The Laurence A. Jacobs M.D. Blog

As a member of the Medical Advisory Board at the Chicago Center for Jewish Genetic Disorders, I am working to spread the word on the importance of being screened for Jewish genetic diseases, such as familial dysautonomia, Tay Sachs, cystic fibrosis, Gaucher disease, Canavan disease and Niemann-Pick disease.

Recent studies have shown that 1 in every 3.3 Ashkenazi Jews (descendants of Jewish communities along the Rhine in Germany) carry at least one of 16 detectable diseases. Just within the last year our capabilities for screening have increased significantly from 16 to 19, and this number is up from 11 in 2009.

The Universal Genetic Test by Counsyl is a safe, inexpensive, non-invasive medical test that screens for dozens of serious genetic diseases, such as Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), Sickle Cell, and Tay-Sachs disease (TSD). These genetic diseases cannot be cured, but men and women who screen before having children and test positive for the same condition have a number of reproductive options available to them, including IVF coupled with preimplantation genetic diagnosis (PGD). By screening simultaneously for more than 100 single gene genetic diseases at only $349, Counsyl’s Universal Genetic Test represents a major breakthrough in carrier screening! It is far less expensive yet far more comprehensive than currently available carrier screening and should be offered to all couples planning to have a child.