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The Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia has been at the forefront of screening, education and genetic counseling regarding the 19 diseases that have a high carrier rate in the Ashkenazi Jewish population, or those whose ancestors are from Central and Eastern Europe.
The goal is to provide individuals who are carriers with the knowledge to prevent these diseases from being passed on to their children. Up until recently, the high cost of screening has presented a financial barrier to some at risk adults, who should be screened prior to becoming pregnant. Now, with a newly formed relationship with AMDx Laboratory Sciences in Farmington Hills, Michigan, the Victor Center announces the cost of screening for the full panel of 19 is capped at $25 for all insured individuals.
Furthermore, a 1 in 4 carrier rate for at least one of the 19 Jewish genetic diseases has been identified in a recent study conducted by the Victor Center at their Philadelphia, Boston, Miami, and Pittsburgh Centers and in partnership with the Atlanta Jewish Gene Screen and the Chicago Center for Jewish Genetic Disorders.
The multi-center analysis of 526 individuals screened for 19 Jewish genetic diseases yielded a carrier rate of 1 in 3.9, representing a significant change from the prior carrier rate of 1 in 5, calculated for 16 diseases.
“Through Interfaith marriages and adoption, people who may or may not identify as Jewish or who are not aware of their ancestry, may have unknowingly inherited ‘Jewish’ genes and may also be carriers of any of the 19 Jewish genetic diseases,” said Adele Schneider, M.D., Medical Director of the Victor Center, and one of the geneticists involved in the study.
In every ethnic group there are certain diseases for which people are at risk to be carriers with no way of knowing since their own health is not affected. These diseases range from the more familiar Tay-Sachs disease to lesser-known diseases such as Walker-Warburg Syndrome and Nemaline Myopathy. Therefore all adults of reproductive age should discuss with their doctors preconception screening for the genetic disorders for which they are at risk of being a carrier, based on their ancestry.
Added Dr. Schneider, “We are finding that ethnic groups other than Ashkenazi Jews are also carriers of genetic diseases that occur at a higher rate in the Jewish population, particularly Tay-Sachs disease, which is known to have a relatively high carrier rate in the Irish, Cajun and French Canadian populations.”
In the past, prospective parents had no way of knowing whether they were carriers of a genetic disease that could threaten the health and life of their children – until it was too late and a child was born and became sick.
For Jewish individuals of Central and Eastern European descent, the potential danger was particularly great, since today we know that 1 in 4 Ashkenazi Jews is a carrier for at least one of 19 different genetic diseases, most of which strike in childhood, have no cures, are all debilitating, and in many instances can lead to an early death.
Today, with advances in the field of genetics, scientists have identified many gene mutations that cause these inherited diseases, thus enabling individuals who are screened before pregnancy to know whether their children will be at risk. “Even if both parents are identified as carriers of any of the 19 diseases, with the help of a genetic counselor to discuss their options, they may still have healthy biological children,” continues Debby Hirshman, Victor Center National Director.
The Victor Center was founded by Lois Victor, who herself lost two children to a Jewish genetic disease and was determined to help spare other families the same heartbreak.
Just as a grass-roots community campaign for Tay-Sachs disease has been successful in reducing the incidence of that disease by 90 percent through public education and screening, Ms. Victor’s goal is to advocate screening for all the Jewish genetic diseases, raising public awareness that a simple blood test before pregnancy can prevent a family tragedy.
Through the Victor Center and its work around the country, all at-risk individuals are now able to be screened for 19 specific diseases — and with advances in testing, that list is constantly being expanded. A simple blood test is all that is necessary for screening for the entire Jewish genetic disease panel and individuals, including Interfaith couples, should be screened before pregnancy and updated for new diseases prior to each subsequent pregnancy.