Center promotes awareness, testing for diseases that affect Ashkenazi Jews

The Facebook page features a photo of five college students, as fetching as the cast of a reality TV show, with this caption:

"1 IN 5 OF US IS A CARRIER FOR A JEWISH GENETIC DISEASE."

If that alarming statistic comes as a surprise, that's the point, says Lois Victor, 71, of Delray Beach, Fla. One in five Jews of Eastern European descent carries a mutation for at least one of 19 rare diseases, yet most are unaware.

Victor founded the Victor Center for Jewish Genetic Diseases at Einstein Medical Center in Philadelphia to inform and test Ashkenazi Jews so mutation carriers can take steps to prevent these 19 diseases.

Carriers themselves are healthy, but when two carriers with the same mutation have a child, their offspring has a one in four chance of inheriting two defective genes - and thus, the illness.

"Most of these diseases are very severe and fatal," Victor said. "The effects that these afflicted children have on the entire family dynamic are indescribable. It's very bad for the couples."

She speaks from personal experience. Fifty years ago, before any screening tests existed, Victor and her then-husband unknowingly played genetic roulette and lost - twice. Their first daughter died at age 8 of familial dysautonomia, which damages parts of the nervous system. Their other daughter died of the disorder at age 35.

Still, the idea to underwrite a genetic counseling and screening center did not take shape until years later, when Victor met Adele Schneider, Einstein's director of clinical genetics.

In 2002, Einstein's Victor Center opened and began offering screening at synagogues, college Hillel centers, and other locations. Since then, centers have been added in Boston and Miami.

"Adele and I started to talk and it turned out to be an excellent partnership," Victor said. "What better cause than to bring healthy children into the world?" (Victor would not say how much money she has given, but said: "I've been blessed that I have more than I need.")

To avoid having an affected child, a couple can opt for adoption, use donor sperm or eggs, or undergo an in-vitro fertility treatment that enables the implantation of unaffected embryos. They can have fetal testing early in a pregnancy if they are willing to consider abortion.

Carrier screening based on ethnic identity is neither new nor without controversy.

In the 1970s, screening began for Tay-Sachs, a devastating nervous-system disorder that is usually fatal by age 4. This led to a dramatic drop in cases among Ashkenazi Jews, even though 1 in 25 carries the mutation.

Indeed, the last time Schneider saw a baby with Tay-Sachs, one parent was of Irish descent. "The Irish do not know they are also at risk of Tay-Sachs," Schneider said, adding that the carrier rate was also high among some French Canadians, Pennsylvania Amish, and Louisiana Cajuns.

Critics say the fact that Ashkenazi Jews are not so genetically unique casts doubt on the value of linking ethnic groups to genetic disease. The basis of such linkages is the "founder mutation effect": a community suddenly contracts because of genocide, a plague, or other causes, then survivors intermarry, reducing the gene pool.

"It's unclear whether the Jewish population called 'Ashkenazi' ever got down to a level that would produce these genes," said Sheila M. Rothman, a professor of public health at Columbia University. "And the whole question of how to define Ashkenazi is problematic. It's a social category that scientists have used as a biological one."

Along with the question of who should be screened is a debate over what to screen them for. As DNA technology has improved, screening panels have grown. The Victor Center recommends a panel including 19 disorders, some with carrier frequencies as low as 1 in 149.

Meanwhile, the American College of Obstetricians and Gynecologists advises screening Ashkenazi Jews for only four disorders. The American College of Medical Genetics suggests testing for nine diseases but says "new discoveries will inevitably result in . . . revised recommendations."

"There is no norm," Schneider said.

The Victor Center has tackled another issue - insurance coverage - by negotiating discounts with leading labs. A screening now costs about $500.

Victor herself works tirelessly to raise awareness. "I've talked to medical students who have signed up to become geneticists afterward," she said. "But a lot of young people are indifferent. They say, 'We don't have any of that in our family.'

"These genes don't go away. They go on from generation to generation. And when the stars are misaligned, that's how you wind up with an afflicted child."

Although the 19 disorders identified as Jewish genetic diseases are individually rare, geneticists estimate that

20 percent of this population group - 1 in 5 - carries a mutation for at least one disease.

Five diseases account for most of the mutations, with carrier frequencies of 1 in 40 or less:

Cystic Fibrosis

Familial Dysautonomia

Gaucher Disease Type 1

Spinal Muscular Atrophy

Tay-Sachs Disease

 A free downloadable Gene Screen app, developed with the help of the Victor Center, is available from the iPhone/iPod Touch App Store or Apple iTunes. The app, which explains concepts of genetics, inheritance, and screening, has a mutation prevalence calculator and interactive ancestry map.

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