Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization.

Autor: Lewis ACF; E.J. Safra Center for Ethics, Harvard University, Cambridge, USA. annalewis@fas.harvard.edu.; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA. annalewis@fas.harvard.edu., Perez EF; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Mass General Brigham Personalized Medicine, Boston, MA, USA., Prince AER; College of Law, University of Iowa, Iowa City, IA, USA., Flaxman HR; Weill Cornell Medical College, New York City, NY, USA., Gomez L; Mass General Brigham Personalized Medicine, Boston, MA, USA., Brockman DG; Color Health, Burlingame, CA, USA., Chandler PD; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Kerman BJ; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA., Lebo MS; Mass General Brigham Personalized Medicine, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Smoller JW; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Center for Precision Psychiatry, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weiss ST; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Channing Division of Network Medicine, Boston, MA, USA., Blout Zawatksy CL; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Population Precision Health, Ariadne Labs, Boston, MA, USA.; The MGH Institute of Health Professions, Boston, MA, USA., Meigs JB; Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA., Green RC; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Population Precision Health, Ariadne Labs, Boston, MA, USA.; Mass General Brigham Personalized Medicine, Cambridge, MA, USA., Vassy JL; Harvard Medical School, Boston, MA, USA.; Population Precision Health, Ariadne Labs, Boston, MA, USA.; Veterans Affairs Boston Healthcare System, Boston, MA, USA.; Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital, Boston, MA, USA., Karlson EW; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Mass General Brigham Personalized Medicine, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Jazyk: angličtina
Zdroj: Genome medicine [Genome Med] 2022 Oct 07; Vol. 14 (1), pp. 114. Date of Electronic Publication: 2022 Oct 07.
DOI: 10.1186/s13073-022-01117-8
Abstrakt: Background: Polygenic risk scores (PRS), which offer information about genomic risk for common diseases, have been proposed for clinical implementation. The ways in which PRS information may influence a patient's health trajectory depend on how both the patient and their primary care provider (PCP) interpret and act on PRS information. We aimed to probe patient and PCP responses to PRS clinical reporting choices METHODS: Qualitative semi-structured interviews of both patients (N=25) and PCPs (N=21) exploring responses to mock PRS clinical reports of two different designs: binary and continuous representations of PRS.
Results: Many patients did not understand the numbers representing risk, with high numeracy patients being the exception. However, all the patients still understood a key takeaway that they should ask their PCP about actions to lower their disease risk. PCPs described a diverse range of heuristics they would use to interpret and act on PRS information. Three separate use cases for PRS emerged: to aid in gray-area clinical decision-making, to encourage patients to do what PCPs think patients should be doing anyway (such as exercising regularly), and to identify previously unrecognized high-risk patients. PCPs indicated that receiving "below average risk" information could be both beneficial and potentially harmful, depending on the use case. For "increased risk" patients, PCPs were favorable towards integrating PRS information into their practice, though some would only act in the presence of evidence-based guidelines. PCPs describe the report as more than a way to convey information, viewing it as something to structure the whole interaction with the patient. Both patients and PCPs preferred the continuous over the binary representation of PRS (23/25 and 17/21, respectively). We offer recommendations for the developers of PRS to consider for PRS clinical report design in the light of these patient and PCP viewpoints.
Conclusions: PCPs saw PRS information as a natural extension of their current practice. The most pressing gap for PRS implementation is evidence for clinical utility. Careful clinical report design can help ensure that benefits are realized and harms are minimized.
(© 2022. The Author(s).)
Databáze: MEDLINE
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