Trial reportJournal of general internal medicine2018
How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.
Trial report in Journal of general internal medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Multi-gene Pharmacogenomic Testing That Includes Decision-Support Tools to Guide Medication Selection for Major Depression: A Health Technology Assessment.Ontario health technology assessment series · 2021Pooled it
- GP perspectives on genomics in primary care: a qualitative study on using polygenic risk scores to evaluate cancer risk.The British journal of general practice : the journal of the Royal College of General Practitioners · 2026Article
- Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process.Journal of community genetics · 2024Article
- Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores.Journal of community genetics · 2023Article
- Re-envisioning community genetics: community empowerment in preventive genomics.Journal of community genetics · 2023Article
- A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.Human genetics · 2022Article
- Challenges and Opportunities in Engaging Primary Care Providers in BRCA Testing: Results from the BFOR Study.Journal of general internal medicine · 2022Observational
- Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.NPJ genomic medicine · 2021Article
- Patient-Reported Outcomes and Experiences with Population Genetic Testing Offered Through a Primary Care Network.Genetic testing and molecular biomarkers · 2021Article
- Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.Journal of personalized medicine · 2020Article
- Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.BMC health services research · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
backgroundGenomics will play an increasingly prominent role in clinical medicine.
objectiveTo describe how primary care physicians (PCPs) discuss and make clinical recommendations about genome sequencing results.
designQualitative analysis.
participantsPCPs 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
resultsFor 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.
conclusionsPCPs 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.