Community Magazine June 2009

56 COMMUNITY MAGAZINE only by a number – then informs the couple whether or not they are compatible. Neither partner learns whether he or she is person- ally a carrier unless it is determined that both are carriers, and the marriage thus poses a risk for any of nine prevalent Ashkenazic disorders. In the event that both are carriers, the couple is advised to discontinue their courtship or marriage plans.The Dor Yeshorim system thus eliminates the possibility of mismatched genes, with- out the unfortunate effect of stigmatization. No man or woman is determined to be a carrier unless this information becomes vital – namely, if he or she plans to marry another carrier. This system follows the ruling of Rabbi Moshe Feinstein z.s.l. (1895-1986), who is generally regarded as the most authoritative halachic authority among American Ashekenazim in the 20th century. In his work Iggerot Moshe (Even Ha’ezer 4:10), Rabbi Feinstein wrote: It is advisable for one preparing to be married, to have himself tested. It is also proper to publicize the fact, via newspapers and other media, that such a test is available. It is clear and certain that absolute secrecy must be maintained to prevent anyone from learning the result of such a test per- formed on another. The physician must not reveal these to anyone… 1 The Sephardic Versions Among the Sephardic population, there are five diseases that have been identified to occur with greater frequency (see sidebar). In spite of major advances in our understanding of genetics, these disorders continue to receive significantly less attention than those that affect Ashkenazic populations, and certainly no large-scale testing program has been seriously contemplated among Sephardim. A brief look at the available data may reveal at least part of the reason why this is the case. By and large, the Ashkenazic disor- ders surface in greater frequency, and result in more devastating effects, than the Sephardic diseases. Tay-Sachs, the most dreaded Ashkenazic disorder, debilitates a child during infancy and ends his life by the age of six, with no available treatment. Cystic Fibrosis, another disorder that occurs with greater frequency among Ashkenazim, causes serious lung damage and has a median survival of 37. The only Sephardic disorder that rivals this kind of devastation is MJD, which occurs much more rarely. Consider as well that GSD III has a carrier frequency of 1 in 35 among North African Jews, and Beta-thalassemia has a similar frequency of 1 in 30, mainly among those of Greek and Italian ancestry. This is in contrast to Cystic Fibrosis’s rate of 1 in 25, and Tay-Sachs’ 1 in 26 (though some estimate Tay-Sachs’ carrier rate at 1 in 30). FMF has a much higher frequency rate – 1 in 5 among Jews from North Africa and Iraq – but, since severity varies significantly from one patient to the next, and some of its symptoms are treatable with anti-inflammatory drugs, the disease is not considered near as serious as the 12 Ashkenazic diseases tested for by Dor Yesharim. And while G6PD can have a carrier rate as high as 1 in 4 in some populations, until carrier testing becomes available, screening is impossible. To Screen, or Not to Screen? Shoshana Rosen, Outreach Director of the Victor Center for Jewish Genetic Diseases at the Albert Einstein Medical Center in Philadelphia, foresees the emergence of large-scale screening programs for Sephardim. As knowledge and awareness of these disorders increase, and the technology continued to develop, insur- ance companies will be more likely to give coverage for ancestry- based genetic screening. Even at present, the Victor Center does offer screening for those of Sephardic descent. The cost will vary depending on which tests are required, which is a function of the couple’s ancestry. Mrs. Rosen added that in cases of a family history of a certain disease, the Center will work together with the couple in question to secure coverage from the insurance company. Additionally, the International Joseph Diseases Foundation (www.ijdf.net) works to support research relevant specifically to MJD, and offers services to MJD patients. With all the remarkable achievements of genetic research, there is still much that remains to be learned. How research develops in the coming years will likely determine the advisability and viability of large-scale screening among Sephardim. While some might argue that massive screening could cause unnecessary anxiety for singles and their parents, others would contend that all options must be pursued in our communal efforts to eliminate these disorders. We can likely expect to hear different opinions voiced by experts and community leaders, giving rise to a healthy debate as to how to best ensure a healthy Sephardic population. Endnote 1 Translation from Rosner, Pioneers in Jewish Medical Ethics. More information and useful resources include: Victor Center www.einstein.edu/yourhealth/genetic/jewishgenetic/ 1-215-456-8722. Chicago Center for Jewish Genetic Disorders www.jewishgeneticscenter.org 1-312-357-4718 Mount Sinai Center for Jewish Genetic Disorders 1-212-659-6774 Jewish Genetic Disease Consortium www.jewishgeneticdiseases.org 1-866-370-4363 Rabbi Moshe Feinstein z.s.l.