201696 “It is wise to disclose what cannot be concealed.” – Johann Friedrich Von Schiller

Tuesday, November 10, 2009: 5:13 PM

Melissa Chapman , University of Maryland, Baltimore County (UMBC), Baltimore, MD
Andrea Lynn Kalfoglou, PhD , Sociology & Anthropology, Health Administration and Policy Program, Baltimore, MD
Dor Yeshorim (DY) is devoted to minimizing the incidence of lethal genetic disorders prevalent in the Jewish population. DY tests for nine autosomal recessive traits. To safeguard young adults from psychological and social stigma of carrier status, the system is anonymous, and the results of the screening are not released. When two screened individuals are considering marriage, they provide their designated identification codes. If both are carriers for the same disorder, they are advised against marrying. They are not told what disease they carry. The organization used to advise against marriage when both were carriers for Gaucher's disease. Currently therapy has dramatically improved the prognosis for children with this disease. DY still tests for Gaucher, but unless specifically requested by the couple, it does not inform the pair of the carrier status. DY argues that its goal is to prevent fatal diseases. The principles of autonomy and beneficence suggest that DY has an ethical obligation to inform couples when both are carriers. The organization takes a paternalistic stance in denying couples the ability to make informed decisions regarding mate selection and reproductive choices. Treatment with enzyme replacement therapy is costly and not always successful. Children with Gaucher's disease benefit when they are identified and treated early. Being aware of the risk, allows parents to test their children and/or watch for early symptoms. Finally, new reproductive technologies make it possible for couples who carry the trait to have healthy children, but they must know about their risk before conceiving a child.

Learning Objectives:
Describe the philosophy and practices of Dor Yeshorim in providing genetic testing to Jewish population Identify an emerging controversy over carrier testing notification Evaluate the ethical arguments in favor of disclosing carrier testing results for Gaucher's Disease

Keywords: Bioethics, Genetics

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: I am qualified to give this presentation because I am pre-med with a psychology major. I have taken genetics, cell biology, and abnormal psychology courses which gave me a better understanding into the world of genetics and carrier testing. I have done extensive research on carrier testing in the Ashkenazi Jewish population to develop this paper and have presented earlier drafts at the National Undergraduate Bioethics Conference, The UMBC Undergraduate Research and Creative Achievement Day, and the Johns Hopkins student research day.
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.