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 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. This project surveyed customers of 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.
The PGEN study examined the following questions: 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?
The PGEN study was funded by an R01 grant from the National Human Genome Research Institute (NHGRI).
Scott Roberts, PhD, Principal Investigator
Mick P. Couper, PhD, Co-Investigator
Mack T. Ruffin IV, MD, MPH, Co-Investigator
Wendy R. Uhlmann, MS, CGC, Co-Investigator
Michele Cornick, PhD, Postdoctoral Fellow
Landry L, Nielson DE, Carere DA Roberts, JS, Green RC, et al. (2017). Racial minority group interest in direct-to-consumer genetic testing: Findings from the PGen Study. Journal of Community Genetics. 8(4), 293-301. PDF.
Gollust SE, Gray SW, Cerere DA, Koenig BA, Lehmann LS, McGuire AL, Sharp RR, Spector-Bagdady K, Wang, N, Green RC, Roberts JS, et al. (2017). Consumer perspectives on access to direct-to-consumer genetic testing: Role of demographic factors and the testing experience. Milbank Quarterly. 95(2), 291-318. PDF.
Koeller DR, Uhlmann WR, Carere DA, Green RC, Roberts JS, et al. (2017). Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study. Journal of Genetic Counseling. PDF.
Nielsen DE, Carere DA, Wang C, Roberts JS, Green RC, et al. (2017). Diet and exercise changes following direct-to-consumer personal genomic testing. BMC Medical Genomics. 10(1), 24. PDF.
Roberts JS, Gornick MC, Carere DA, Uhlmann WR, Ruffin MT, Green RC. (2017). Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results. Public Health Genomics. 20(1), 36-45. PDF.
Carere, DA, VanderWeele T, Vassy JL, van der Wouden C, Roberts JS, Kraft P, Green RC, et al. (2017). Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study. Genetics in Medicine. 19(5), 537-545. PDF.
Krieger JL, Murray F, Roberts JS, Green, RC. (2016). The impact of personal genomics on risk perceptions and medical decision-making. Nature Biotechnology. 34(9), 912-8.
Baptista NM, Christensen KD, Carere DA, Broadley SA, Roberts JS, Green RC, et al. (2016). Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees. Genetics in Medicine. 18(9), 924-32. PDF.
van der Wouden CH, Carere DA, Maitland-van der Zee AH, Ruffin MT, Roberts, JS, Green RC, et al. (2016). Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing. Annals of Internal Medicine. 164(8), 513-22.
Carere DA, VanderWeele T, Moreno TA, Mountain JL, Roberts JS, Kraft P, Green RC, et al. (2015). The impact to direct-to-consumer personal genomic testing on perceived risk of breast, prostate, colorectal, and lung cancer: Findings from the PGen Study. BMC Medical Genomics. 8(1), 63. PDF.
Ostergren JE, Gornick MC, Carere DA, Kalia SS, Uhlmann WR, Ruffin MT, Mountain JL, Green RC, Roberts JS, et al. (2015). How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study. Public Health Genomics. PDF.
Meisel SF, Carere DA, Wardle J, Kalia SS, Moreno TA, Mountain JL, Roberts JS, Green RC, et al. (2015). Explaining, not just predicting, drives interest in personal genomics. Genome Medicine. 7(1), 74. PDF.
Carere DA, Kraft P, Kaphingst KA, Roberts JS, Green RC, et al. (2016). Consumers report lower confidence in their genetics knowledge following direct-to-consumer genetic testing. Genetics in Medicine. 18(1), 65-72. PDF.
Carere, DA, Couper MP, Crawford SD, Kalia SS, Duggan JR, Moreno TA, Mountain JL, Roberts JS, Green RC, et al. (2014). Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers.. Genome Medicine. 6(12), 96. PDF.
Roberts JS, Ostergren J. (2013). Direct-to-consumer genetic testing and personal genomics services: a review of recent empirical studies. Current Genetic Medicine Reports. 1(3), 182-200. PDF.
Lehmann, LS, Kaufman DJ, Sharp RR, Moreno TA, Mountain JL, Roberts JS, Green RC, et al. (2012). Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing. Genetics in Medicine. 14(2), 268-73. PDF.