One in 15 Ashkenazi Jewish individuals is a carrier for Gaucher Disease.
Thus reads the opening statement on the Jewish Genetic Diseases Center’s website (jewishgeneticsphx.org). It’s a startling fact, and the rest of the site is also filled with facts and figures many people work hard to ignore. We don’t want to think about it, don’t want to imagine the worst. But we do need to be realistic, informed and aware. In the 1970s Jewish young adults were screened for Tay-Sachs, a devastating Jewish genetic disease found in those of Ashkenazi descent. But then the issue seemed to quiet down.
With the mapping of the human genome, however, has come greater knowledge and understanding. The local Jewish Genetic Diseases Center of Greater Phoenix now screens for 18 different diseases, including Tay-Sachs and Gaucher’s along with cystic fibrosis, familial dysautonomia and spinal muscular atrophy, to name just some of the more common diseases found in this particular population.
How does it happen? How can a “religion” have its own diseases?
But then Jews don’t just pray together. Historically they have lived together. They set up towns and villages and lived in shtetls. Like many other ethnic groups living in close proximity, Ashkenazi Jews, those from Central and Eastern Europe, practiced endogamy, marrying within a specific group. The genetic result is known as the “Founder Effect,” a loss of genetic variation created when a new community is established by a very small number of individuals from a larger population. Similar anomalies are found in other close-knit groups as well, from the Amish to African-Americans to Cajuns. A mutated gene makes its way into the population and spreads.
Andi and Dr. Sherman Minkoff were in a Havurah in the late 1990s when the studies on the Human Genome project were coming to light. If genes could be isolated and tested, what would that mean to families? Their group talked about Jewish ethical questions: would this lead to “designer” babies, would there be more abortions if fetuses were found to be imperfect and so on? The discussions were heated and fascinating.
When it was discovered that certain gene mutations were prevalent in the Jewish community, the Minkoffs gathered some funding and offered educational information to clergy and doctors. They figured that would be their contribution to help individuals make informed decisions. But as the information got out, some people were understandably frightened. The prognoses of these diseases are horrific. Young adults wanted to be screened, but costs for the screening panels were up to $4,000.
“That’s when we realized we had a tiger by the tail,” says Andi. “We had to do more.” As long-time, devoted members of the Jewish community in the greater Phoenix area, the Minkoffs set about creating a local chapter of the Jewish Genetic Diseases Center. They raised money, “worked a deal” with a laboratory and started spreading the word. On their own they delivered fliers, talked to groups, did all they could to let people know that the center was here and ready to offer screenings – now for 18 diseases – for $60 a person. Carrier testing is offered twice a year. Screening involves a simple blood test, and results come back within four to six weeks. If a person is not a carrier, he or she is informed by mail. Carriers are called and come in for an appointment. But, as Andi reinforces, both parents have to be carriers before a child would be affected. “Even if both parents are carriers,” she adds, “there is a one in four chance of having an affected child. They still have a wide variety of options available to them with all the advances in fertility therapy.”
The National Jewish Genetic Disease Consortium (jewishgeneticdiseases.org), a somewhat informal group, recommends screening if even one grandparent is Jewish. JGDC also lists 16 diseases more prevalent in the Sephardic and Mizrahi communities, but there is currently no one-panel screening. All Jews are encouraged to be screened for cystic fibrosis and spinal muscular atrophy. The local screening does not include the BRCA gene mutations, which are linked to hereditary breast and ovarian cancer. “Those are dominant genes,” explains Andi. “The others are recessive. If you have a dominant gene mutation, you yourself can be affected by the disease. That type of screening needs to be more individualized.”
The center has recently expanded its mission to provide necessary resources and support to individuals who wish to learn more about their personal risks for these diseases.
WHAT’S IN YOUR GENES?? FASHION SHOW
WHaT: Brunch and fashion show from the Scottsdale Jean Company
WHEN: 11 am-1 pm, May 2
WHY: Fun fundraiser for Jewish Genetic Diseases Center | wear jeans and bring an extra new or gently used pair for the “jean pool” to be distributed to the needy through Jewish family and Children’s services
SPEAKER: Randy Gold, founder of Gene Screen in Atlanta
WHERE: Ancala Country Club, 11700 E. Via Linda, Scottsdale
COST: $46 ($2 for each chromosome!)
RSVP: 480-668-3347 or jewishgeneticsphx.org
