Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing

Cathelijne H. Van Der Wouden, Deanna Alexis Carere, Anke H. Maitland-Van Der Zee, Mac K T Ruffin, J. Scott Roberts, Robert C. Green, Joel B. Krier, Margaret H. Helm, Lisa S. Lehmann, Peter Kraft, Lan Q. Le, Jenny Ostergren, Wendy R. Uhlmann, Mick P. Couper, Joanna L. Mountain, Amy K. Kiefer, Glenn D. Braunstein, Scott D. Crawford, L. Adrienne Cupples, Clara A. ChenCatharine Wang, Stacy W. Gray, Barbara A. Koenig, Kimberly Kaphingst, Sarah Gollust

Research output: Contribution to journalArticlepeer-review

77 Scopus citations


Background: Direct-to-consumer (DTC) personal genomic testing (PGT) allows individuals to learn about their genetic makeup without going through a physician, but some consumers share their results with their primary care provider (PCP). Objective: To describe the characteristics and perceptions of DTC PGT consumers who discuss their results with their PCP. Design: Longitudinal, prospective cohort study. Setting: Online survey before and 6 months after results. Participants: DTC PGT consumers. Measurements: Consumer satisfaction with the DTC PGT experience; whether and, if so, how many results could be used to improve health; how many results were not understood; and beliefs about the PCP's understanding of genetics. Participants were asked with whom they had discussed their results. Genetic reports were linked to survey responses. Results: Among 1026 respondents, 63% planned to share their results with a PCP. At 6-month follow-up, 27% reported having done so, and 8% reported sharing with another health care provider only. Common reasons for not sharing results with a health care provider were that the results were not important enough (40%) or that the participant did not have time to do so (37%). Among participants who discussed results with their PCP, 35% were very satisfied with the encounter, and 18% were not at all satisfied. Frequently identified themes in participant descriptions of these encounters were actionability of the results or use in care (32%), PCP engagement or interest (25%), and lack of PCP engagement or interest (22%). Limitation: Participants may not be representative of all DTC PGT consumers. Conclusion: A comprehensive picture of DTC PGT consumers who shared their results with a health care provider is presented. The proportion that shares results is expected to increase with time after testing as consumers find opportunities for discussion at later appointments or if results become relevant as medical needs evolve.

Original languageEnglish (US)
Pages (from-to)513-522
Number of pages10
JournalAnnals of internal medicine
Issue number8
StatePublished - Apr 19 2016

Bibliographical note

Funding Information:
By the National Human Genomic Research Institute, National Institutes of Health (grant R01-HG005092). Ms. van der Wouden was supported by the K.F. Hein Fonds, De Stichting Jo Kolk Studiefonds Voor Vrouwen, and De Koninklijke Nederlandse Maatschappij Pharmacie Stipendiafonds. Dr. Carere was supported by a Canadian Institutes of Health Research Doctoral Foreign Study Award. Dr. Green was also supported by additional grants from the National Institutes of Health (grants U01-HG006500, U19-HD077671, and R01-HG002213).

Publisher Copyright:
© 2016 American College of Physicians.


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