Twenty percent. You probably think I’m alluding to the economy, right? No, I’m talking about Jewish genetics, and that 20 percent isn’t a social class — it’s the fraction of Ashkenazi Jews who are carriers of at least one of 19 preventable genetic diseases.
If you knew your future child might be born with a genetic disease you could have prevented, would you prevent it? If you knew they might not live beyond early childhood, or that their quality of life would be dismal, wouldn’t you take every step possible to make sure that didn’t happen? What if you were that one in five, a carrier of a potentially life-threatening disease? Wouldn’t you want to know? Knowledge is power, as they say, and this isn’t one area I’d like to live in blissful ignorance.
By Jessica Hanewinckel
Today, Ashkenazi Jews of child-bearing age (those with Eastern and Central European lineage) can be tested for 19 of these genetic diseases that occur more frequently (but not exclusively) in the Ashkenazi Jewish population. In other words, those 19 diseases can be prevented. That’s the good news. The bad news: many people don’t know about the risks or how to go about being screened; they think because they were tested earlier in life they know all the diseases for which they’re a carrier; or their doctors aren’t even aware of or offer the complete panel of tests.
You see, there’s no way to know you’re a carrier for, say, spinal muscular atrophy or familial dysautonomia, two of the diseases for which screenings are available, unless you a.) have an affected child or b.) get screened. That’s because carriers don’t have the disease themselves or present any symptoms. On the offchance both partners share a common mutation, they have a 25 percent chance of giving birth to an affected child, a 50 percent chance of having a child who is also a carrier but not affected, and a 25 percent chance the child is neither a carrier nor affected. Affected children are often born to parents who have no known family history of a given disease; the mutation is simply passed down through each successive carrier generation until it finally emerges in a child with two affected parents.
The solution to prevention is multi-faceted and complex. It’s a combination of creating a greater awareness of testing among Ashkenazi Jews (those who have been tested previously and those who never have), assisting with screening costs if necessary, securing funding to make a formal community-wide program possible, educating rabbis about their important role in informing couples about screening when preparing to marry them, and informing physicians about the full panel of tests.
The Jewish Federation of San Diego County took steps to make this all possible in the San Diego area when it awarded a 2010-11 Community Innovation Grant to the Victor Center of the Albert Einstein Medical Center, specifically so the Center could speak in San Diego about the potential for a future local Jewish Genetic Gene Screen program. At a luncheon Oct. 27, representatives from the Philadelphia-based Victor Center — whose goal is to inform and test Ashkenazi Jews so they can be screened and prevent the perpetuation of the diseases — spoke to rabbis, philanthropists and community leaders at the Lawrence Family JCC about the importance of this transformational community conversation we need to have.
According Debby Hirshman, project director at the Victor Center, protocol just a few years ago, from 2004 to 2006, was to test for just eight diseases. Since then, the number has more than doubled — proving why some people who were previously tested might need to be tested again. As time passes and more screenings become available, retesting will be vital to eradicating the incidence of these diseases (though, because they can be passed on to healthy carriers, the diseases themselves will never be eliminated). And it’s the goal of the Victor Center, Hirshman adds, to eventually decrease the incidence by 90 percent.
How far a gene screen project will go in San Diego remains to be seen. The Victor Center is applying for a second Innovation Fund Grant for the 2011-12 year, and community leaders are now aware of the issue, thanks to Federation Immediate Past Board Chair Andrea Oster, who spearheaded the effort, and better equipped to begin tackling it in their own circles if they hadn’t done so already. Until a formal Jewish Gene Screen program comparable to the successful Atlanta Jewish Gene Screen (www.atlantajewishgenescreen.org) becomes a reality in San Diego, let’s make sure to do our part by being screened ourselves, talking to our doctors and rabbis about the roles they play and directing friends and family who should be screened to www.victorcenters.org, to (877) 401-1093 or to “Gene Screen,” a free, downloadable app that teaches how diseases are inherited and provides information on genetic screening programs. It’s not the solution, but it’s a good place to start.