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Journal of General Internal Medicine

, Volume 33, Issue 6, pp 877–885 | Cite as

How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation

  • Jason L. Vassy
  • J. Kelly Davis
  • Christine Kirby
  • Ian J. Richardson
  • Robert C. Green
  • Amy L. McGuire
  • Peter A. Ubel
Article

Abstract

Background

Genomics will play an increasingly prominent role in clinical medicine.

Objective

To describe how primary care physicians (PCPs) discuss and make clinical recommendations about genome sequencing results.

Design

Qualitative analysis.

Participants

PCPs and their generally healthy patients undergoing genome sequencing.

Approach

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.

Key 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.

Conclusions

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 WORDS

genome sequencing physician communication medical decision-making 

Notes

Contributors

The authors thank Mary Carol Barks, BA, and Sanjay Advani, MA, for assistance in preparing this manuscript.

Prior Presentations

Parts of this work were presented at the American Society for Human Genetics national meetings in 2014 and 2016.

Funders

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.

Supplementary material

11606_2017_4295_MOESM1_ESM.pdf (643 kb)
ESM 1 (PDF 643 kb)

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Copyright information

© Society of General Internal Medicine (outside the USA) 2018

Authors and Affiliations

  • Jason L. Vassy
    • 1
    • 2
    • 3
  • J. Kelly Davis
    • 4
  • Christine Kirby
    • 4
  • Ian J. Richardson
    • 2
  • Robert C. Green
    • 3
    • 5
    • 6
  • Amy L. McGuire
    • 7
  • Peter A. Ubel
    • 4
    • 8
  1. 1.Section of General Internal MedicineVA Boston Healthcare SystemBostonUSA
  2. 2.Division of General Internal Medicine and Primary CareBrigham and Women’s HospitalBostonUSA
  3. 3.Department of MedicineHarvard Medical SchoolBostonUSA
  4. 4.Margolis Center for Health PolicyDuke UniversityDurhamUSA
  5. 5.Division of GeneticsBrigham and Women’s HospitalBostonUSA
  6. 6.Broad Institute of MIT and HarvardCambridgeUSA
  7. 7.Center for Medical Ethics and Health PolicyBaylor College of MedicineHoustonUSA
  8. 8.Fuqua School of Business, Sanford School of Public Policy, School of MedicineDuke UniversityDurhamUSA

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