Expert: test for genetic disorders

Gary S. Frohlich
By Arlene Fine, The Cleveland Jewish News

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, senior medical affairs liaison for Los Angeles-based Genzyme Therapeutics.

Frohlich will present the lecture, You May Have Inherited More Than Your Blue Eyes, at Beth Abraham Synagogue on Oct. 14. The program, including a kosher deli dinner for the first 70 to register, is sponsored by the Jewish Genealogical Society of Dayton, Beth Abraham Men’s Club and Sisterhood.

Many defective genes have been identified, and work is ongoing to discover feasible methods for cures. While investigations of genetic treatments continue, Frohlich notes, 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,” he says. “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 Frohlich adds.

Gary S. Frohlich

“Genetic studies show that 42 percent of the Ashkenazi Jews on this planet are related to four women who lived sometime between the 10th and 13th century C.E.,” he says. “I ask genealogists to shake their family trees and help identify people with JGD so they can educate other family members. 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,” he says, “our educational efforts did not keep up with scientific discoveries.”

Since the key to mitigating the pain and suffering caused by many of these disorders lies 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 percent chance of having a child with a disorder, a 50 percent chance a child will be a carrier of the disorder, and a 25 percent chance of the child not inheriting the disorder or gene.

Most rabbis are good resources for Jewish genetic testing. Screening is conducted in a handful of reliable labs (see sidebar), 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.

The ideal time for JGD testing is prior to pregnancy, Frohlich says. 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.

He also urges JGD testing for couples in which only one partner has some Jewish lineage.

“We don’t ‘own’ these diseases,” he says, “we are quite simply more likely to be carriers due to founder effect in the Ashkenazi Jewish population. However, we find persons who are carriers of these diseases in all population groups. Therefore, when even one person is even of partial Ashkenazi Jewish ancestry, there is still a chance for a child to be born to the couple with an Ashkenazi Jewish disorder.”

One of the benefits of being screened for preventable disorders, Frohlich says, is to allow couples to plan their families and avoid the suffering that comes with having a child with a fatal genetic condition.

The Jewish Genealogical Society of Dayton, Beth Abraham Men’s Club and Sisterhood present Gary S. Frohlich, Wednesday, Oct. 14, dinner at 6:30 p.m. lecture at 7:30 p.m. Dinner is available to first 70 to R.S.V.P. to David Rothschild, 890-5241.

 

For more information about Jewish genetic disease screening:

• Jewish Genetic Disease Consortium: www.jgdc.org

• Gene Tests: www.genetests.org

• National Society of Genetic Counselors: www.nsgc.org

• Gaucher Disease: www.ngf.org

• To locate a testing center, call the Jewish Genetic Disease Consortium at 866-370-GENE (4363).

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