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.
Assessment of individual and community needs for health education
Implementation of health education strategies, interventions and programs
Planning of health education strategies, interventions, and programs
Discuss the current state of awareness of risk for Jewish Genetic Diseases.
Describe efforts to create an At Home Carrier Screening Program.
Keyword(s): Access and Services, Birth Outcomes
Presenting author's disclosure statement:
Qualified on the content I am responsible for because: I am a board-certified genetic counselor who is a faculty member at Emory University who has been a co-leader on the project to be presented.
Any relevant financial relationships? No
I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines,
and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed
in my presentation.