Cultural and Ethical Issues in Genetic Family Studies

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DESCRIPTION (provided by applicant): Problem: There is a genetic susceptibility for the development of diabetic nephropathy (DN) in patients with a family history of type 2 diabetes mellitus (T2DM). Little is known about subjects' beliefs and attitudes towards genetic diseases (i.e., DN) and participation in genetic family studies (GFS). Understanding cultural and ethical issues associated with GFS will enhance the ascertainment process and establish strategies for genetic counseling of patients and relatives with a family history of T2DM and DN. Specific Aims: We have designed an anthropological study to: 1) determine whether subjects' beliefs about the hereditary aspects of DN influence participation in GFS, 2) explore subjects' opinions and awareness of ethical issues and risks related to their participation, and 3) analyze ethnic differences in attitudes toward participation in GFS. Methods: We will combine qualitative and quantitative methods to determine the generalizability of the qualitative findings and enhance the interpretability of the quantitative data. The study will be conducted in two phases: The Qualitative Phase I (24 months) will be based on an exploratory design using ethnographic methods of open-ended questions, probing, and participant observation. We will recruit subjects from the ongoing Family Investigation of Nephropathy and Diabetes (FIND) study at the University of Texas Health Science Center at San Antonio (UTHSCSA). Semi-structured interviews will be performed with 40 DN patients with a family history of T2DM and 40 of their relatives. An additional 20 DM patients with no family history of T2DM will be included. Most interviews will be conducted at UTHSCSA and last about 60 minutes. They will be tape-recorded, transcribed and content analyzed to identify themes across cases. Based on these themes, we plan to develop a quantitative questionnaire that will first be tested, validated, revised and applied to participants of different ethnic origins enrolled in our Center. In the Quantitative Phase II (36 months), we will mail this questionnaire to a larger population of participants (about 700) of different ethnic origins enrolled in other participating centers of FIND. Data analysis for this Phase will include both univariate and multivariate statistics. The statistical packages SAS and MINITAB will be utilized to perform these analyses. Outcomes: We expect to obtain data on: (1) subjects' beliefs about genetic diseases and participation in GFS. (2) recruiters' perspective on family enrollment. (3) association of participants' responses with demographic characteristics. (4) ethnic differences in attitudes towards participation in GFS.