transmitting genetic diseases to our children, with all of the attendant suffering not only for the affected children but also for their parents and siblings. Proper genetic screening is an important first step and should be considered by all couples prior to pregnancy. Optimally, all individuals who are found to be at risk, i.e. when both partners carry the same recessive genetic trait, should be given genetic counseling and then discuss with their posek the use of PGD as the preferred, primary intervention. In this way, b’ezrat Hashem, yirbu semahot b’Yisrael.

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Richard V. Grazi, M.D. is the Director of the Division of Reproductive Endocrinology at Maimonides Medical Center and the founder of GENESIS Fertility & Reproductive Medicine.

If you would like to learn more about GENESIS Fertility or are ready to schedule an appointment please speak with one of our New Patient Specialists at 718-283-8600