Some traditions you don’t want to pass on,” read the advertisement for the Jewish genetic diseases symposium. The ad continued, “One in five Ashkenazi Jews is a carrier of one or more genetic conditions and may not know it.” The goals of last Sunday’s event at Englewood Hospital and Medical Center were to educate the Jewish community and encourage screening for Ashkenazi Jewish genetic diseases. The symposium attracted more than 150 people for sessions that included genetic screening and diagnosis as well as discussions of the Genetic Information Non-Discrimination Act and hereditary breast cancer.
An advocate for testing
|From left are Lois Neufeld, Stanley Michelman, and Dr. Stuart Ditchek, speakers at Sunday’s symposiam. photos by Miryam Z. Wahrman|
Stanley Michelman lost his young grandson, Evan Ungerleider, to Tay-Sachs disease. After a long struggle, the child died at the age of 4. “I learned to dream as if Evan would live forever, but I treated each day as it if were his last,” Michelman said. A Fort Lee resident, he and others like him who have coped with and cared for seriously ill children with Jewish genetic diseases established The Jewish Genetic Disease Consortium three years ago. The organization is now being co-chaired by Michelman and Lois Neufeld of Manhattan.
The JGDC brings together several smaller organizations that focus on prevention, treatment, and support for families coping with the most common Jewish genetic disorders. Eleven diseases are listed on their brochure: Bloom’s syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia type C, Gaucher disease type 1, glycogen storage disorder type 1a, maple syrup urine disease, mucolipidosis IV, Niemann-Pick disease type A, and Tay-Sachs disease. The brochure states, “Our strength lies in our ability to pull together resources and experience to best reach our target audience – medical professionals, rabbis, and the Ashkenazi Jewish population at large. United, we are better equipped to educate this audience about the existence of carrier screening which will ultimately prevent the birth of affected children.”
“We have raised more than $4 million to purchase new research equipment, give research grants, and to do the awareness campaign,” said Michelman. “Members of the medical profession, I urge you to educate all your patients. Have them take the full panel of genetic tests. Rabbis and cantors, educate all young couples who are about to be married to be screened. If you are about to have children or your children are, please be tested or urge them to be tested.” Michelman added, “The future will be much better if you can celebrate rather than memorialize.”
Randy Yudenfriend Glaser, a co-founder of JGDC, and her husband are raising five children, two with mucolipidosis type IV (ML4). Children with ML4 do not learn to walk or talk and they lose their vision as they get older. The Glasers’ first child, Lauren, “was a beautiful little girl, who stopped reaching milestones by age 10 months,” recalled Glaser. ML4 is a rare disease, and it took a year for doctors to correctly diagnose it. Routine genetic screening was unavailable at that time, but scientists in Israel had developed a technique using microscopy to determine if a fetus would have the disease. Using that method, the Glasers were able to ensure that their second child was healthy, “a miracle child,” she said. However, the technique was not foolproof and it failed to detect ML4 in their third child. “The test was a false negative, and we knew by three months that Jonathan wasn’t OK,” said Glaser. “Lauren and Jonathan are beautiful children but they struggle to do what comes naturally to any child. They will never walk or talk. We will never hear ‘Mommy’ or ‘Daddy’ or ‘I love you.'”
|Rabbi David Fuld speaks about genetic screening of embryos.|
At that time there was no reliable test, but now there is a carrier test that is very accurate. Glaser concluded, “I urge you, whether you are having children or grandchildren, please educate them. People do not have to suffer the tragedy of losing a child, or raising multiply-handicapped children.”
Kosher genetic screening
Rabbi David Fuld has had a unique role in advancing the cause of Jewish genetic testing. He and his wife, Anita, founded the Fuld Family Department of Medical Genetics at Shaare Zedek Medical Center in Jerusalem. Shaare Zedek has a program for preimplantation genetic diagnosis (PGD) of embryos that provides couples with the opportunity to genetically screen embryos. A major advantage of PGD is that healthy embryos are identified and chosen before the woman becomes pregnant. “There is no question that PGD is allowable by Jewish law,” reports Fuld. Since PGD is rabbinically sanctioned it enables those who would not want to terminate a pregnancy to avoid having children with devastating genetic disorders.
In the observant Jewish community, a program called Dor Yeshorim has been established to genetically screen young people before they become couples. That approach is successful in communities where couples meet through a shadchan, or matchmaker. The genetic information on each young woman and man is referred to before a match is made, so that couples who are genetically incompatible are never matched up.
“For Dor Yeshorim, their solution for a couple [with genetic disease issues] is: ‘don’t get married.’ This approach intimidates people not to go ahead with genetic testing,” said Fuld. “With the Westernized system of romantic courtship, dating, and falling in love, this doesn’t work.”
For couples identified by genetic screening who are at risk of having a baby with genetic disorders, until recent years the choices had been limited to testing the fetus using amniocentesis (done at 15 weeks from last menstrual period) or chorionic villus sampling (or CVS, which is done at 10 to 12 weeks). In the 1990s, preimplantation genetic diagnosis and embryo biopsy were developed. The procedure requires the couple to use in vitro fertilization, where eggs are recovered from the woman’s ovaries and fertilized with the husband’s sperm in a petri dish. The embryos that develop are monitored until they reach the eight-cell, or blastocyst, stage. At that point microscopic tools are used to dissect the embryos. A single cell is removed from each tiny embryo (leaving seven cells behind that can still regroup and grow into a healthy child). The biopsied cell is tested to detect abnormal chromosomes or mutant DNA sequences associated with specific diseases.
The advantage of PGD, as explained above, is that the embryos with genetic defects are discarded before a pregnancy is established. The disadvantages include the expense, inconvenience, pain, and invasiveness of in vitro fertilization. In addition, PGD using embryo biopsy is not foolproof, and according to Fuld, this approach to genetic screening can lead to false negatives up to 16 percent of the time. Such errors can occur because sometimes not all the cells in the embryo are genetically alike, so an embryo that appears to be free of a genetic mutation may harbor the disease gene in its untested portion – the very cells that go on to become the baby.
Shaare Zedek Medical Center has adopted a new technology for PGD that dramatically reduces the chance of such an error. The technology, called polar body analysis, was pioneered by Yuri Verlinsky and his team at the Chicago-based Reproductive Genetics Institute. It involves genetic testing of parts of the egg and the embryo that more closely mirror the genetics of the whole embryo.
When a mature egg is produced, it must expel extra sets of chromosomes. Two polar bodies, the tiny cells containing those extra chromosomes, can be removed from the egg or embryo without causing damage. By studying the genetic complement of the polar bodies, we can infer the genetic makeup of the embryo with great accuracy.
|Rachel Dube, EHMC’s liaison to the Jewish community, organized the symposium.|
“Shaare Zedek has a very successful PGD with polar body technique,” said Fuld. “There have been 57 births and 14 ongoing pregnancies so far.” Fuld also reported that the clinic has had a perfect track record, with no false positives so far, meaning that all the babies born were free of the genetic diseases they were being screened for.
Fuld reported that the Shaare Zedek program has one of the highest pregnancy rates in the world. That may be due to an additional step used, called intracytoplasmic sperm injection (ICSI). During the procedure of recovering the polar bodies from each egg, the technician can also mechanically inject a single sperm into each egg, ensuring a high rate of fertilization. “We are hitting home runs at Shaare Zedek,” said Fuld.
Judith Palkovitz, speaking on behalf of Hadassah, the Women’s Zionist Organization of America, explained the activities of Hadassah and other advocacy groups in addressing genetic discrimination. “Hadassah’s position is that genetic testing should be available to anyone who wants it. They should be able to make decisions based on all the information they can get,” said Palkovitz. “But the downside is, if you take a genetic test you could be risking your health insurance or your employment.”
After 13 years of lobbying and advocacy by Hadassah and other groups, the Genetic Information Non-Discrimination Act of 2008 was finally passed by Congress and signed into law by President Bush in the spring. “It was fought by insurance companies and by consortiums of businesses,” Palkovitz reported. “For years we told people that there’s a downside to testing. Some people practiced ‘medical tourism.’ They got tested in Israel and paid for it themselves, so there would be no paper trail. [GINA] has obviated the necessity for worrying about this.”
DNA testing: Spit in a cup
Dr. Stuart Ditchek, a Brooklyn pediatrician, held a genetic testing clinic at the symposium, using the services of the Molecular Genetics Laboratory of NYU School of Medicine. The clinic provided DNA Self-Collection kits containing a plastic vial for collection of saliva. Sample collection for DNA analysis is painless, and as easy as spitting into a cup.
Ditchek, who holds a faculty appointment at NYU Medical School and is medical director of JGDC, explained that in his pediatric practice he encounters seriously ill children with Jewish genetic diseases. Treating those suffering children and interacting with their families drove him to become a strong advocate of genetic screening.
A new project he is working on with the JGDC is aimed at enrolling college age youth in Jewish genetic testing programs. To reach the younger target population, enrollment over a secure, confidential Website is being set up; it is scheduled to be available in mid-October. A link to the program will be provided on the JGDC Website (www.JewishGeneticDiseases.org). The organization is planning to reach Jewish college students through their Hillel chapters, as well as through Facebook. According to Ditchek, the JGDC also plans to phase in genetic testing for Jewish high-schoolers over the next two years. That program will require parental consent.
One of the goals of the JGDC is to ensure that insurance carriers pay for Ashkenazi genetic disease screening, which can cost up to $1,100 for the panel of 11 tests. Ditchek explained that the JGDC finds out which carriers are reluctant to pay and talks to those companies about their “discriminatory practices.” Ditchek reasoned that health insurance carriers should be willing to cover the testing, as it will prevent children from being born who will incur tremendous medical costs that the companies will have to pay.
A community liaison
Rachel Dube, the Jewish community liaison for Englewood Hospital and Medical Center, conceived of and organized the symposium because, she said, “it’s life-saving information. People think they understand, but they don’t really. There are many myths [about genetic diseases]. It’s important to know what’s true and what is not.” Dube, an Englewood resident, recalled that when she was pregnant with her first child, “the doctor automatically did the Ashkenazi panel of tests.” The results showed that Dube was a carrier for maple syrup urine disease. Her husband had to then be tested to determine if he was a carrier of the same disorder. “The time period between hearing of my status and my husband getting tested was a frantic, horrible time,” she recalled. “I can say first-hand how important it is to have the testing completed before you get pregnant.” To the couple’s relief, he was not a carrier.
Dube also reported that many young couples are not being encouraged to get tested. “A recently married girl I met at the symposium told me, ‘With all the rabbis that I encountered – kallah [bride] classes, the rabbi of my shul, and the rabbi officiating at the wedding – none ever mentioned genetic testing.'” Dube said, “Rabbis and obstetricians have an incredible responsibility, but they are not talking about it. It’s not on their radar.”
Dube had the symposium videotaped to use to spread the word about testing. “I would like to create a rabbinical kit and an obstetrician kit, which would include a video” and inform rabbis and doctors of their responsibility to make young men and women aware that genetic testing is available.
The symposium also included sessions on hereditary breast cancer screening and support services for survivors, including information on screening for BRCA1 and BRCA2, and on Sharsheret, a national support group for women with breast cancer.
The symposium was also sponsored by Genzyme Genetics, Hadassah, Jewish Genetic Disease Consortium, Kaplen JCC on the Palisades, Menagerie Catering, Myriad Genetic Laboratories, the National Council of Jewish Women, Shaare Zedek Medical Center, Sharsheret, and The Village Copier.