The Impact of Personal Genomics (PGen) Study

Research Type: 
Personal Genomics

Background

No longer the exclusive domain of specialized academic genetic medicine centers, genetic testing has changed in fundamental ways over the past decade. First, genetic testing capabilities have expanded from tests for single-gene mutations for rare disorders to genome-wide scans for polymorphisms for common complex conditions and risk factors that conceivably affect large populations. Second, genetic testing is of increasing interest to for-profit companies that have begun to provide personalized genetic information to consumers outside of conventional clinical settings. Thus, genetic testing is newly available to and relevant for any individual with access to the Internet, not just patients in specialized genetics clinics or those enrolled in clinical research.

Genetic information is increasingly being utilized as part of commercial efforts, including direct-to-consumer (DTC) genetic testing to provide risk information on common diseases to consumers. In partnership with Robert C. Green, M.D., M.P.H., at Harvard / Brigham & Women’s Hospital, we will survey customers of the two leading DTC genetic test services (23andMe and Pathway Genomics) in the U.S., using independent third party data collection and analysis to provide data on who is ordering these tests and why, and what its benefits and risks may be. This study will produce results that can be translated into recommendations to guide practice and policy in this rapidly emerging area.

Study Aims

The PGen study examines 1) Who is interested in DTC genetic testing and why?; 2)What is the impact of DTC genetic testing, including (a) psychological impact, (b) changes in risk perceptions, and (c) personal utility of information; and 3) What do consumers do with DTC genetic test information?

Funding Source

The PGen study is funded by an R01 grant from the National Human Genome Research Institute (NHGRI)

Key Personnel

J. Scott Roberts, Ph.D., Principal Investigator

Mick P. Couper, Ph.D., Co-Investigator

Mack T. Ruffin IV.,M.D.,M.P.H., Co-Investigator

Wendy Uhlmann, M.S. C.G.C., Co-Investigator

Lan Le, M.P.H., Study Coordinator