Melissa Chapman, Biology
“Survey of Ashkenazi Jewish Young Adults Attitude about Testing for Gaucher’s Disease”
Faculty Mentor: Dr. Andrea Kalfoglou
Expected Graduation Date: Fall 2010
Ashkenazi young adults in college and even high school have been encouraged since the 1970’s to be tested for their risk of passing Tay Sachs on to their children. Today, “Jewish panels” include carrier tests for from four to ten diseases which vary in terms of their frequency within the population, test sensitivity and specificity, and the penetrance of disease. Recently, controversy has erupted about whether or not Type 1 Gaucher disease ought to be included in the Ashkenazi carrier-testing panel because it frequently has mild to no symptoms and usually can be treated with a new enzyme replacement therapy. In rarer cases, it can be life-threatening and very painful. We can learn from the carrier-testing experiences of members of the Ashkenazi Jewish population. This study will use mixed methods to conduct a public consultation with Ashkenazi young adults to better understand their knowledge, attitudes, and expectations around carrier testing. These data can serve as a model to inform policymakers about the expectations of consumers for the design and implementation of the next generation of carrier testing. We will first qualitatively explore this topic through focus groups with young adults in Baltimore and New York City who have 1) not been tested; 2) been tested through Dor Yeshorim (a private testing organization that serves primarily the Orthodox Jewish community but wants to expand to provide services for less traditional Jews. The organization does not disclose individual test results); and 3) been tested through a physician/center/laboratory where they received their individual test results. Our findings may have broad-based implications for the development of policy and practice guidelines for multiplex genetic-carrier testing.