Primary care physician use of patient race and polygenic risk scores in medical decision-making

Kerman, Benjamin J.; Brunette, Charles A.; Harris, Elizabeth J.; Antwi, Ashley A.; Lemke, Amy A.; Vassy, Jason L.

doi:10.1016/j.gim.2023.100800

Cited by 6 publications

(8 citation statements)

References 39 publications

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“…A further 32 citations were excluded after full text screening. An additional five papers were identified using alternative search methods, resulting in a total of 18 papers eligible for inclusion (Leventhal et al 2013 ; Graves et al 2013 ; Nusbaum et al 2013 ; Conran et al 2021 ; Saya et al 2022 ; Saya et al 2020 ; Butrick et al 2014 ; Kirkegaard et al 2018 ; Fredsoe et al 2020a , 2020b ; Green et al 2022 ; Benafif et al 2022 ; Kerman et al 2023 ; Ayoub et al 2023 ; Archer et al 2020 , 2023 ; Myers et al 2015 ; Weinberg et al 2014 ) (Fig. 1 ).…”

Section: Resultsmentioning

confidence: 99%

“…Only four high-income countries were represented: eight USA (Leventhal et al 2013 ; Graves et al 2013 ; Nusbaum et al 2013 ; Butrick et al 2014 ; Conran et al 2021 ; Kerman et al 2023 ; Weinberg et al 2014 ; Myers et al 2015 ), five UK (Archer et al 2020 , 2023 ; Ayoub et al 2023 ; Green et al 2022 ; Benafif et al 2022 ), three Denmark (Fredsoe et al 2020a , 2020b ; Kirkegaard et al 2013 ) and two Australia (Saya et al 2020 , 2022 ). The majority of studies used an observational quantitative design (Graves et al 2013 ; Saya et al 2020 ; Fredsoe et al 2020a , 2020b ; Green et al 2022 ; Benafif et al 2022 ; Ayoub et al 2023 ; Kerman et al 2023 ; Conran et al 2021 ; Weinberg et al 2014 ), four used qualitative methods (Archer et al 2020 , 2023 ; Nusbaum et al 2013 ; Kirkegaard et al 2018 ) and four mixed methods (Leventhal et al 2013 ; Saya et al 2022 ; Butrick et al 2014 ; Myers et al 2015 ). Data were collected using demographic questionnaires, national surveys, baseline questionnaires, focus groups and semi-structured interviews.…”

Section: Resultsmentioning

confidence: 99%

“…Data were collected using demographic questionnaires, national surveys, baseline questionnaires, focus groups and semi-structured interviews. Three studies used case studies and simulated patients for HCP interpretation (Archer et al 2020 , 2023 ; Kerman et al 2023 ).…”

Section: Resultsmentioning

confidence: 99%

“…Four studies explored primary HCP’s attitudes to PGS for cancer risk assessment (Kerman et al 2023 ; Ayoub et al 2023 ; Archer et al 2020 , 2023 ), Table 11 . All three studies which explored PGS in the context of a personalized BC risk assessment, demonstrated that HCPs attitudes were positive towards the concept but a need for education and training in genomics was highlighted (Archer et al 2020 , 2023 ; Ayoub et al 2023 ) .…”

Section: Discussionmentioning

confidence: 99%

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The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

Dannhauser,

Taylor,

Tung

et al. 2024

J Community Genet

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Background Polygenic scores (PGS) have been developed for cancer risk-estimation and show potential as tools to prompt earlier referral for high-risk individuals and aid risk-stratification within cancer screening programmes. This review explores the potential for using PGS to identify individuals at risk of the most common cancers seen in primary care. Methods Two electronic databases were searched up until November 2023 to identify quantitative, qualitative, and mixed methods studies that reported on the acceptability and clinical impact of using PGS to identify individuals at highest risk of breast, prostate, colorectal and lung cancer in primary care. The Mixed Methods Appraisal Tool (MMAT) was used to assess the quality of included studies and a narrative synthesis was used to analyse data. Results A total of 190 papers were identified, 18 of which were eligible for inclusion. A cancer risk-assessment tool incorporating PGS was acceptable to the general practice population and their healthcare providers but major challenges to implementation were identified, including lack of evidence for PGS in non-European ancestry and a need for healthcare provider education in genomic medicine. A PGS cancer risk-assessment had relatively limited impact on psychosocial outcomes and health behaviours. However, for prostate cancer, potential applications for its use in primary care were shown. Conclusions Cancer risk assessment incorporating PGS in primary care is acceptable to patients and healthcare providers but there is a paucity of research exploring clinical impact. Few studies were identified, and more research is required before clinical implementation of PGS can be recommended.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

Dannhauser,

Taylor,

Tung

et al. 2024

J Community Genet

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“…Background, analysis, interpretation, and discussion of the randomized experiment associated with this protocol, involving GRS, clinical decision-making, and patient race, is described in Kerman et al. [1] whereas general perceptions on the benefits, barriers, and utility of GRS is reported in Vassy et al. [2] .…”

Section: Introductionmentioning

confidence: 99%

Data from a national survey of United States primary care physicians on genetic risk scores for common disease prevention

Brunette,

Harris,

Antwi

et al. 2024

Data in Brief

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Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey

et al. 2023

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doi: medRxiv preprint NOTE: This preprint reports new research that has not been certified by peer review and should not be used to guide clinical practice.Background: Clinical implementation of polygenic risk scores (PRS) for precision prevention depends on the utility and barriers primary care physicians (PCPs) perceive to their use. Methods:An online survey asked PCPs in a national database about the clinical utility of PRS they perceived for categories of medical decision-making and perceived benefits of and barriers to that use. Latent class analysis (LCA) was used to identify subgroups of PCPs based on response patterns.Results: Among 367 respondents (email open rate 10.8%; participation rate 96.3%; completion rate 93.1%), mean (SD) age was 54.9 (12.9) years, 137 (37.3%) were female, and mean (SD) time since medical school graduation was 27.2 (13.3) years. Respondents reported greater perceived utility for more clinical action (e.g., earlier or more intensive screening, preventive medications, or lifestyle modification) for patients with high-risk PRS than for delayed or discontinued prevention actions for low-risk patients (p<0.001). Respondents most often chose out-of-pocket costs (48%), lack of clinical guidelines (24%), and patient insurance discrimination concerns (22%) as extreme barriers to PRS implementation. LCA identified 3 subclasses of respondents. Skeptics (n=83, 22.6%) endorsed less agreement with individual clinical utilities, saw patient anxiety and insurance discrimination as significant barriers, and agreed less often that PRS could help patients make better health decisions. Learners (n=134, 36.5%) and enthusiasts (n=150, 40.9%) expressed similar levels of agreement that PRS had utility for preventive actions and that PRS could be useful for patient decision-making. Compared with enthusiasts, however, learners perceived greater barriers to the clinical use of PRS. Conclusion:PCPs generally endorsed using PRS to guide medical decision-making about preventive care, with a preference for more clinical action over less. Barriers identified suggest 2 . CC-BY-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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Primary care physician use of patient race and polygenic risk scores in medical decision-making

Cited by 6 publications

References 39 publications

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review

Data from a national survey of United States primary care physicians on genetic risk scores for common disease prevention

Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey

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