The Impact of Personal Genomics (PGen) Study (HG005092)
Principal Investigators: Robert C. Green and Scott Roberts
The rapid identification of genetic risk factors for common, complex diseases poses great opportunities and challenges for public health. Genetic information is increasingly being utilized as part of commercial efforts, including personal genomic testing, to provide consumers with genetic risk information related to common diseases. Few empirical data have been gathered to understand the characteristics of consumers, the psychological, behavioral, and health impact, and the ethical, legal, and social issues associated with personal genomic testing services.
In the NIH-funded Impact of Personal Genomics (PGen) Study, we surveyed consumers of two U.S. companies that provide personal genetic testing—23andMe and Pathway Genomics—to determine consumers’ reactions to genetic risk information for common diseases of interest, including heart disease, diabetes, Alzheimer’s disease, arthritis, and breast, colon, lung, and prostate cancers. This study utilizes third-party data collection and analysis procedures to enable an independent consideration of the benefits and risks of personal genomic testing. With participants’ permission, 23andMe and Pathway Genomics also provided researchers with individual-level genetic risk information, which was subsequently linked to participants’ longitudinal survey responses. A total of 1,648 participants provided survey data at baseline, of which 1,489 were eligible for follow-up. Of these, survey data was collected from 1,046 participants at 2-week follow-up, and 1,042 participants at 6-month follow-up. Over 900 participants completed all 3 surveys, and 1,155 participants completed at least one follow-up survey, resulting in a large and diverse cohort for longitudinal investigations into the impact of personal genomic testing.
To implement this research, we have assembled an interdisciplinary team of experts with backgrounds in medicine, genetic testing policy and practice, health communication, genetic counseling, health psychology, health law, bioethics, and web survey design. Our aims are as follows: 1) to describe who seeks personal genomic testing and why, by collecting information on demographics, motivations for seeking testing, and understanding of genetics; 2) to describe the impact of personal genomic testing, including psychological impact, risk perceptions and comprehension, and personal utility of services; and 3) to assess what consumers do with their genetic information in the domains of health behaviors, insurance changes, information seeking, and communication with family and health care providers. This study will produce results that can be translated into recommendations to guide practice and policy in this rapidly emerging area.
Please direct any further inquiries regarding the Impact of Personal Genomics (PGen) Study to Sheila Sutti.