Polygenic risk scores in healthcare contexts: what’s the scope? An interview study of European healthcare providers and researchers’ perspectives on ethical challenges

Abu-El-Haija A, Reddi HV, Wand H, Rose NC, Mori M, Qian E et al (2023) The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 25(5):100803

Article  PubMed  CAS  Google Scholar 

Andreoli L, Peeters H, Van Steen K, Dierickx K (2024a) Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores. Am J Med Genet A 194(7):e63584

Article  PubMed  Google Scholar 

Andreoli L, Peeters H, Van Steen K, Dierickx K (2024b) Polygenic risk scores in the clinic: a systematic review of stakeholders’ perspectives, attitudes, and experiences. Eur J Hum Genet 33(3):266–280

Article  PubMed  Google Scholar 

Ayoub A, McHugh J, Hayward J, Rafi I, Qureshi N (2022) Polygenic risk scores: improving the prediction of future disease or added complexity? Br J Gen Pract 72(721):396–398

Article  PubMed  PubMed Central  Google Scholar 

Ayoub A, Lapointe J, Nabi H, Pashayan N (2023) Risk-stratified breast cancer screening incorporating a polygenic risk score: a survey of UK general practitioners’ knowledge and attitudes. Genes 14(3):732

Article  PubMed  PubMed Central  CAS  Google Scholar 

Braun V, Clarke V (2006) Using thematic analysis in psychology. Qual Res Psychol 3(2):77–101

Article  Google Scholar 

Braun V, Clarke V (2019) Reflecting on reflexive thematic analysis. Qual Res Sport Exerc Health 11(4):589–597

Article  Google Scholar 

Burke W, Zimmern RL (2004) Ensuring the appropriate use of genetic tests. Nat Rev Genet 5(12):955–959

Article  PubMed  CAS  Google Scholar 

Burke W, Zimmern RL, Kroese M (2007) Defining purpose: a key step in genetic test evaluation. Genet Med 9(10):675–681

Article  PubMed  Google Scholar 

Can.Heal [Internet]. [cited 2025 Apr 23]. Can.Heal | Building the EU genomics platform. Available from: https://canheal.eu/

Chapman CR (2023) Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores. J Community Genet 14(5):441–452

Article  PubMed  Google Scholar 

Fahed AC, Natarajan P (2023) Clinical applications of polygenic risk score for coronary artery disease through the life course. Atherosclerosis 386:117356

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hayat M, Chen WC, Babb de Villiers C, Hyuck Lee S, Curtis C, Newton R et al (2025) Genome-wide association study identifies common variants associated with breast cancer in South African Black women. Nat Commun 16(1):3542

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kamp M, Pain O, May A, Lewis CM, Ramsay M (2022) Clinicians’ perceptions towards precision medicine tools for cardiovascular disease risk stratification in South Africa. J Pers Med 12(9):1360

Article  PubMed  PubMed Central  Google Scholar 

Lapointe J, Buron AC, Mbuya-Bienge C, Dorval M, Pashayan N, Brooks JD et al (2022) Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals. Genet Med 24(11):2380–2388

Article  PubMed  CAS  Google Scholar 

Lewis CM, Vassos E (2020) Polygenic risk scores: from research tools to clinical instruments. Genome Med 12(1):44

Article  PubMed  PubMed Central  Google Scholar 

Lewis CM, Vassos E (2022) Polygenic scores in psychiatry: on the road from discovery to implementation. Am J Psychiatry. https://doi.org/10.1176/appi.ajp.20220795

Article  PubMed  PubMed Central  Google Scholar 

Liou L, García-González J, Wu HM, Wang Z, Hoggart CJ, Kontorovich AR et al (2025) Clinical and genomic prediction of coronary artery disease subtypes. Arterioscler Thromb Vasc Biol 45(1):90–103

Article  PubMed  Google Scholar 

Malterud K, Siersma VD, Guassora AD (2016) Sample Size in Qualitative Interview Studies: Guided by Information Power. Qual Health Res 26(13):1753–1760

Article  PubMed  Google Scholar 

Moorthy T, Nguyen H, Chen Y, Austin J, Smoller JW, Hercher L et al (2023) How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia? Am J Med Genet B Neuropsychiatr Genet 192(7–8):161–170

Article  PubMed  PubMed Central  Google Scholar 

National Academies of Sciences E, Division H and M, Services B on HC, Populations B on the H of S, Testing C on the EB for G. Genetic Test Assessment (2017) In: An Evidence Framework for Genetic Testing [Internet]. National Academies Press (US); [cited 2025 May 2]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK425803/

Our Future Health [Internet]. [cited 2025 Apr 23]. Genomics plc to generate polygenic risk scores for Our Future Health. Available from: https://ourfuturehealth.org.uk/news/genomics-plc-to-generate-polygenic-risk-scores-for-our-future-health/

Padrik P, Tõnisson N, Hovda T, Sahlberg KK, Hovig E, Costa L et al (2025) Guidance for the clinical use of the breast cancer polygenic risk scores. Cancers 17(7):1056

Article  PubMed  PubMed Central  CAS  Google Scholar 

Pain O, Gillett AC, Austin JC, Folkersen L, Lewis CM (2022) A tool for translating polygenic scores onto the absolute scale using summary statistics. Eur J Hum Genet 30(3):339–348

Article  PubMed  PubMed Central  Google Scholar 

Palinkas LA, Horwitz SM, Green CA, Wisdom JP, Duan N, Hoagwood K (2015) Purposeful sampling for qualitative data collection and analysis in mixed method implementation research. Adm Policy Ment Health Ment Health Serv Res 42(5):533–544

Article  Google Scholar 

Parker C, Scott S, Geddes A. Snowball Sampling [Internet]. SAGE Publications Ltd; 2019 [cited 2025 Apr 11]. Available from: https://methods.sagepub.com/foundations/snowball-sampling

Pastorino R, Pezzullo AM, Agodi A, de Waure C, Mazzucco W, Russo L et al (2024) Efficacy of polygenic risk scores and digital technologies for INNOvative personalized cardiovascular disease PREVention in high-risk adults: protocol of a randomized controlled trial. Front Public Health 12:1335894

Article  PubMed  PubMed Central  Google Scholar 

Perrott SL, Kar SP (2024) Polygenic risk scores for genomics and population screening. Lancet 404(10456):935–936

Article  PubMed  CAS  Google Scholar 

Polygenic scores and clinical utility [Internet]. PHG Foundation. [cited 2025 Apr 3]. Available from: https://www.phgfoundation.org/publications/reports/polygenic-scores-and-clinical-utility/

Pretorius L (2024) Demystifying research paradigms: navigating ontology, epistemology, and axiology in research. Qual Rep 29(10):2698–2715

Google Scholar 

Purvis R, Forrest LE, Young MA, Limb S, James P, Taylor N (2025) Defining next steps in the clinical implementation of polygenic scores: A landscape analysis of professional groups’ perspectives. Genet Med 18:101414

Article  Google Scholar 

Putt S, Yanes T, Meiser B, Kaur R, Fullerton JM, Barlow-Stewart K et al (2020) Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder. J Affect Disord 15(265):342–350

Article  Google Scholar 

Sample Size in Qualitative Interview Studies [Internet]. [cited 2025 Mar 13]. Available from: https://journals.sagepub.com/doi/epub/https://doi.org/10.1177/1049732315617444

Slunecka JL, van der Zee MD, Beck JJ, Johnson BN, Finnicum CT, Pool R et al (2021) Implementation and implications for polygenic risk scores in healthcare. Hum Genomics. 15(1):46

Article  PubMed  PubMed Central  Google Scholar 

Smit AK, Sharman AR, Espinoza D, Wallingford C, Young MA, Dunlop K et al (2021) Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: a cross-sectional survey of health professionals. Clin Genet 100(4):430–439

Article  PubMed  CAS  Google Scholar 

Sud A, Horton RH, Hingorani AD, Tzoulaki I, Turnbull C, Houlston RS, et al (2023) Realistic expectations are key to realising the benefits of polygenic scores. Mar 1 [cited 2025 Apr 23]; Available from: https://www.bmj.com/content/380/bmj-2022-073149

The project [Internet]. MyPeBS. [cited 2025 Apr 23]. Available from: https://www.mypebs.eu/the-project/

Turnbull C, Firth HV, Wilkie AOM, Newman W, Raymond FL, Tomlinson I et al (2024) Population screening requires robust evidence—genomics is no exception. Lancet 403(10426):583–586

Article  PubMed  CAS  Google Scholar 

van der Schaar J, van der Lee SJ, Asscher ECA, Pijnenburg YAL, de Geus CM, Bredenoord AL et al (2025) Deciding on genetic testing for familial dementia: Perspectives of patients and families. Alzheimers Dement 21(4):e70140

Article  PubMed 

Comments (0)

No login
gif