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

J Gen Intern Med

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.

Year of Publication
J Gen Intern Med
Date Published
2018 06
PubMed ID
PubMed Central ID
Grant list
KL2 TR001100 / TR / NCATS NIH HHS / United States
P60 AR047782 / AR / NIAMS NIH HHS / United States
U01 HG008685 / HG / NHGRI NIH HHS / United States
IK2 CX001262 / CX / CSRD VA / United States
L30 HG008668 / HG / NHGRI NIH HHS / United States
U41 HG006834 / HG / NHGRI NIH HHS / United States
U01 AG024904 / AG / NIA NIH HHS / United States
UL1 TR001102 / TR / NCATS NIH HHS / United States
R01 CA154517 / CA / NCI NIH HHS / United States
U01 HG006500 / HG / NHGRI NIH HHS / United States
R03 HG008809 / HG / NHGRI NIH HHS / United States
U19 HD077671 / HD / NICHD NIH HHS / United States