Whole genome profiling involves the analysis of thousands of single nucleotide polymorphisms linked to common diseases such as heart disease and cancer to generate a personal genomic risk profile. This service can be purchased directly from several companies without physician authorization or referral and test results are accessible online. Online communication presents a new model to empower users with direct access to personal health information. With its broad range of risk information, genomic profiling holds the promise to prevent disease and promote positive health behaviors leading to significant public health impact. The complexity of information, however, may pose substantial challenges to user comprehension as most Americans rank average to below average for health literacy. As a result, the value of genomic risk information to promote positive health behaviors may go unrealized. A primary source of health information for patients is health professionals, and thus, the impact of not having professionals involved in the delivery and interpretation of genomic risk information warrants exploration. Likewise, although online communication may serve as an effective approach to increase access to genomic risk information, research is needed to assess comprehension, preferences, and need for additional information or counseling resources. This application aims to explore the implications of health and genetic literacy for genomic medicine in regard to genomic profiling and the manner in which risk results are delivered. We propose to conduct a comparative study of communication methods of genomic risk information for Type 2 diabetes. Subjects will be randomized to receive their genomic risk results via an online report or one-on-one session with a genetic counselor. All subjects will complete a series of pre-and post-test surveys to investigate the relationships between health and genetic literacy, comprehension of genomic risk information, and intended or reported health behavior change as well as impact of delivery method for Type 2 diabetes. As one of the first of its kind, this study will also provide valuable data to inform the design of future studies related to genomic risk information. These data will be critical to advancing our understanding of comprehension and utility of genomic risk information, identifying informational needs and enhancing effective risk communication to reduce misinterpretation and encourage positive health behavior change.

Public Health Relevance

Genomic profiling has the potential to improve disease prevention and promote positive health behaviors and thus, holds significant public health impact. The results of this study will be critical to advancing our understanding of the primary factors influencing comprehension and utility of genomic risk information, to identify informational needs to reduce misinterpretation and encourage positive health behavior change and to enhance effective risk communication strategies.

National Institute of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Exploratory/Developmental Grants (R21)
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Special Emphasis Panel (ZRG1-RPHB-B (50))
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Kaufmann, Peter G
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Duke University
Schools of Medicine
United States
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Mills, Rachel; Powell, Jill; Barry, William et al. (2015) Information-seeking and sharing behavior following genomic testing for diabetes risk. J Genet Couns 24:58-66
Mills, Rachel; Barry, William; Haga, Susanne B (2014) Public trust in genomic risk assessment for type 2 diabetes mellitus. J Genet Couns 23:401-8
Haga, S B; Barry, W T; Mills, R et al. (2014) Impact of delivery models on understanding genomic risk for type 2 diabetes. Public Health Genomics 17:95-104
Mills, Rachel; Haga, Susanne B (2014) Genomic counseling: next generation counseling. J Genet Couns 23:689-92
Haga, Susanne B; Barry, William T; Mills, Rachel et al. (2013) Public knowledge of and attitudes toward genetics and genetic testing. Genet Test Mol Biomarkers 17:327-35