As new couples prepare to start their families, they can access genetic information at their fingertips. The Android phone has an application called Genetic Disorders, documenting 118 genetic diseases. A new iPhone “app” called GeneScreen provides the carrier frequency of 28 specific genetic disorders. It also provides an ancestry map showing which genetic disorders are more commonly found in different regions of the world. These expanded resources provide more information and more choices for couples; but these choices also lead to more ethical quandaries.
“I was in a situation where my husband and I were carriers, and we had an affected child,” said Shari Ungerleider, of Wayne. After Shari and husband Jeffrey lost their son, Evan, age 4, to Tay-Sachs in 1998, she became an advocate for Jewish genetic testing, and now serves as co-president of the New York chapter of the National Tay-Sachs and Allied Diseases Association, and vice president of the national organization.
She also works for the Jewish Genetic Disease Consortium, which educates people on Jewish genetic disease screening. One of the programs they run, “Couples Aware,” is a training program for rabbis and cantors. Raising awareness of Jewish genetic testing is more important than ever as DNA technology now makes it possible to screen for up to 19 defects that occur in the Ashkenazi Jewish community, as well as hundreds of other genes found in the general population.
“There are more and more carrier tests for more and more disorders,” said Teaneck resident Peggy Cottrell, a genetic counselor at Holy Name Medical Center, also in Teaneck. “Genetic testing is getting cheaper and cheaper to do.” Genetics departments at New York University and Mount Sinai Medical Center in New York, as well as in other medical centers around the United States, have dramatically expanded the panel of Ashkenazi genetic tests they can perform. Thirty years ago, it was only possible to test and identify Tay-Sachs gene carriers. Ten years ago, there were four genetic tests commonly done; that was expanded to nine five years ago; today, it is possible to test up to 19 genetic disorders found in the Ashkenazi Jewish population.
“The tests are available not because Jews are more likely to get [the disorders], but because there’s a unique mutation in the Jewish population,” said Cottrell. “In all these cases, there’s a mutation that is common to Ashkenazi Jews, so it makes it easy to do the screening, and the test is relatively affordable.”
Most genes occur in pairs, so it is possible to be a carrier of one defective gene, yet not have the disease, since the second copy of that gene functions normally. However, if both parents have a defective copy of the same gene, there is a one-in-four chance that their child will inherit both defective copies and be afflicted with a genetic disorder or disease. Thus, many couples get tested to determine if they are both carriers of a specific genetic defect.
The first genetic tests developed using DNA technology detected gene variants that were found at a higher incidence in the Ashkenazi Jewish population compared to the general population. For instance, Gaucher disease Type I has a carrier frequency of one in 15 in the Ashkenazi Jewish population. The Tay-Sachs gene occurs in one in 25 Ashkenazi Jews, and one in 20 Ashkenazi Jews can carry the familial dysautonomia gene. Tests developed more recently, however, are for “genetic defects that are very obscure, so the carrier frequency can be low,” said Cottrell. Those diseases include Walker Warburg Syndrome, found in one out of 112 Ashkenazis, and Usher Syndrome Type I, occurring in one out of 165 Ashkenazi Jews. Those genetic diseases are not unique to Ashkenazis, and, in fact “can occur just as often in other populations,” added Cottrell.
Dr. Steven Schuss, a pediatrician in Teaneck, reported that he addresses the issue of testing with parents as well as teenage patients who are beginning to date. “I don’t see a downside in testing for recessive genes because the person who has the gene is unaffected and it’s important to know if you are a carrier.” Schuss tells his patients to “make sure this is something you’ve thought about.”
Schuss explained that some in the charedi [rigidly observant] community feel that being a genetic carrier carries a stigma. They developed a system through the Dor Yeshorim program that works well in a community where couples meet through a matchmaker. It involves genetic testing of young adults before they begin to date. Before being introduced, both individuals are tested genetically, and assigned numbers. “It has a lot to do with confidentiality….You just need to know if the boy and girl are compatible,” he said. “They just give you a yes or no. If there are two similar recessive genes in the two of them, they will call it a ‘no.'” On the other hand, he said, “someone may be positive for the CF [cystic fibrosis] gene and if the other partner is negative they will report it as a ‘go.'”
The key to the success of genetic testing programs is getting young people to be tested before they are in serious relationships, as that gives them the most options. “I can’t imagine anyone against genetic testing before pregnancy,” said Rabbi Joel Pitkowsky, rabbi of Teaneck’s Conservative Congregation Beth Sholom. “Every health insurance should cover it; it should be encouraged for all couples who are thinking of getting married.”
“In premarital counseling I discuss it,” he said. “When a couple discovers they are both carriers of a terrible disease, they have a difficult decision to make. It is a difficult discussion, but it is worth having the discussion before the woman gets pregnant.”
Dr. Efrat Meier-Ginsberg is an obstetrician/gynecologist who practices together with her father, Dr. Ronny Meier. Their Bergenfield office serves many Jewish patients in the Teaneck/Bergenfield area.
“I do recommend that testing be done,” said Meier-Ginsberg. “I give patients options. I tell them what tests are available.”
“I recommend it highly when they are dating and when they are engaged. Once they are pregnant, if they are a carrier, I recommend that the husband be tested, as well,” she said.
If both partners are found to carry the same recessive gene, there are tough choices to be made. “Even if they are dating, it doesn’t mean that they have to break up the relationship. They have the option of IVF and PGD,” said Meier-Ginsberg, referring to a couple’s option to conceive embryos by in vitro fertilization, i.e., by mixing the man’s sperm and the woman’s eggs in a petri dish. The embryos generated this way can be tested in the laboratory for genetic defects, and those found to be free of the defect can be chosen and implanted into the mother’s uterus. This permits the couple to have biological children free of that disease, without risking a pregnancy with an affected fetus and the difficult choices that might ensue.
When a couple discovers during pregnancy that both are carriers, they are faced with a daunting decision. “Regarding testing a pregnancy, different rabbis may give different advice,” said Schuss. “A couple should never make assumptions about the halachic p’sak [Jewish legal ruling]. Behind the scenes, abortions have been recommended. They may permit it, as mental health is health, too.”
“There’s always the question of the benefit, or the tyranny of knowledge,” said Rabbi Lawrence Zierler. “We are going to find people faced with very difficult decisions.”
Zierler, who is rabbi of the newly Orthodox Jewish Center of Teaneck, also serves on ethics committees at Holy Name Medical Center, and chairs the ethics committee for the Hospice of New Jersey. Regarding genetic testing, he said, “They are going to have an awful lot of information. When you have information, what are you going to do with it? You need social supports.”
Zierler recommended that the community develop religious panels to guide individuals in these decisions. “The weight of these kinds of decisions should not rest on one rabbi alone. There are a certain number of rabbis who have the ability to digest and interpret the parameters of the science and the statistical information that people have to understand,” he said. He suggested that the yoetzet halachah [female advisor on Jewish family purity issues, a position found in some modern Orthodox synagogues] could be involved on such a panel. “Their role should be expanded to that,” he said. “It’s a logical place to begin.”
“Like it is with all good medicine, the modern Orthodox will want to have this testing,” said Zierler. “It’s good medicine to have an awareness, but what do you do with the information? There’s an element of psychotrauma that comes as a result of the information.”
“Dealing largely with a modern Orthodox congregation, many people make decisions independent of the rabbi,” said Zierler. “But rabbis can be very creative. We find solutions. No two situations are entirely the same; they have to be considered on their own merits.”