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Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study

  • Original Research
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Journal of Genetic Counseling

Abstract

Direct-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available. Compared to non-seekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1–13.8), feeling motivated to pursue DTC-PGT for health reasons (OR = 4.3, CI = 1.8–10.1), fair or poor self-reported health (OR = 3.1, CI = 1.1–8.3), and self-reported uncertainty about the results (OR = 1.8, CI = 1.1–2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTC-PGT results.

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Acknowledgements

The Impact of Personal Genomics (PGen) Study was funded by a grant from the National Institutes of Health (NIH), National Human Genomic Research Institute (NHGRI) (R01-HG005092). DRK was supported by the Jane Engelberg Memorial Fellowship from the National Society of Genetic Counselors. DAC is supported by a Michael G. DeGroote Postdoctoral Fellowship from McMaster University and a Canadian Institutes of Health Research Postdoctoral Fellowship. Nonauthor members of the PGen Study team include the following: Sarah Kalia, Kurt Christensen, Harvard Medical School and Brigham and Women’s Hospital; Mick Couper, Brent Doil, Michele Gornick, Lan Le, Jenny Ostergren, University of Michigan School of Public Health; Joanna Mountain, 23andMe; Glenn Braunstein, Pathway Genomics; Scott Crawford, Sound Rocket; Adrienne Cupples, Clara Chen, Catharine Wang, Boston University; Sarah Gollust, University of Minnesota; Stacy Gray, City of Hope Comprehensive Cancer Center; Kimberly Kaphingst, University of Utah; Barbara Koenig, University of California-San Francisco; Lisa Lehmann, US Department of Veterans Affairs; and Richard Sharp, Mayo Clinic. The authors also wish to acknowledge Margaret Helm, Caroline Weipert, and Erica Schonman for their assistance.

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Correspondence to J Scott Roberts.

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Conflict of Interest

Diane R Koeller, Wendy R Uhlmann, Deanna Alexis Carere, J Scott Roberts and the PGen Study Group declare that they have no conflict of interest. Robert C Green receives compensation for speaking or consultation from AIA, GenePeeks, Helix, Illumina, Prudential and Veritas, and is co-founder and advisor to Genome Medical, Inc.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Koeller, D.R., Uhlmann, W.R., Carere, D.A. et al. Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study. J Genet Counsel 26, 1270–1279 (2017). https://doi.org/10.1007/s10897-017-0106-7

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