A novel approach to jewish reproductive carrier screening

Individuals of Ashkenazi Jewish descent are at an increased risk for 19 recessively inherited conditions, with 1 in 5 Ashkenazi Jews being a carrier for at least one of these disease genes. Carrier couples have a 25% risk for an affected child in each of their pregnancies. Carrier screening and use of this information for reproductive planning can reduce the number of children born with these devastating diseases. Despite the benefits, population-based preconception screening is not readily available in the United States, especially for expanded carrier screening. Unfortunately, public knowledge of the risk for Jewish genetic diseases is limited. In July of 2012, Emory University, in partnership with the Marcus Foundation, commissioned Klein and Partners to conduct interviews of 1411 Jewish adults of reproductive age. The results showed that only 24% of those interviewed knew of their risk and had been screened for any conditions. The majority only had knowledge of their risk for Tay Sachs. Forty-one percent (41%) were not aware at all. Traditional face to face genetic counseling and testing during a physician visit or community screening is not leading to optimal population screening, and new models are needed. Web-based education and the development of saliva-based assays offer a potential solution. The presenter will report on efforts towards creation of an At Home Carrier Screening Program to serve the Jewish population in the United States, and provide an update on the status of program implementation, which is tentatively slated for the summer of 2013.