Erasing Tay-Sachs Disease

By Nomi Stone

If human beings have the capacity to efface particular debilitating and tragic diseases from the gene pool, who would possibly want to tug the reins on such a project? Tay-Sachs disease is caused by the hereditary lack of a crucial enzyme, Hexosaminidase-A, which normally breaks down fatty waste products, found in the brain. In the absence of Hex-A, a substance accumulates which is usually broken down by Hex-A and causes irreparable damage to the nervous system. A newborn with Tay-Sachs disease first appears startlingly normal. The infant becomes hypersensitive to sound within the first few months, ironic, as deafness is one of the last symptoms. Motor development is sluggish from the start, and head control, poor. Response to the environment becomes minimal: the child is eventually deaf, blind, mentally retarded and virtually inert. Death results by age five. Watching one’s child deteriorate progressively, lose all function, and then succumb within five years is nothing short of devastating. Perhaps, the disease can be eradicated entirely from populations where it is concentrated, and if this were the case, who could reasonably express qualms?

Tay-Sachs is an autosomal recessive disorder: if both parents are carriers of the defective gene, there is a twenty-five percent chance that the child will have the disease, and a fifty percent chance that the child will be a carrier of the gene. The confluence of these factors is quite rare, however, as the carrier rate in the population at large is 1/250. However, the disease is comparatively rampant in the Ashkenazi Jewish population; 1/27 Jews in the United States carries the gene. Tay-Sachs’ frequency in the Jewish population is due to the "founder effect" in which a random preponderance of genetic disorders and mutations within a tightly knit minority group are perpetuated over generations. It is perplexing that the gene does not naturally, with time and evolutionary grace, become diminished in frequency. After all, a child with the disease cannot transmit its genes, due to death before childbearing age. The carrier rate however, has remained fairly constant. Perhaps this is because parents who suffer the death of a child due to Tay-Sachs will probably have more children than the norm to compensate, fifty percent of which will be carriers of the gene.

I am an Ashkenazi Jew, and I know that it is my obligation to be acutely aware of my heightened risk factor for the disease. I know that if two confirmed carriers want to have a child together, a variety of delicate ethical considerations will be engendered. The Jewish community spans the spectrum, from the most liberal Reform and Reconstructionist sects, receptive to more diverse approaches of handling the issue to the ultra conservative Orthodox and Chasidic sects. Interpretations on screening and counseling for the disease, and particularly abortion, are inevitably incompatible. One overriding link is that nearly all Jews think that rabbis should provide resource information and support, and help guide a couple who is at risk for having a Tay-Sachs baby.

One possibility for at-risk couples is an amniocentesis several months into the pregnancy and then an abortion if the fetus has Tay-Sachs disease. The emotionally draining months in anticipation of the results and the sense of grief, disappointment and inadequacy which accompany a failure make this option less than desirable. This approach would be unacceptable for an Orthodox Jew, as the community generally condemns abortions. Many Orthodox rabbis are hesitant about recommending the amniocentesis procedure due to the fear that it would necessarily lead to an abortion if the fetus were afflicted. Some Orthodox rabbis are even wary about the ramifications of any outside genetic counseling at all.

Pre-implantation genetic diagnosis, a promising new technique is another option. The procedure entails developing a number of embryos outside of the mother’s body, screening them for the disease, and then implanting those which are not afflicted in the uterus. The process is quite painstaking and time-consuming. A regiment of fertility drugs to stimulate the mother’s egg production in advance. Eggs are removed and fertilized with the partner’s sperm, and each resulting embryo is screened for the disease. The process can be unreliable, however: sometimes the mother does not produce adequate numbers of eggs. Sometimes the embryos do not multiply into enough cells to be safely tested. Even in multiple embryos are implanted in the mother’s womb, this does not ensure pregnancy. Furthermore, the technique is quite costly, right now, approximately $10,000, not an economic possibility for many. Discarding afflicted zygotes "is not considered as abortion since the status of a fetus or a potential life in Judaism applies only to a fetus implanted and growing in a mother’s womb." However, "the Jewish legal question of using artificial means of conception to screen potential fetuses for genetic disease has yet to be ruled on decisively by modern rabbinic authorities."

Artificial insemination is another alternative. In this scenario, the father would have to be willing to forego making a genetic imprint on his child. This choice seems incongruous with the Jewish identity, and the very intimate link felt between the blood line/gene map and one’s ancestors and descendants.

Rabbi Joseph Eckstein pioneered an entirely new approach to Tay-Sachs disease in 1985, in light of the fact that he found all the available options either unappealing or irreconcilable with halachic (Jewish) law. His solution: to eliminate the gene from the Jewish population entirely. Eckstein is the founder of an international genetic testing program called Dor Yeshorim, the "generation of the righteous." In the program, Orthodox Jewish high school students are given blood tests to determine if they have the Tay-Sachs gene. Instead of receiving direct results as to their carrier status, each person is given a six-digit identification number. Couples can call a hotline, if both are carriers, they will be deemed "incompatible." Individuals are not told they are carriers directly to avoid any possibility of stigmatization or discrimination. If the information were released, carriers could potentially become unmarriageable within the community. During 1993, 8000 couples were tested, and eighty-seven couples who were previously considering marriage decided against it as they were at risk for having a child with the disease. The program then, aims to eradicate the disease through the venue of choice of mate.

Jewish writings contain references to genetics and eugenics as far back as the Bible and Talmud. In Jewish law, it is prohibited to "marry a woman from a family of epileptics or lepers lest the illness be transmitted to future generations." Avoidance of genetic disease by choice of mate has been accepted since the biblical era. Do the Jewish ancient writings thus indirectly sanction the approach of Dor Yeshorim?

The method is certainly controversial, and its most adamant opponents have dubbed it "coercive eugenics," and believe that it is on the path to the "narrowing of normality." The term "eugenics" itself seems perilously connotative of Nazism, breeding a race with the most optimal traits, unhampered by disease. But in reality, "more and more people are making decisions which are de facto eugenics." If a couple aborts a diseased fetus and tries again, when a sperm bank screens donors for the traits they carry, whenever knowledge of one’s genetic makeup influences a reproductive decision, eugenics is manifesting itself. If eugenics is the "attempt to improve the heritage of those yet unborn," then the definition umbrellas each of these examples. Is Dor Yeshorim then, only a more overt application of the same principles?

I think that the methods of Dor Yeshorim could be suitable within a confined framework and for a certain population of people. However, at the same time, I believe that the program contains fundamental flaws and limitations, and should be closely monitored. I think that the program accommodates itself well to the Chasidic community. Chasidic Jews arrange marriages; thus it is logical and even imperative to test both partners beforehand. If both individuals are carriers of the gene, the arrangement can be broken with no damage done to either. However, in less religious communities where marriages are not arranged, Dor Yeshorim seems both a bit callous and unrealistic. What point is appropriate to determine if a couple is "compatible?" Before they have interacted in a social situation? As soon as they are seriously dating? When they are contemplating marriage? Human beings form emotional attachments, and choosing a mate is a complex and individualized process. Neil and Ann Wolff, with first Tay-Sachs free baby born using pre-implantation genetic diagnosis, illuminate the struggle, "She refused to get tested until after we got engaged in early 1994. She didn’t want the answer to the question to affect our decision about whether or not we loved each other and wanted to spend our life together."

The manner in which Dor Yeshorim provides results is equally controversial. I think that carrier status should be disclosed confidentially. The roundabout way of giving results is intended to be a kind of emotional cushion for the individuals. However, at the same time, not knowing conclusively about carrier status is disconcerting. A negative result could eliminate all concerns before even beginning to look for a life partner. A positive result equips an individual to make critical decisions about child bearing in the future.

Dor Yeshorim is essentially a mass genetic screening program, and thus inherently straddles murky turf. Privacy concerns are critical. Genetic screening is pregnant with possible repercussions like discrimination by insurance companies and employers. Furthermore, Dor Yeshorim has expanded its testing program to include screening for several non-lethal diseases. In this age of genetic revolution, this is vaguely alarming. Which traits or conditions can safely be espoused as undesirable? Dor Yeshorim is a program of eugenics, whatever it’s overriding aims and moral purposes may be. There is an unspoken irony: not simply that a conservative group clings to such an inherently bold and controversial genetic project, but in the inevitable linkage of eugenics to the persecutors of those who now embrace Dor Yeshorim.

References

1. Anderson, Walter Truett. "21st Century Trends: Why Eugenics is Here to Stay"

2. Katz, Leslie. "Peninsula baby defies the odds: Scientific breakthrough on Tay-Sachs"

3. Klein, Aaron. "Genetic Screening Causes Controversy."

4. Lombard, Lisa. "Tay-Sachs Disease: Testing a Population at Risk"

5. Rosner, Fred. "Judaism, Genetic Screening and Genetic Therapy"

6. www.rh.uio.no.sss.English/Disorder/ED_taysa.htm

7. www.accessexcellence.org/AE/AEPC/BE202/ethics/quests.html

8. www.tay-sachs.org/whatista.htm

9. Stone, Rabbi Warren

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