Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study
- 1.3k Downloads
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.
KeywordsDirect-to-consumer DTC Genetic testing Personal genomic testing Health behavior Genetic counseling Personalized medicine Genetic counselors
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.
Compliance with Ethical Standards
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.
No animal studies were carried out by the authors for this article.
- Ashida, S., Goodman, M. S., Stafford, J., Lachance, C., & Kaphingst, K. A. (2012). Perceived familiarity with and importance of family health history among a medically underserved population. Journal of Community Genetics, 3(4), 285–295. doi: 10.1007/s12687-012-0097-x.CrossRefPubMedPubMedCentralGoogle Scholar
- Bloss, C. S., Wineinger, N. E., Darst, B. F., Schork, N. J., & Topol, E. J. (2013). Impact of direct-to-consumer genomic testing at long term follow-up. Journal of Medical Genetics, 50(6), 393–400. doi: 10.1136/jmedgenet-2012-101207.
- Bunnik, E. M., Janssens, A. C. J. W., & Schermer, M. H. N. (2015). Personal utility in genomic testing: Is there such a thing? Journal of Medical Ethics, 41(4), 322–326. doi: 10.1136/medethics-2013-101887.
- Carere, D. A., Couper, M. P., Crawford, S. D., Kalia, S. S., Duggan, J. R., Moreno, T. A., 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. doi: 10.1186/s13073-014-0096-0.CrossRefPubMedPubMedCentralGoogle Scholar
- Carere, D. A., Kraft, P., Kaphingst, K. A., Roberts, J. S., & Green, R. C. (2016). Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing. Genetics in Medicine, 18(1), 65–72. doi: 10.1038/gim.2015.34.
- Dohany, D., Gustafson, S., Ducaine, W., & Zakalik, D. (2012). Psychological distress with direct-toconsumer genetic testing: a case report of an unexpected BRCA positibe test result. Journal of Genetic Counseling, 21(3), 399–401.Google Scholar
- Food & Drug Administration. (2017). FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. Retrieved from https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm.
- Francke, U., Dijamco, C., Kiefer, A. K., Eriksson, N., Moiseff, B., Tung, J. Y., & Mountain, J. L. (2013). Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing. PeerJ, 1, e8. doi: 10.7717/peerj.8.
- Gutierrez, A. (2013). Warning Letter. Retrieved from http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm.
- Hock, K. T., Christensen, K. D., Yashar, B. M., Roberts, J. S., Gollust, S. E., & Uhlmann, W. R. (2011). Direct-to-consumer genetic testing: An assessment of genetic counselors’ knowledge and beliefs. Genetics in Medicine, 13(4), 325–332. doi: 10.1097/GIM.0b013e3182011636.
- Hudson, K., Javitt, G., Burke, W., Byers, P., & ASHG Social Issues Committee. (2007). ASHG Statement on Direct-to-Consumer Genetic Testing in the United States. American Journal of Human Genetics, 81(3), 635–637.Google Scholar
- James, K. M., Cowl, C. T., Tilburt, J. C., Sinicrope, P. S., Robinson, M. E., Frimannsdottir, K. R., et al. (2011). Impact of direct-to-consumer predictive genomic testing on risk perception and worry among patients receiving routine care in a preventive health clinic. Mayo Clinic Proceedings, 86(10), 933–940. doi: 10.4065/mcp.2011.0190.CrossRefPubMedPubMedCentralGoogle Scholar
- Lehmann, L. S., Kaufman, D. J., Sharp, R. R., Moreno, T. A., Mountain, J. L., Roberts, J. S., & Green, R. C. (2012). Navigating a research partnership between academia and industry to assess the impact of personalized genetic testing. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 14(2), 268–273. doi: 10.1038/gim.2011.59.CrossRefGoogle Scholar
- Leighton, J. W., Valverde, K., & Bernhardt, B. A. (2012). The general public’s understanding and perception of direct-to-consumer genetic test results. Public Health Genomics, 15(1), 11–21. doi: 10.1159/000327159.
- NSGC Executive Office. (2015). Direct Access to Genetic Testing. Retrieved from http://nsgc.org/p/bl/et/blogid=47&blogaid=22.
- Ostergren, J. E., Gornick, M. C., Carere, D. A., Kalia, S. S., Uhlmann, W. R., Ruffin, M. T., 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 for the PGen study group. Public Health Genomics, 18(4), 216–224. doi: 10.1159/000431250.CrossRefPubMedPubMedCentralGoogle Scholar
- Powell, K. P., Christianson, C. A., Cogswell, W. A., Dave, G., Verma, A., Eubanks, S., & Henrich, V. C. (2012). Educational needs of primary care physicians regarding direct-to-consumer genetic testing. Journal of Genetic Counseling, 21(3), 469–478. doi: 10.1007/s10897-011-9471-9.CrossRefPubMedGoogle Scholar
- Smerecnik, C. M. R., Mesters, I., De Vries, N. K., & De Vries, H. (2011). Applying a theory-based framework to understand public knowledge of genetic risk factors: A case for the distinction between how-to knowledge and principles knowledge. Public Health Genomics, 14(4–5), 259–270. doi: 10.1159/000294149.CrossRefPubMedGoogle Scholar
- Uhlmann, W. R., & Sharp, R. R. (2012). Genetic testing integration panels (GTIPs): A novel approach for considering integration of direct-to-consumer and other new genetic tests into patient care. Journal of Genetic Counseling, 21(3), 374–381. doi: 10.1007/s10897-011-9468-4.CrossRefPubMedPubMedCentralGoogle Scholar
- van der Wouden, C. H., Carere, D. A., Maitland-van der Zee, A. H., Ruffin, M. T., Roberts, J. S., & Green, R. C. (2016). Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Annals of Internal Medicine. doi: 10.7326/M15-0995.PubMedGoogle Scholar