Cathelijne H. van der Wouden, BSc; Deanna Alexis Carere, ScD, CGC; Anke H. Maitland-van der Zee, PharmD, PhD; Mack T. Ruffin, IV, MD, MPH; J. Scott Roberts, PhD; Robert C. Green, MD, MPH; for the Impact of Personal Genomics Study Group† (*)
Acknowledgment: The authors thank Margaret Helm (PGen Study project manager), Clara Chen (PGen Study data manager), and Dr. Adrienne Cupples (PGen Study statistical consultant) for their logistic support and intellectual contributions.
Grant Support: 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).
Disclosures: Dr. Maitland-van der Zee reports grants from GlaxoSmithKline, Prediction Adverse Drug Reactions Project, and European—Pharmacogenomics of Anticoagulant Therapy outside the submitted work. Dr. Roberts reports grants from the National Institutes of Health and nonfinancial support from 23andMe and Pathway Genomics during the conduct of the study. Dr. Green reports grants from the National Institutes of Health during the conduct of the study; personal fees from Illumina, Invitae, Prudential, AIA, Helix, and Bina outside the submitted work; and grants from the Brin Wojcicki Foundation outside the submitted work. Authors not named here have disclosed no conflicts of interest. Forms can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M15-0995.
Editors' Disclosures: Christine Laine, MD, MPH, Editor in Chief, reports that she has no financial relationships or interests to disclose. Darren B. Taichman, MD, PhD, Executive Deputy Editor, reports that he has no financial relationships or interests to disclose. Cynthia D. Mulrow, MD, MSc, Senior Deputy Editor, reports that she has no relationships or interests to disclose. Deborah Cotton, MD, MPH, Deputy Editor, reports that she has no financial relationships or interest to disclose. Jaya K. Rao, MD, MHS, Deputy Editor, reports that she has stock holdings/options in Eli Lilly and Pfizer. Sankey V. Williams, MD, Deputy Editor, reports that he has no financial relationships or interests to disclose. Catharine B. Stack, PhD, MS, Deputy Editor for Statistics, reports that she has stock holdings in Pfizer.
Reproducible Research Statement:Study protocol, statistical code and data set: Available from Dr. Green (e-mail, firstname.lastname@example.org).
Requests for Single Reprints: Robert C. Green, MD, MPH, Genomes2People Research Program, Brigham and Women's Hospital, EC Alumnae Building, Suite 301, 41 Avenue Louis Pasteur, Boston, MA 02115; e-mail, email@example.com.
Current Author Addresses: Ms. van der Wouden: Utrecht University, Faculty of Science, PO Box 80082, 3508 TB Utrecht, the Netherlands.
Dr. Carere: Genetic and Molecular Epidemiology Laboratory, David Braley Cardiac, Vascular and Stroke Research Institute, 237 Barton Street East, Hamilton, Ontario L8L 2X2, Canada.
Dr. Maitland-van der Zee: Faculteit Farmaceutische Wetenschappen, Universiteitsweg 99, 3584 CG Utrecht, the Netherlands.
Dr. Ruffin: Department of Family Medicine, University of Michigan Health System, 1018 Fuller Street, Ann Arbor, MI 48104-1213.
Dr. Roberts: University of Michigan School of Public Health, School of Public Health I Building, Room 2834, 109 South Observatory, Ann Arbor, MI 48109.
Dr. Green: Genomes2People Research Program, Brigham and Women's Hospital, EC Alumnae Building, Suite 301, 41 Avenue Louis Pasteur, Boston, MA 02115.
Author Contributions: Conception and design: C.H. van der Wouden, D.A. Carere, M.T. Ruffin, J.S. Roberts, R.C. Green.
Analysis and interpretation of the data: C.H. van der Wouden, D.A. Carere, A.H. Maitland-van der Zee, M.T. Ruffin.
Drafting of the article: C.H. van der Wouden, D.A. Carere, M.T. Ruffin, R.C. Green.
Critical revision of the article for important intellectual content: C.H. van der Wouden, D.A. Carere, A.H. Maitland-van der Zee, M.T. Ruffin, J.S. Roberts, R.C. Green.
Final approval of the article: C.H. van der Wouden, D.A. Carere, A.H. Maitland-van der Zee, M.T. Ruffin, J.S. Roberts, R.C. Green.
Statistical expertise: D.A. Carere.
Obtaining of funding: J.S. Roberts, R.C. Green.
Administrative, technical, or logistic support: C.H. van der Wouden, J.S. Roberts, R.C. Green.
Collection and assembly of data: C.H. van der Wouden, J.S. Roberts.
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).
To describe the characteristics and perceptions of DTC PGT consumers who discuss their results with their PCP.
Longitudinal, prospective cohort study.
Online survey before and 6 months after results.
DTC PGT consumers.
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.
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%).
Participants may not be representative of all DTC PGT consumers.
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.
National Institutes of Health.
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van der Wouden CH, Carere DA, Maitland-van der Zee AH, Ruffin MT, Roberts JS, Green RC, et al. Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing. Ann Intern Med. 2016;164:513-522. doi: 10.7326/M15-0995
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Published: Ann Intern Med. 2016;164(8):513-522.
Published at www.annals.org on 1 March 2016
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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