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Perelman School of Medicine at the University of Pennsylvania Advanced Search

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Medical Genetics

Early Adopters of Personalized Genomic Risk Information

Barbara Bernhardt, MS, CGC, Genetic Counselor and Clinical Associate Professor of Medicine in Medical Genetics, and colleagues, have received over $600,000 to study public response to personal genomic risk information. The funds created two new jobs and were used to pay a portion of the salaries of five additional employees whose positions were retained. Increasingly, direct-to-consumer testing companies have been offering genome profiling to inform individuals about their risk for dozens of diseases and traits. Such testing is being offered with the assumption that identifying an increased risk could lead to preventive measures to reduce a person's risk for developing disease or to improve disease outcome. Although personalized medicine is gaining clinical and policy attention and appears to be technically feasible, little is known about the public's understanding and perceptions of such care. Penn investigators are collaborating with researchers at the Coriell Institute for Medical Research in Camden, N.J. Coriell is offering personalized genomic risk assessment for a variety of diseases, and collecting data on health outcomes from a group of 10,000 individuals in the Lehigh Valley. Bernhardt's research will involve surveying 1,000 individuals who sign up to participate in the Coriell project to assess their perceptions and misperceptions of the risks, benefits, and limitations of personalized genomic risk assessment. In addition, the investigators will interview a subset of 60 participants 3 to 6 months after they receive their results to assess their understanding of results, reactions to their results, and their recommendations for future offerings of such testing. "We will look at motivations, understanding, and perceived utility of personalized genomic risk assessment, and from this, develop policy recommendations for offering personalized genomic disease risk information in an ethical way that minimizes risks and maximizes benefits of such testing," says Bernhardt.