
by Miriam Driker
A new baby, Mazal Tov! Mazal Tov to the parents, grandparents and the whole family. Even cold, hardened executives are suddenly reduced to coos and gurgles. Friends and family come to welcome the new baby with the traditional blessing, "May you raise the child to Torah, to chuppah (marriage) and good deeds!"
All this sounds great, so I regret to dampen your spirits by informing you that the ending here is not so happy. Only a few months or years later, this great joy can change into great pain and devastation, if G-d forbid, a genetic disease is discovered.
The doubled tragedy is that modern medical technology now enables us to predict and prevent many of these horrific diseases. Experts in genetic testing and Jewish law are working to develop programs to prevent Jewish genetic disorders, in a proper, Torah approved manner.
Jewish genetic disorders are certain conditions unusually common among Jews of East European (Ashkenazi) descent. These diseases can also affect Sephardi Jews and non-Jews, but they afflict Ashkenazi Jews 20 to 100 times more frequently.
Scientists believe that two factors may have caused certain disorders to be more common among Ashkenzi Jews: the "founder effect" and "genetic drift."
The "founder effect" refers to the chance presence of these genes among Jews who emigrated to eastern Europe in the beginning the Diaspora (70 C. E). Before that, it's assumed that these disorders were no more common among Jews than other people. "Genetic drift" refers to the higher frequency of these genes affecting the group over time. Since Jews did not marry outside the faith, the effect of the genes was not diluted by genes outside the Ashkenazi community.
Rabbi Yossi Paltiel and his wife are Tay Sachs carriers, meaning that their offspring has a 25% chance of having the presently incurable, fatal disease. After having several healthy children, they discovered that they were a carrier couple when their beloved son Mendel died after four years marked by hospitalization and painful suffering.
Paltiel, a dynamic Talmud lecturer, exhorts his students to take a simple blood test before marriageable age. Administered by the Dor Yesharim (Upright Generation) organization, the test results are kept on file, and when considering meeting a potential spouse, a phone call will reveal if the prospective partner is a carrier couple, for if both have a gene defect it may result in a sick child.
The Dor Yesharim organization protects the privacy of all participants. It never reveals the status of an individual person, only if the couple is not compatible, i.e. both are carriers, in which case the union is not advised.
Rabbi Paltiel writes speaks and counsels about this issue. He has tried to convince engaged carrier couples to break up. Sometimes he's successful, but not always.
"I once tried to convince a carrier couple not to get married, but they were convinced that their love and compatibility was strong enough to take the risk. They still have a strong marriage, and several healthy children, but they have buried two children. The husband is the saddest man I know. He now says that the greatest love for his (then) fiancé would have been that they part. He now spends his spare time raising money for Dor Yesharim."
Founded in the 1970s, Dor Yesharim was developed under the guidance of medical and Jewish law experts, and is strongly promoted in orthodox communities. Once a couple is married, or a child is conceived, the halachic issues are much more complex, so this organization focuses mainly on preventing such mariages.
In addition to Dor Yesharim, other institutions are also working to develop the educational tools to make preventive genetic testing easily accessible and a normal part of health care for all Jews.
The Jewish Genetics Project, funded by a New York based philanthropic trust, will offer individuals a full battery of genetic tests from a single medical practitioner or healthcare facility. Currently, tests for 8 of the 10 genetic diseases the trust hopes to prevent are administered in different medical facilities as separate procedures.
The project will also support research on gene mutations for which screening tests have not yet been developed. "This is an important moment in Jewish history," said David Altshuler, president of the Trust for Jewish Philanthropy. "Scientific understanding of the human genome now allows for testing that wasn't available a decade ago." Specialists in medicine, genetics and Jewish law, all working pro bono, are evaluating the feasibility of the Jewish Genetics Project.
Currently in the planning phase, the trust will evaluate the cost of the project, the potential for advance research, and the ethical and halachic implications.
While G-d is the true Healer, Judaism teaches us that the doctor is His emissary. We are enjoined to utilize all medical technology and knowledge within parameters of Jewish law to enhance and protect the precious gift of life. The trust is working hard to develop the medical infrastructure, and to effectively reach the public. A pilot program would be established based on the outcome of a market survey designed to understand what motivates people to undergo genetic tests, where they want to have them and how much they are willing to pay.
An estimated one in seven Jews is a carrier of a genetic disorder prevalent among Ashkenazi, Sephardic and Oriental Jewish populations. In addition to Tay-Sachs, Canavan and Gaucher disease, the trust hopes to test for cystic fibrosis, Fanconi anemia, Niemann-Pick disease, familial dysautonomia, mucolipidosis IV, glycogen storage disease and familial hyperinsulinism. The trust is also interested in expanding the test "panel" to include dominant diseases, such as Huntington disease, for which only one copy of a gene can cause the disease to be expressed, and compatibility testing for bone marrow registries.
Specialists say the Jewish Genetic Project could obliterate Jewish genetic diseases in 10 years, but only if it is carried out flawlessly. "It won't be done unless we feel it can be done perfectly," explained Susan Gross, co-director of the Division of Reproductive Genetics in the Department of Obstetrics & Gynecology and Women's Health at Montefiore Medical Center, who coordinates the planning of the project.
Mr. Altshuler shares Dr. Gross' caution. "I take it seriously because I too, one day, may need medicine," he said. "You don't need to know the tragedy of one of these diseases. You need only to read about the issues to understand why we must be certain that we're doing it the right way."
Actually, "Jewish" genetic diseases are also found among non-Jews. Tay-Sachs and cystic fibrosis, for example, are equally prevalent outside the Jewish community. French-Canadians have an independent version of Tay-Sachs, once erroneously believed to be transmitted only by Jews. Indeed, the strong education and testing initiative within the Jewish community has actually made Tay-Sachs more common in non-Jews. Dr. Gross explained that it is merely easier to identify carrier status among Jews because looking at a few gene mutations can identify 97 percent of all carriers.
Dedicated organizations and individuals are working earnestly to see the day when preventive genetic testing will be as much a part of Jewish life as matza ball soup and playing dreidel.
Resources: Jewish Genetic Disorder Program DOR YESHARIM 718-384-6060 Division of Genetics Children's Memorial Hospital 2300 Children's Plaza Box 59 Chicago, Il info@jewishgenetics.org BLOOM SYNDROME The New York Blood Center Laboratory of Human Genetics 310 East 67th Street New York, NY 10021 (212) 570-3075 THE CANAVAN FOUNDATION 600 West 111th Street New York, NY 10025 (212) 316-6488 CYSTIC FIBROSIS FOUNDATION 6931 Arlington Road Bethesda, MD 20814 1-800-344-4823 www.cff.org DYSTONIA MEDICAL RESEARCH FOUNDATION 1 E. Wacker Drive, #2430 Chicago, IL 60601-1905 (312) 755-0198 fax: (312) 803-0138 www.dystonia-foundation.org FAMILIAL DYSAUTONOMIA Dysautonomia Foundation, Inc. 633 Third Avenue, 12th Floor New York, NY 10017 (212) 949-6644 fax: (212) 682-7625 www.familialdysautonomia.org NATIONAL GAUCHER FOUNDATION 11140 Rockville Pike Rockville, MD 20852 (800) 428-2437 fax: (301) 816-1516 www.gaucherdisease.org MUCOLIPIDOSIS IV NATIONAL MPS SOCIETY, INC. 17 Kraemer Street Hicksville, New York 11801 (516) 931-6338 fax: (516) 822-2041 www.mpssociety.org NIEMANN-PICK DISEASE NATIONAL Niemann-Pick Disease Foundation, Inc. 411 North Diane Court Chandler, AZ 85226 (602) 940-8164 fax: (602) 940-5785 www.nnpdf.org
www.canavanfoundation.org