When Ted Glenn heard that his chances of being a carrier of a life-threatening genetic disease were one in six, he knew what he had to do: get tested. Like all Ashkenazi Jews (with origins in Eastern Europe), Glenn has a high probability of carrying one of 11 genetic disorders that could be fatal in childhood, result in a chronic debility or premature death.
Rather than worry about these grim statistics, Glenn decided to find out if he was a carrier. “Knowing is better than not knowing,” he said. Since there is no Jewish genetic screening program in Tucson, he drove up to the Ina Levine Jewish Community Campus in Scottsdale, where the Jewish Genetic Diseases Center held a screening session on Oct. 3. He was one of six Jewish Tucsonans to make the trek for the bi-annual screening.
Eleven genetic disorders are known to occur more frequently among Ashkenazi Jews than in the general population. Of these, the Center currently screens for a panel of nine: Bloom’s syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia type C, Gaucher disease type 1, Mucolipidosis IV, Nieman-Pick disease type A and Tay-Sachs disease. Descriptions of the symptoms and carrier frequencies are on the center’s website: www.jewishgeneticsphx.org.
Parents who are carriers show no symptoms of the disease, but can pass it on to their children. If both parents are carriers, there is a 50 percent chance of each child being a carrier and a 25 percent likelihood they will have the disease.
Glenn’s test results came back negative. “The probability that I’m a carrier has been greatly reduced,” he said. He shared that information with his 18-year-old daughter, so that she would have the peace of mind of knowing that the odds of her being a carrier are even lower.
Dr. Sherman Minkoff and his wife, Andi, founded the center to raise awareness of Jewish genetic diseases and provide affordable screening. According to Andi Minkoff, these screenings would run between $3,500 and $4,000 if done in a private laboratory. Thanks to partnerships within the Phoenix Jewish community and their work with the non-profit Human Genetics Lab at Jacobi Hospital in Riverdale, N.Y., the center is able to reduce the cost to $50 for 18- to 45-year-old Ashkenazi Jews who live in the Phoenix area. For others, the cost is $300, but a subsidy from the Jewish Community Foundation of Southern Arizona’s Project Dor Habah brings the cost down to $50 for Tucsonans ages 18 to 45.
Online pre-registration opens later this month for the Center’s April 3 screening, which will be held at the Ina Levine Jewish Community Campus, 12701 N. Scottsdale Road in Scottsdale.
Testing is recommended for all Ashkenazi Jews, ages 18 to 45. Of the 745 individuals who have been tested since the Phoenix program began screenings in 2005, 19 percent have been found to be carriers.
“The reason Project Dor Habah is subsidizing testing for members of our age group is clear,” said Project Dor Habah Chair Jeremy Lite. “When we talk about leaving a legacy to the next generation, it should be a legacy of support for Jewish education and institutions, yiddishkeit and financial security. It should also be a legacy of good health and well-being to the extent we can control it. And here is one area where we can influence that legacy.”
Tucsonans Michelle and Evan Glazer heard about the genetic screening program from friends in Phoenix who were tested in 2009. Since Michelle’s family roots are in Russia and Evan’s are in Russia and Romania, they chose to get tested, although neither of them have any known family history of these disorders. Michelle said, “Knowing if one or both of us are carriers will help us make the necessary, educated decisions when, and if, we want to have children.” As Evan pointed out, “The tests results are good forever. This isn’t something that will change. So it’s good to have the information, even if you don’t plan on having children right away.”
When the Glazers arrived at the JCC in Scottsdale, the first step was a group presentation on genetic disorders. They then met privately with a genetic counselor who asked questions about their family heritage and if any siblings had ever been tested. This was followed by a blood draw. The whole process took less than an hour. About eight weeks later, they received their results, which were negative. Since there was no history of any of the diseases in either of their families, Michelle said that they weren’t surprised by the results, but still were glad to know.
To find out more about the screenings, subsidies and upcoming informational meetings, contact Rebecca Goodman , who coordinates a committee on Jewish genetic disorders through the Jewish Federation of Southern Arizona, at 577-9393 or rgoodman@jfsa.org.
By the numbers: The Jewish Genetic Diseases Center in Scottsdale has screened 745 people and found 140 carriers with 152 mutations — 12 people were double carriers. Mutations found include Bloom’s syndrome (5), Canavan disease (17), Cystic fibrosis (30), Familial dysautonomia (24), Fanconi anemia type C (8), Gaucher disease type 1 (29), Mucolipidosis IV (4), Nieman-Pick disease type A (7), Tay-Sachs disease (28).
Nancy Ben-Asher Ozeri is a freelance writer in Tucson.
