Orthodox Ashkenazi Young Adults’ Knowledge, Experiences, Attitudes, and Beliefs About Genetic Carrier Testing

Background: The Orthodox Ashkenazi Jewish community promotes carrier testing of young adults prior to dating in order to prevent the birth of children affected with genetic diseases. It is unclear how much this young consumer group understands about carrier testing and the testing options available to them, particularly around the inclusion or exclusion of Gaucher disease carrier screening on testing panels. Additionally, little is known about their attitudes toward the use of reproductive technologies to avoid having affected children. Methods: We conducted eight focus groups with 49 Orthodox Ashkenazi young adults. Participants were assigned to groups based on gender and whether or not they had received carrier testing. Audiotapes were transcribed and transcripts analyzed for themes.Results: Most participants expressed trust in Dor Yeshorim's anonymous testing process, but many were unaware of other testing options. Most women were tested through Dor Yeshorim at their Jewish high schools between the ages of 17 and 18 years. Men were tested either through Dor Yeshorim or a university-based laboratory after high school, usually while they attended yeshiva. Those who had not yet been tested either had not been presented with the opportunity or planned to wait until they were in a serious relationship. The untested were less likely to participate in arranged marriages, more likely to want to know their test results, and more open to using reproductive technology. Participants had mixed attitudes about whether Gaucher disease ought to be on the Dor Yeshorim Jewish panel. In vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) was the only assisted reproductive technology acceptable to most participants.Conclusions: There is an opportunity to educate Orthodox Ashkenazi young adults about their testing options, about the pros and cons of testing for Gaucher disease, and about the reproductive options for couples who are both carriers of the same genetic disease. Rabbis may be uniquely situated to provide referrals to culturally sensitive genetic counselors and web-based educational materials.