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Expert urges testing for genetic disorders
By ARLENE FINE
Senior Staff Reporter
Ashkenazi Jews share a history rich in eastern European traditions and a strong sense of community. But they also share an increased incidence of Jewish genetic disorders (JGD) such as Gaucher, Tay-Sachs, familial dysautonomia, cystic fibrosis, Niemann-Pick and Canavan.
Early screenings for these disorders and others can identify inherited genes that could lead to genetic disorders in children, says Gary S. Frohlich, M.S., CGS, senior medical affairs liaison for Genzyme Therapeutics. Frohlich will speak about “Our Heritage and Our Health – The Importance of Being Informed” at the Jewish Genealogy Society of Cleveland event on June 3.
Many defective genes have been identified, and work is ongoing to discover feasible methods for cures. While investigations of genetic treatments continue, notes Frohlich, Jews of Ashkenazi descent should use the current facts and genetic screenings and counseling for their benefit.
“During the Crusades, many Ashkenazi Jewish communities were driven from England, France and Germany and migrated to eastern Europe, settling primarily in modern-day Poland, Lithuania and Russia,” explains the affairs liaison for Genzyme Therapeutics. “Ashkenazi Jews tended to select marriage partners from within their own community, which played a role in limiting genetic diversity.”
Gene mutations of this population remained within the community and increased in frequency over time, adds Frohlich. “Genetic studies show that 42% of the Ashkenazi Jews on this planet are related to four women who lived sometime between the 10th and 13th century.”
“I ask genealogists to shake their family trees and help identify people with JGD so they can educate other family members,” says Frohlich, a certified genetic counselor. “At this point we are able to screen for at least 11 Jewish Genetic Disorders, and some centers can screen for up to 15 to 25 JGD. Also, people need to know that we now have a successful treatment for Gaucher disorder, the most common JGD.”
In the 1970s there was a concerted effort to educate Ashkenazi Jews about the importance of Tay-Sachs screening, resulting in a significant decline in the number of babies born with this fatal condition. “But as the number of identified JGD among the Ashkenazi population grew, our educational efforts did not keep up with scientific discoveries,” laments Frohlich.
Since the key to mitigating the pain and suffering caused by many of these disorders seems to lie in expanding public awareness of JGD and advanced screening programs, Frohlich often speaks to synagogues, genealogy societies, Jewish organizations, and Hillels.
Most JGD are autosomal recessive genetic disorders. This means that both the mother and the father have to have the gene for the disorder for their child to be affected. When both partners have the mutation for the same condition they face: a 25% chance of having a child with a disorder; a 50% chance a child will be a carrier of the disorder; and a 25% chance of the child not inheriting the disorder or gene.
Most rabbis and Jewish family services are good resources for Jewish genetic testing. “We embrace the idea of being informed of facts and realities that can help a young couple plan a future together,” says Park Synagogue’s Rabbi Joshua Skoff. “This conversation is part of the guidance we give in pre-marital counseling.”
Screening is conducted in a handful of reliable labs (see box), but patients must check with their insurance company to make sure the lab they select is covered by their plan. Tests can cost anywhere from $260 to $3,000 each and take about three weeks to get results. Some Hillels and other Jewish organizations offer free screenings, but not in Cleveland.
The ideal time for JGD testing is prior to pregnancy, says Frohlich. Couples who have had testing and discover they have the genetic mutation should see a genetic counselor to get advice about family planning options, including an assisted reproductive technique known as preimplantation genetic diagnosis.
One of the benefits of being screened for preventable disorders, notes Frohlich, is to allow couples to plan their families and avoid the tsoris (trouble) and suffering that comes with having a child with a fatal genetic condition.
afine@cjn.org
Important JGD websites
• Jewish Genetic Disease Consortium: jgdc.org
• Any Lab Test Now: anylabtestcleveland.com/jewish
• Gene Tests: genetests.org
• National Society of Genetic Counselors: nsgc.org
• Gaucher Disease: ngf.org
• To locate a testing center, call the Jewish Genetic Disease Consortium at 866-370-GENE (4363).
WHAT: Jewish Genealogy Society of Cleveland featuring genetic counselor Gary S. Frohlich
WHERE: Menorah Park
WHEN: Wed., June 3. Free dinner at 6:30; speaker at 7:30
CONTACT: Ken Bravo at 216-381-5910. Reservations required
University Hospitals’ Mt. Sinai Center for Jewish Genetic Diseases, founded by the Mt. Sinai Community Partners, is a local resource that provides genetic counseling, testing and educational programs. A free carrier screening program will be offered this summer. Check upcoming issues of the CJN for more information. The center also provides lectures about genetics to organizations.
The Mt. Sinai Center for Jewish Genetic Diseases
Center for Human Genetics
University Hospitals Case Medical Center
11000 Euclid Ave., Lakeside 1500
Cleveland 44106
216-844-3936
Early screenings for these disorders and others can identify inherited genes that could lead to genetic disorders in children, says Gary S. Frohlich, M.S., CGS, senior medical affairs liaison for Genzyme Therapeutics. Frohlich will speak about “Our Heritage and Our Health – The Importance of Being Informed” at the Jewish Genealogy Society of Cleveland event on June 3.
Many defective genes have been identified, and work is ongoing to discover feasible methods for cures. While investigations of genetic treatments continue, notes Frohlich, Jews of Ashkenazi descent should use the current facts and genetic screenings and counseling for their benefit.
“During the Crusades, many Ashkenazi Jewish communities were driven from England, France and Germany and migrated to eastern Europe, settling primarily in modern-day Poland, Lithuania and Russia,” explains the affairs liaison for Genzyme Therapeutics. “Ashkenazi Jews tended to select marriage partners from within their own community, which played a role in limiting genetic diversity.”
Gene mutations of this population remained within the community and increased in frequency over time, adds Frohlich. “Genetic studies show that 42% of the Ashkenazi Jews on this planet are related to four women who lived sometime between the 10th and 13th century.”
“I ask genealogists to shake their family trees and help identify people with JGD so they can educate other family members,” says Frohlich, a certified genetic counselor. “At this point we are able to screen for at least 11 Jewish Genetic Disorders, and some centers can screen for up to 15 to 25 JGD. Also, people need to know that we now have a successful treatment for Gaucher disorder, the most common JGD.”
In the 1970s there was a concerted effort to educate Ashkenazi Jews about the importance of Tay-Sachs screening, resulting in a significant decline in the number of babies born with this fatal condition. “But as the number of identified JGD among the Ashkenazi population grew, our educational efforts did not keep up with scientific discoveries,” laments Frohlich.
Since the key to mitigating the pain and suffering caused by many of these disorders seems to lie in expanding public awareness of JGD and advanced screening programs, Frohlich often speaks to synagogues, genealogy societies, Jewish organizations, and Hillels.
Most JGD are autosomal recessive genetic disorders. This means that both the mother and the father have to have the gene for the disorder for their child to be affected. When both partners have the mutation for the same condition they face: a 25% chance of having a child with a disorder; a 50% chance a child will be a carrier of the disorder; and a 25% chance of the child not inheriting the disorder or gene.
Most rabbis and Jewish family services are good resources for Jewish genetic testing. “We embrace the idea of being informed of facts and realities that can help a young couple plan a future together,” says Park Synagogue’s Rabbi Joshua Skoff. “This conversation is part of the guidance we give in pre-marital counseling.”
Screening is conducted in a handful of reliable labs (see box), but patients must check with their insurance company to make sure the lab they select is covered by their plan. Tests can cost anywhere from $260 to $3,000 each and take about three weeks to get results. Some Hillels and other Jewish organizations offer free screenings, but not in Cleveland.
The ideal time for JGD testing is prior to pregnancy, says Frohlich. Couples who have had testing and discover they have the genetic mutation should see a genetic counselor to get advice about family planning options, including an assisted reproductive technique known as preimplantation genetic diagnosis.
One of the benefits of being screened for preventable disorders, notes Frohlich, is to allow couples to plan their families and avoid the tsoris (trouble) and suffering that comes with having a child with a fatal genetic condition.
afine@cjn.org
Important JGD websites
• Jewish Genetic Disease Consortium: jgdc.org
• Any Lab Test Now: anylabtestcleveland.com/jewish
• Gene Tests: genetests.org
• National Society of Genetic Counselors: nsgc.org
• Gaucher Disease: ngf.org
• To locate a testing center, call the Jewish Genetic Disease Consortium at 866-370-GENE (4363).
WHAT: Jewish Genealogy Society of Cleveland featuring genetic counselor Gary S. Frohlich
WHERE: Menorah Park
WHEN: Wed., June 3. Free dinner at 6:30; speaker at 7:30
CONTACT: Ken Bravo at 216-381-5910. Reservations required
University Hospitals’ Mt. Sinai Center for Jewish Genetic Diseases, founded by the Mt. Sinai Community Partners, is a local resource that provides genetic counseling, testing and educational programs. A free carrier screening program will be offered this summer. Check upcoming issues of the CJN for more information. The center also provides lectures about genetics to organizations.
The Mt. Sinai Center for Jewish Genetic Diseases
Center for Human Genetics
University Hospitals Case Medical Center
11000 Euclid Ave., Lakeside 1500
Cleveland 44106
216-844-3936
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alperbehar wrote on May 31, 2009 11:15 AM:
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