How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation
Genomics will play an increasingly prominent role in clinical medicine.
To describe how primary care physicians (PCPs) discuss and make clinical recommendations about genome sequencing results.
PCPs and their generally healthy patients undergoing genome sequencing.
Patients received clinical genome reports that included four categories of results: monogenic disease risk variants (if present), carrier status, five pharmacogenetics results, and polygenic risk estimates for eight cardiometabolic traits. Patients’ office visits with their PCPs were audio-recorded, and summative content analysis was used to describe how PCPs discussed genomic results.
For each genomic result discussed in 48 PCP–patient visits, we identified a “take-home” message (recommendation), categorized as continuing current management, further treatment, further evaluation, behavior change, remembering for future care, or sharing with family members. We analyzed how PCPs came to each recommendation by identifying 1) how they described the risk or importance of the given result and 2) the rationale they gave for translating that risk into a specific recommendation. Quantitative analysis showed that continuing current management was the most commonly coded recommendation across results overall (492/749, 66%) and for each individual result type except monogenic disease risk results. Pharmacogenetics was the most common result type to prompt a recommendation to remember for future care (94/119, 79%); carrier status was the most common type prompting a recommendation to share with family members (45/54, 83%); and polygenic results were the most common type prompting a behavior change recommendation (55/58, 95%). One-fifth of recommendation codes associated with monogenic results were for further evaluation (6/24, 25%). Rationales for these recommendations included patient context, family context, and scientific/clinical limitations of sequencing.
PCPs distinguish substantive differences among categories of genome sequencing results and use clinical judgment to justify continuing current management in generally healthy patients with genomic results.
KEY WORDSgenome sequencing physician communication medical decision-making
The authors thank Mary Carol Barks, BA, and Sanjay Advani, MA, for assistance in preparing this manuscript.
Parts of this work were presented at the American Society for Human Genetics national meetings in 2014 and 2016.
The MedSeq Project is funded by grant U01-HG006500 from the National Human Genome Research Institute of the National Institutes of Health (NIH). Dr. Vassy is an employee of the VA Boston Healthcare System and received support from NIH grant KL2-TR001100 and Career Development Award IK2-CX001262 from the VA Clinical Sciences Research and Development Service. Dr. Green is also supported by NIH U19-HD077671, U01-HG008685, R03-HG008809, UG3-OD023156, U41-HG006834, U01-AG24904, R01-CA154517, P60-AR047782, R01-AG047866, as well as funding from the Broad Institute and the Department of Defense. This work was conducted with support from Harvard Catalyst | The Harvard Clinical and Translational Science Center (National Center for Research Resources and National Center for Advancing Translational Sciences, NIH grant UL1-TR001102), and financial contributions from Harvard University and its affiliated academic health care centers. The contents do not necessarily represent the views of the U.S. Department of Veterans Affairs (VA), the U.S. government, Harvard Catalyst, Harvard University and its affiliated academic healthcare centers, or the National Institutes of Health.
Compliance with Ethical Standards
Conflict of Interest
Dr. Ubel is a consultant for Humana. Dr. Green receives compensation for speaking or consultation from AIA, GenePeeks, Helix, Illumina, Ohana, Prudential, and Veritas, and is co-founder, advisor, and equity holder in Genome Medical, Inc. The other authors declare that they do not have a conflict of interest.
- 7.Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015;17(6):505–7.Google Scholar
- 10.Linderman MD, Nielsen DE, Green RC. Personal genome sequencing in ostensibly healthy individuals and the peopleSeq consortium. J Pers Med. 2016;6(2):14.Google Scholar
- 12.Precision Medicine Initiative Working Group. The Precision Medicine Initiative Cohort Program – Building a Research Foundation for 21st Century Medicine. 2015. http://www.nih.gov/sites/default/files/research-training/initiatives/pmi/pmi-working-group-report-20150917-2.pdf. Accessed December 13, 2017.
- 13.Carey DJ, Fetterolf SN, Davis FD, et al. The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. Genet. Med. 2016;18(9):906–13.Google Scholar
- 15.Green RC, Goddard KA, Jarvik GP, et al. Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine. Am. J. Hum. Genet. 2016.Google Scholar
- 21.Dobson A, El-Gamil A, Pal S, Heath S, DaVanzo JE. Projecting the Supply and Demand for Certified Genetic Counselors: A Workforce Study. Vienna, VA: Dobson DaVanzo & Associates, September 7, 2016.Google Scholar
- 22.Zhang H, Yu J, Ming Q, Bao L, Wu B-L, Li P. On the globalization and standardization of medical genetics and genomics as clinical and laboratory specialties. N Am J Med Sci (Boston). 2014;7(4):194–8.Google Scholar
- 28.Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.CrossRefPubMedPubMedCentralGoogle Scholar
- 29.Nambot S, Thevenon J, Kuentz P, et al. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med. 2017 Nov 2. https://doi.org/10.1038/gim.2017.162.
- 36.United States Surgeon General. My Family Health Portrait: A Tool from the Surgeon General. 2009. https://familyhistory.hhs.gov/FHH/html/index.html. Accessed December 13, 2017.
- 38.Carroll JC, Makuwaza T, Manca DP, et al. Primary care providers’ experiences with and perceptions of personalized genomic medicine. Can Fam Phys. 2016;62(10):e626-e35.Google Scholar
- 50.NHS Health Education England. Introducing Health Education England’s Genomics Education Programme. https://www.genomicseducation.hee.nhs.uk/images/publications/NHS_Expo_GEP_Leaflet_final.pdf. Accessed December 13, 2017.