An Ounce of Prevention

A new baby. Mazal Tov! Mazal Tov!

The whole family is ecstatic. Even hardened executives are suddenly reduced to coos and gurgles. Friends and family come to welcome the new baby and offer the parents the traditional blessing, "May you raise the child to Torah, to chuppah (marriage) and good deeds!"

Tragically, sometimes this great joy can be followed by overwhelming pain and devastation if, G‑d forbid, a genetic disease is discovered.

Two factors may have caused certain disorders to be more common among Ashkenzi JewsThe good news is that modern medical technology now enables us to predict and prevent many of these horrific diseases. Genetic experts have developed programs to prevent Jewish genetic disorders from occurring, and are working toward their complete eradication.

Jewish genetic disorders are certain genetic mutations unusually common among Jews of Eastern 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 similarly prevalent in Jews and other populations. "Genetic drift" refers to the higher frequency of these genes affecting the group over time. Since Jews did not marry outside the faith, these faulty genes were not diluted by genes outside the Ashkenazi community.

Rabbi Yossi Paltiel and his wife are Tay-Sachs carriers, meaning that their offspring have 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 showed signs of Tay-Sachs in his infancy. He 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 (meaning Upright Generation) organization, the test results are kept on file. When considering meeting a potential spouse, a phone call to the organization reveals if the couple would be at risk of having a child with one of the genetic diseases, i.e. if both partners are carriers. 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, in which case pursuing the match 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.

"They still have a strong marriage, and several healthy children, but they have buried two children.""I once tried to convince a carrier couple not to get married, but they were convinced that their love and compatibility were strong enough to handle 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. His tragic experience has made him realize that the greatest and deepest gift to his wife would have been to break the engagement once they learned they were indeed a carrier couple. 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. The Orthodox community is united in promoting use of the organization's crucial tools among young men and women approaching marriageable age. Yeshiva, high school and seminary students are often offered the testing through their schools.

In addition to Dor Yesharim, other institutions are 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, hopes to offer individuals a full battery of genetic tests from a single medical practitioner or healthcare facility. Currently, tests for eight of the ten genetic diseases the trust hopes to prevent are administered in different medical facilities as separate procedures, making testing complex and impractical.

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 a medical infrastructure, and methods 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 testing, where they want to have them and how much they are willing to pay.

Specialists say the Jewish Genetic Project could obliterate Jewish genetic diseases in 10 yearsAn 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 disease 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's disease, for which only one copy of a gene can cause the disease to be expressed. They also hope to develop 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 is coordinating project planning.

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."

"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 been effective enough that the Jewish population no longer has the highest incidence of Tay-Sachs. 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 are working earnestly to see the day when preventive genetic testing will be a normative procedure for Jews the world over.