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
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
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
Braun V, Clarke V (2019) Reflecting on reflexive thematic analysis. Qual Res Sport Exerc Health 11(4):589–597
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
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
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
Malterud K, Siersma VD, Guassora AD (2016) Sample Size in Qualitative Interview Studies: Guided by Information Power. Qual Health Res 26(13):1753–1760
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
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
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
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
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
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