Risk Assessment in the Genomic Era: A Qualitative Study of Patients and Providers

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DESCRIPTION (provided by applicant): This one-year mentored training and research project will allow the PI, Dr. Lori Leonard, to acquire training in human genetics and to extend her existing health- and life-course focused research career in new directions. The project includes a well-rounded and well-staged set of training activities. These include shadowing genetic counselors, attending weekly case conferences, participating in major national and regional conferences and educational workshops, attending major policy discussions in Washington, DC, and completing formal coursework in human genetics. It also includes a mentored research project that will be carried out with a highly productive and experienced research group in the Department of Medicine at the Johns Hopkins Medical School. The research project involves conducting a series of pilot interview studies that are embedded in a trial, the Genetic Information Feedback Trial (GIFT). The trial is part of the GeneSTAR (Genetic Study of Atherosclerosis Risk) Research Program and the Center for Health Promotion. The trial looks at how people with a family history of early onset coronary artery disease (CAD) respond to genome wide information on single nucleotide polymorphism (SNP) variants that increase risk for common diseases, including CAD. This type of genetic information is become more widely available through commercial tests marketed in the United States. The widespread availability of this type of genetic information has sparked public debate about whether such information is useful for patients and health care providers. How this information is perceived and used by patients and health care providers remains largely unknown. Participants in GIFT will be given their test results under one of three possible conditions and followed for three months to assess changes in standardized quantitative measures of beliefs about their risk for CAD and type 2 diabetes; preventive practices; and completion of referral to a physician. The proposed pilot studies follow this study in time, allowing us to elaborate on the trial findings with qualitative follow-up interviews with a sub-set of study subjects. The proposed pilot studies also allow us to assess the feasibility of future lines of research through interviews with primary care physicians and with patient-provider dyads. The project is expected to open up new lines of research for Dr. Leonard and assist her in continuing to contribute to the production of knowledge in the basic behavioral and social sciences. PUBLIC HEALTH RELEVANCE: The proposed research project, part of a mentored training program in human genetics, is embedded in one of the first trials to look at how patients and their primary care providers understand and use genome wide information on single nucleotide polymorphism (SNP) variants that increase risk for common diseases. The pilot interview studies will expand quantitative findings the trial and are also designed to assess the feasibility of studies with primary care providers and the salience of studies at the patient-provider interface.