For Jocelyn and her husband, both of Ashkenazi descent, the importance of genetic testing was barely a question in their minds when planning to conceive. Aware that their Jewish heritage put them at a higher risk for a number of genetic disorders, they sought out the help of a genetic counselor. Once tested, Jocelyn was identified as a carrier for a Jewish-linked genetic condition that she never knew existed, let alone lay in her DNA. Her husband was tested as well and fortunately, he was not a carrier, meaning they would not pass the condition on to any future children. Unfortunately, not everyone in the Jewish community knows the importance of carrier screening or the expansion of genetic testing beyond Tay Sachs and Cystic Fibrosis.
Today there are many options allowing for a more comprehensive carrier screen than the several genetic diseases traditionally tested for. Since testing for Tay Sachs Disease was introduced in the early 1970’s, genetic testing for people of Jewish heritage has been widely supported by both the medical and the Jewish community. Jewish genetic disorders are a group of genetic diseases which are seen in higher rates among the Jewish population than they are in the general public. Many of these genetic conditions are seen 20 to 100 times more frequently in the Ashkenazi Jewish (Eastern European) population than in the general population. In addition to the genetic disorders linked to the Ashkenazi population, there are also different genetic disorders that are seen in higher rates among the Sephardic and Mizrahi Jewish population. As a result, carrier screening is recommended by the American Congress of Obstetricians & Gynecologists (ACOG) and the American College of Medical Genetics & Genomics (ACMG) for all individuals of Ashkenazi Jewish descent, even if they have no family history or symptoms of genetic disease.
CooperGenomics’ CarrierMap test is the most comprehensive carrier screen available today; which includes a Jewish heritage panel that tests for 38 genetic diseases linked to the Ashkenazi, Sephardic and Mizrahi Jewish population. This includes ACMG’s recommendation of testing for Cystic Fibrosis, Fragile X and Spinal Muscular Atrophy. Along with testing recommended for the Ashkenazi population by ACOG and ACMG for Bloom Syndrome, Canavan Disease, Familial Dysautonomia, Fanconi Anemia Type C, Gaucher Disease, Mucolipidosis Type IV, Niemann-Pick Type A and Tay-Sachs Disease. CooperGenomics also tests for other known Jewish genetic disorders (Click here for the full list).
To learn more about Jewish heritage and genetic disorders you can contact the Center for Jewish Genetics, which provides information and prevention strategies for Jewish genetic disorders and hereditary cancers or the Jewish Genetic Disease Consortium (JGDC) which works with different organizations to prevent Jewish Genetic disorders through, awareness, education and testing.