Polygenic risk scores in the clinic: a systematic review of stakeholders’ perspectives, attitudes, and experiences
Truong B, Hull LE, Ruan Y, Huang QQ, Hornsby W, Martin H, et al. Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases. medRxiv. 2023;2023.02.21.23286110.
Purcell SM, Wray NR, Stone JL, Visscher PM, O’Donovan MC, Sullivan PF, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460:748–52.
Google Scholar
Uffelmann E, Huang QQ, Munung NS, de Vries J, Okada Y, Martin AR, et al. Genome-wide association studies. Nat Rev Methods Primer [Internet]. 2021;1. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85130483314&doi=10.1038%2fs43586-021-00056-9&partnerID=40&md5=76ec5878ffa006b27b2493ec9b01c27f.
Cleynen I, Halfvarsson J. How to approach understanding complex trait genetics – inflammatory bowel disease as a model complex trait. U Eur Gastroenterol J. 2019;7:1426–30.
Google Scholar
Lilyquist J, Ruddy KJ, Vachon CM, Couch FJ. Common genetic variation and breast cancer risk – past, present, and future. Cancer Epidemiol Biomark Prev Publ Am Assoc Cancer Res Cosponsored Am Soc Prev Oncol. 2018;27:380–94.
Google Scholar
Slunecka JL, van der Zee MD, Beck JJ, Johnson BN, Finnicum CT, Pool R, et al. Implementation and implications for polygenic risk scores in healthcare. Hum Genomics. 2021;15:46.
Google Scholar
Fritzsche MC, Akyüz K, Cano Abadía M, McLennan S, Marttinen P, Mayrhofer MTH, et al. Ethical layering in AI-driven polygenic risk scores—New complexities, new challenges. Front Genet [Internet]. 2023 [cited 2023 Aug 15];14. Available from: https://www.frontiersin.org/articles/10.3389/fgene.2023.1098439.
Choi SW, Mak TSH, O’Reilly PF. A guide to performing polygenic risk score analyses. Nat Protoc. 2020;15:2759–72.
Google Scholar
Mabey B, Hughes E, Kucera M, Simmons T, Hullinger B, Pederson HJ, et al. Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors. Genet Med. 2024;26:101128.
WISDOM Study [Internet]. [cited 2024 Jul 2]. The WISDOM Study – Join The Movement. Available from: https://www.thewisdomstudy.org/.
Electronic Medical Records and Genomics (eMERGE) Network [Internet]. [cited 2024 Jul 2]. Available from: https://www.cgm.northwestern.edu/research/emerge-network/index.html.
Our Future Health supports Genome UK Implementation Plan for England – Our Future Health [Internet]. [cited 2024 Jul 2]. Available from: https://ourfuturehealth.org.uk/news/our-future-health-supports-genome-uk-implementation-plan-for-england/.
Andreoli L, Peeters H, Van Steen K, Dierickx K. 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. 2024;194:e63584.
Eeltink E, van der Horst MZ, Zinkstok JR, Aalfs CM, Luykx JJ. Polygenic risk scores for genetic counseling in psychiatry: lessons learned from other fields of medicine. Neurosci Biobehav Rev. 2021;121:119–27.
Google Scholar
Knoppers BM, Bernier A, Granados Moreno P, Pashayan N. Of screening, stratification, and scores. J Pers Med. 2021;11:736.
Google Scholar
Sud A, Horton RH, Hingorani AD, Tzoulaki I, Turnbull C, Houlston RS, et al. Realistic expectations are key to realising the benefits of polygenic scores. BMJ. 2023;380:e073149.
Google Scholar
Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol. 2006;3:77–101.
Google Scholar
Martin A, Kanai M, Kamatani Y, Okada Y, Neale B, Daly M. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019;51:584–91.
Google Scholar
Lewis ACF, Green RC. Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues. Genome Med. 2021;13:14.
Google Scholar
Abu-El-Haija A, Reddi HV, Wand H, Rose NC, Mori M, Qian E, et al. The clinical application of polygenic risk scores: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25:100803.
Google Scholar
Young MA, Yanes T, Cust AE, Dunlop K, Limb S, Newson AJ, et al. Human genetics society of Australasia position statement: use of polygenic scores in clinical practice and population health. Twin Res Hum Genet. 2023;26:40–8.
Google Scholar
O’Sullivan JW, Raghavan S, Marquez-Luna C, Luzum JA, Damrauer SM, Ashley EA, et al. Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association. Circulation. 2022;146:E93–118.
Google Scholar
Group BMJP. Accountability for reasonableness: establishing a fair process for priority setting is easier than agreeing on principles. BMJ. 2000;321:1300–1. Nov 25
Google Scholar
Stern C, Lizarondo L, Carrier J, Godfrey C, Rieger K, Salmond S, et al. Methodological guidance for the conduct of mixed methods systematic reviews. JBI Evid Synth. 2020;18:2108–18.
Google Scholar
JBI Manual for Evidence Synthesis – JBI Global Wiki [Internet]. [cited 2024 Apr 29]. Available from: https://jbi-global-wiki.refined.site/space/MANUAL.
Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche PC, Ioannidis JPA, et al. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. PLOS Med. 2009;6:e1000100.
Google Scholar
Johnson N, Phillips M. Rayyan for systematic reviews. J Electron Resour Librariansh. 2018;30:46–8.
Google Scholar
Hong QN, Fàbregues S, Bartlett G, Boardman F, Cargo M, Dagenais P, et al. The mixed methods appraisal tool (MMAT) version 2018 for information professionals and researchers. Educ Inf. 2018;34:285–91.
Heyvaert M, Hannes K, Onghena P. Using mixed methods research synthesis for literature reviews: the mixed methods research synthesis approach. SAGE Publications; 2016. 345.
Braun V, Clarke V. One size fits all? What counts as quality practice in (reflexive) thematic analysis? Qual Res Psychol. 2021;18:328–52.
Google Scholar
Smit AK, Sharman AR, Espinoza D, Wallingford C, Young MA, Dunlop K, et al. Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross-sectional survey of health professionals. Clin Genet. 2021;100:430–9.
Google Scholar
Pereira S, Munoz KA, Small BJ, Soda T, Torgerson LN, Sanchez CE, et al. Psychiatric polygenic risk scores: Child and adolescent psychiatrists’ knowledge, attitudes, and experiences. Am J Med Genet PART B-Neuropsychiatr Genet 2022;189:293–302.
Google Scholar
Lewis ACF, Perez EF, Prince AER, Flaxman HR, Gomez L, Brockman DG, et al. Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization. Genome Med. 2022;14:114.
Google Scholar
Riddle L, Joseph G, Caruncho M, Koenig BA, James JE. The role of polygenic risk scores in breast cancer risk perception and decision-making. J Community Genet. 2023;14:489–501.
Google Scholar
Yanes T, Kaur R, Meiser B, Scheepers-Joynt M, McInerny S, Barlow-Stewart K, et al. Women’s responses and understanding of polygenic breast cancer risk information. Fam Cancer. 2020;19:297–306.
Google Scholar
Young MA, Forrest LE, Rasmussen VM, James P, Mitchell G, Sawyer SD, et al. Making sense of SNPs: women’s understanding and experiences of receiving a personalized profile of their breast cancer risks. J Genet Couns. 2018;27:702–8.
Google Scholar
Laza-Vásquez C, Martínez-Alonso M, Forné-Izquierdo C, Vilaplana-Mayoral J, Cruz-Esteve I, Sánchez-López I, et al. Feasibility and acceptability of personalized breast cancer screening (DECIDO study): a single-arm proof-of-concept trial. Int J Environ Res Public Health [Internet]. 2022 [cited 8AD Jan 1];19. Available from: https://pubmed.ncbi.nlm.nih.gov/36012059/.
Willis AM, Smith SK, Meiser B, James PA, Ballinger ML, Thomas DM, et al. Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: “Another piece of the pie”. J Genet Couns. 2021;30:849–60.
Google Scholar
Forrest LE, Sawyer SD, Hallowell N, James PA, Young MA. High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information. J Community Genet. 2019;10:197–206.
Google Scholar
Putt S, Yanes T, Meiser B, Kaur R, Fullerton JM, Barlow-Stewart K, et al. Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder. J Affect Disord. 2020;265:342–50.
Google Scholar
Saya S, McIntosh J, Winship I, Milton S, Clendenning M, Kyriakides M, et al. Informed choice and attitudes regarding a genomic test to predict risk of colorectal cancer in general practice. Patient Educ Couns. 2022;105:987–95.
Google Scholar
Casauria S, Lewis S, Lynch F, Saffery R. Australian parental perceptions of genomic newborn screening for non-communicable diseases. Front Genet. 2023;14:1209762.
Google Scholar
Terek S, Del Rosario MC, Hain HS, Connolly JJ, Behr MA, Harr M, et al. Attitudes among parents towards return of disease-related polygenic risk scores (PRS) for their children. J Pers Med. 2022;12:1945.
Google Scholar
Suckiel SA, Braganza GT, Aguiñiga KL, Odgis JA, Bonini KE, Kenny EE, et al. Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores. Genet Med J Am Coll Med Genet. 2022;24:1217–26.
Kamp M, Pain O, May A, Lewis CM, Ramsay M. Clinicians’ Perceptions towards Precision Medicine Tools for Cardiovascular Disease Risk Stratification in South Africa. J Pers Med. 2022;12:1360.
Ayoub A, Lapointe J, Nabi H, Pashayan N. Risk-stratified breast cancer screening incorporating a polygenic risk score: a survey of UK general practitioners’ knowledge and attitudes. Genes. 2023;14:732.
Google Scholar
Lapointe J, Buron AC, Mbuya-Bienge C, Dorval M, Pashayan N, Brooks JD, et al. Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals. Genet Med J Am Coll Med Genet. 2022;24:2380–8.
Hollitt GL, Siggs OM, Ridge B, Keane MC, Mackey DA, MacGregor S, et al. Attitudes towards polygenic risk testing in individuals with glaucoma. In 2022. p. 436–46. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85123182731&doi=10.1016%2fj.ogla.2021.11.002&partnerID=40&md5=87877dd09be8129d124ca93d70f24d35.
Sierra MA, Wheeler JCW, Devereux L, Trainer AH, Keogh L. Exploring implementation of personal breast cancer risk assessments. J Pers Med. 2021;11.
Pacyna JE, Ennis JS, Kullo IJ, Sharp RR. Examining the impact of polygenic risk information in primary care. J Prim Care Community Health. 2023;14:21501319231151766.
Google Scholar
Yanes T, Young MA, Meiser B, James PA. Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field. Breast Cancer Res. 2020;22:21.
Google Scholar
Moorthy T, Nguyen H, Chen Y, Austin J, Smoller J, Hercher L, et al. How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia? Am J Med Genet PART B-Neuropsychiatr Genet. 2023;192:161–70.
Google Scholar
Vassy JL, Kerman BJ, Harris EJ, Lemke AA, Clayman ML, Antwi AA, et al. Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey. Eur J Hum Genet EJHG. 2023;31:1309–16.
Google Scholar
Venning B, Saya S, De Abreu Lourenco R, Street DJ, Emery JD. Preferences for a polygenic test to estimate cancer risk in a general Australian population. Genet Med. 2022;24:2144–54.
Google Scholar
Woof VG, McWilliams L, Donnelly LS, Howell A, Evans DG, Maxwell AJ, et al. Introducing a low-risk breast screening pathway into the NHS Breast Screening Programme: Views from healthcare professionals who are delivering risk-stratified screening. Women’s Health Lond Engl. 2021;17:17455065211009746.
Google Scholar
Christensen KD, Vassy JL, Jamal L, Lehmann LS, Slashinski MJ, Perry DL, et al. Are physicians prepared for whole genome sequencing? a qualitative analysis. Clin Genet. 2016;89:228–34.
Google Scholar
Nisselle A, King E, Terrill B, Davey B, McClaren B, Dunlop K, et al. Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation. NPJ Genom Med. 2023;8:13.
Google Scholar
Siermann M, Phillips A, Claesen-Bengtson Z, Steijvoort EV Stimulating professional collective responsibility from the outset in mainstreaming genomics. J Med Ethics [Internet]. 2024 May 7 [cited 2024 May 29]; Available from: https://jme-bmj-com.kuleuven.e-bronnen.be/content/early/2024/05/07/jme-2024-109998.
Ha VTD, Frizzo-Barker J, Chow-White P. Adopting clinical genomics: a systematic review of genomic literacy among physicians in cancer care. BMC Med Genomics. 2018;11:18.
Google Scholar
Oliveri S, Ferrari F, Manfrinati A, Pravettoni G. A systematic review of the psychological implications of genetic testing: a comparative analysis among cardiovascular, neurodegenerative and cancer diseases. Front Genet. 2018;9:624.
Google Scholar
Wade CH. What is the psychosocial impact of providing genetic and genomic health information to individuals? an overview of systematic reviews. Hastings Cent Rep. 2019;49:S88–96.
Google Scholar
Lowes K, Borle K, Folkersen L, Austin J. A qualitative study exploring the consumer experience of receiving self-initiated polygenic risk scores from a third-party website. Eur J Hum Genet. 2023;31:424–9.
Google Scholar
Peck L, Borle K, Folkersen L, Austin J. Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results? Eur J Hum Genet. 2022;30:81–7.
Google Scholar
Bunnik EM, Schermer MH, JW Janssens AC. The role of disease characteristics in the ethical debate on personal genome testing. BMC Med Genomics. 2012;5:4.
Google Scholar
Garrison NA, Brothers KB, Goldenberg AJ, Lynch JA. Genomic contextualism: shifting the rhetoric of genetic exceptionalism. Am J Bioeth AJOB. 2019;19:51–63.
Google Scholar
link
