+ Our Future Health (2022) Seven things you need to know about Our Future Health. 30 June 2022. Our Future Health. https://ourfuturehealth.org.uk/news/seven-things-you-need-to-know-about-the-uks-largest-ever-health-research-programme/ [Accessed: 14 July 2023].

Archer S, Babb de Villiers C, Scheibl F, Carver T, Hartley S, Lee A, Cunningham AP, Easton DF, McIntosh JG, Emery J, Tischkowitz M, Antoniou AC, Walter FM (2020) Evaluating clinician acceptability of the prototype CanRisk tool for predicting risk of breast and ovarian cancer: a multi-methods study. PLoS One 15(3):e0229999. https://doi.org/10.1371/journal.pone.0229999

Article  CAS  PubMed  PubMed Central  Google Scholar 

Archer S, Donoso FS, Carver T, Yue A, Cunningham AP, Ficorella L, Tischkowitz M, Easton DF, Antoniou AC, Emery J, Usher-Smith J, Walter FM (2023) Exploring the barriers to and facilitators of implementing CanRisk in primary care: a qualitative thematic framework analysis. Br J Gen Pract. https://doi.org/10.3399/BJGP.2022.0643

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. https://doi.org/10.3390/genes14030732

Article  CAS  PubMed  PubMed Central  Google Scholar 

Benafif S, Ni Raghallaigh H, McGrowder E, Saunders EJ, Brook MN et al (2022) The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening. BJU Int 129(3):325–336. https://doi.org/10.1111/bju.15535

Article  CAS  PubMed  Google Scholar 

Brockman DG, Petronio L, Dron JS, Kwon BC, Vosburg T, Nip L, Tang A, O’Reilly M, Lennon N, Wong B, Ng K, Huang KH, Fahed AC, Khera AV (2021) Design and user experience testing of a polygenic score report: a qualitative study of prospective users. BMC Med Genet 14(1):238. https://doi.org/10.1186/s12920-021-01056-0

Article  Google Scholar 

Butrick MN, Vanhusen L, Leventhal K-G, Hooker GW, Nusbaum R, Peshkin BN, Salehizadeh Y, Pavlick J, Schwartz MD, Graves KD (2014) Discussing race-related limitations of genomic testing for colon cancer risk: implications for education and counseling. Soc Sci Med (1982) 114:26–37. https://doi.org/10.1016/j.socscimed.2014.05.014

Article  Google Scholar 

Cancer Research UK (2018) Cancer in the UK 2018.p.20. https://www.cancerresearchuk.org/sites/default/files/state_of_the_nation_apr_2018_v2_0.pdf.

CanRisk v2.3.5 (2023) CanRisk. 12 June 2023. https://www.canrisk.org [Accessed: 14 September 2023].

Cavazos TB, Witte JS (2021) Inclusion of variants discovered from diverse populations improves polygenic risk score transferability. Hum Genet Genom Adv 2(1):100017. https://doi.org/10.1016/j.xhgg.2020.100017

Article  CAS  Google Scholar 

Conran CA, Shi Z, Resurreccion WK, Na R, Helfand BT, Genova E, Zheng SL, Brendler CB, Xu J (2021) Assessing the clinical utility of genetic risk scores for targeted cancer screening. J Transl Med 19(1):41. https://doi.org/10.1186/s12967-020-02699-w

Article  CAS  PubMed  PubMed Central  Google Scholar 

Esserman LJ (2017) The WISDOM Study: breaking the deadlock in the breast cancer screening debate. npj. Breast Cancer 3(1):1–7. https://doi.org/10.1038/s41523-017-0035-5

Article  Google Scholar 

Fatumo S, Chikowore T, Choudhury A, Ayub M, Martin AR, Kuchenbaecker K (2022) A roadmap to increase diversity in genomic studies. Nat Med 28(2):243–250. https://doi.org/10.1038/s41591-021-01672-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fredsoe J, Kirkegaard P, Edwards A, Vedsted P, Sorensen KD, Bro F (2020a) A genetic risk assessment for prostate cancer influences patients’ risk perception and use of repeat psa testing: a cross-sectional study in danish general practice. BJGP Open 4(2):1039. https://doi.org/10.3399/BJGPOPEN20X101039

Article  Google Scholar 

Fredsoe J, Koetsenruyter J, Vedsted P, Kirkegaard P, Vaeth M, Edwards A, Orntoft TF, Sorensen KD, Bro F (2020b) The effect of assessing genetic risk of prostate cancer on the use of PSA tests in primary care: a cluster randomized controlled trial. PLoS Med 17(2):e1003033. https://doi.org/10.1371/journal.pmed.1003033

Article  CAS  PubMed  PubMed Central  Google Scholar 

French DP, Cameron E, Benton JS, Deaton C, Harvie M (2017) Can communicating personalised disease risk promote healthy behaviour change? a systematic review of systematic reviews. Ann Behav Med 51(5):718–729. https://doi.org/10.1007/s12160-017-9895-z

Article  PubMed  Google Scholar 

Genomics Education Programme (2023) NHS England Genomics Education - Delivering genomics education, training and experience for the healthcare workforce. 13 October 2023. HEE Genomics Education Programme. https://www.genomicseducation.hee.nhs.uk/ [Accessed: 19 October 2023].

Graves KD, Leventhal K-G, Nusbaum R, Salehizadeh Y, Hooker GW, Peshkin BN, Butrick M, Tuong W, Mathew J, Goerlitz D, Fishman MB, Shields PG, Schwartz MD (2013) Behavioral and psychosocial responses to genomic testing for colorectal cancer risk. Genomics 102(2):123–130. https://doi.org/10.1016/j.ygeno.2013.04.002

Article  CAS  PubMed  Google Scholar 

Green H.D., Merriel S.W.D., Oram R.A., Ruth K.S., Tyrrell J., Jones S.E., Thirlwell C., Weedon M.N., & Bailey S.E.R. (2022) Applying a genetic risk score for prostate cancer to men with lower urinary tract symptoms in primary care to predict prostate cancer diagnosis: a cohort study in the UK Biobank. medRxiv. ((Green) Exeter Centre of Excellence for Diabetes Research (EXCEED), University of Exeter, Medical School, St Luke’s Campus, University of Exeter, Heavitree Road, Devon, Exeter EX1 2LU, United Kingdom). 10.1101/2022.01.21.22269629.

Hamilton JG, Abdiwahab E, Edwards HM, Fang M-L, Jdayani A, Breslau ES (2017) Primary care providers’ cancer genetic testing-related knowledge, attitudes, and communication behaviors: a systematic review and research agenda. J Gen Intern Med 32(3):315–324. https://doi.org/10.1007/s11606-016-3943-4

Article  PubMed  Google Scholar 

Hao L, Kraft P, Berriz GF, Hynes ED, Koch C et al (2022) Development of a clinical polygenic risk score assay and reporting workflow. Nat Med 28(5):1006–1013. https://doi.org/10.1038/s41591-022-01767-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hollands GJ, French DP, Griffin SJ, Prevost AT, Sutton S, King S, Marteau TM (2016) The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis. The BMJ 352:i1102. https://doi.org/10.1136/bmj.i1102

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hong QN, Fàbregues S, Bartlett G, Boardman F, Cargo M, Dagenais P, Gagnon M-P, Griffiths F, Nicolau B, O’Cathain A, Rousseau M-C, Vedel I, Pluye P (2018) The Mixed Methods Appraisal Tool (MMAT) version 2018 for information professionals and researchers. Educ Inf 34(4):285–291. https://doi.org/10.3233/EFI-180221

Article  Google Scholar 

Huntley C, Torr B, Sud A, Rowlands CF, Way R, Snape K, Hanson H, Swanton C, Broggio J, Lucassen A, McCartney M, Houlston RS, Hingorani AD, Jones ME, Turnbull C (2023) Utility of polygenic risk scores in UK cancer screening: a modelling analysis. Lancet Oncol 24(6):658–668. https://doi.org/10.1016/S1470-2045(23)00156-0

Article  PubMed  Google Scholar 

International Agency for Research on Cancer, W. (2023) Cancer Tomorrow- a tool that predicts future cancer incidence and mortality burden worldwide form the current estimates in 2020 up until 2040. https://gco.iarc.fr/tomorrow/en.

Kerman BJ, Brunette CA, Harris EJ, Antwi AA, Lemke AA, Vassy JL (2023) Primary care physician use of patient race and polygenic risk scores in medical decision-making. Genet Med 25(4):100800. https://doi.org/10.1016/j.gim.2023.100800

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kirkegaard P, Edwards A, Nielsen TLO, Orntoft TF, Sorensen KD, Borre M, Bro F (2018) Perceptions about screening for prostate cancer using genetic lifetime risk assessment: a qualitative study. BMC Fam Pract 19(1):32. https://doi.org/10.1186/s12875-018-0717-6

Article  PubMed  PubMed Central  Google Scholar 

Kirkegaard P, Vedsted P, Edwards A, Fenger-Gron M, Bro F (2013) A cluster-randomised, parallel group, controlled intervention study of genetic prostate cancer risk assessment and use of psa tests in general practice-the ProCaRis study: study protocol. BMJ Open 3(3):002452. https://doi.org/10.1136/bmjopen-2012-002452

Article  Google Scholar 

Klein EA, Richards D, Cohn A, Tummala M, Lapham R, Cosgrove D, Chung G, Clement J, Gao J, Hunkapiller N, Jamshidi A, Kurtzman KN, Seiden MV, Swanton C, Liu MC (2021) Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set. Ann Oncol 32(9):1167–1177. https://doi.org/10.1016/j.annonc.2021.05.806

Article  CAS  PubMed  Google Scholar 

Laforest F, Kirkegaard P, Mann B, Edwards A (2019) Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes. Br J Gen Pract 69(679):e97–e105. https://doi.org/10.3399/bjgp18X700265

Article  PubMed  Google Scholar 

Laza-Vásquez C, Martínez-Alonso M, Forné-Izquierdo C, Vilaplana-Mayoral J, Cruz-Esteve I, Sánchez-López I, Reñé-Reñé M, Cazorla-Sánchez C, Hernández-Andreu M, Galindo-Ortego G, Llorens-Gabandé M, Pons-Rodríguez A, Rué M (2022) Feasibility and acceptability of personalized breast cancer screening (DECIDO Study): a single-arm proof-of-concept trial. Int J Environ Res Public Health 19(16):10426. https://doi.org/10.3390/ijerph191610426

Article  PubMed  PubMed Central  Google Scholar 

Leventhal K-G, Tuong W, Peshkin BN, Salehizadeh Y, Fishman MB, Eggly S, FitzGerald K, Schwartz MD, Graves KD (2013) ‘Is it really worth it to get tested?’: primary care patients’ impressions of predictive SNP testing for colon cancer. J Genet Couns 22(1):138–151. https://doi.org/10.1007/s10897-012-9530-x

Article  PubMed  Google Scholar 

Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL et al (2023) Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med 25(4). https://doi.org/10.1016/j.gim.2023.100006

McHugh JK, Raghallaigh HN, Bancroft E, Kote-Jarai Z, Benafif S, Eeles RA (2022) The BARCODE1 study in primary care: early results targeting men with increased genetic risk of developing prostate cancer-examining the interim data from a community-based screening program using polygenic risk score to target screening. J Clin Oncol 40(6 SUPPL). https://doi.org/10.1200/JCO.2022.40.6_suppl.231

McWilliams L, Evans DG, Payne K, Harrison F, Howell A, Howell SJ, French DP (2022) Implementing risk-stratified breast screening in england: an agenda setting meeting. Cancers 14(19):4636. https://doi.org/10.3390/cancers14194636

Article  PubMed  PubMed Central  Google Scholar 

Moorthie, S., Hall, A., Janus, J., Brigden, T., Babb de Villiers, C., Blackburn, L., Johnson, E. & Kroese, M. (2021) Polygenic Scores and clinical utility. https://www.phgfoundation.org/media/35/download/polygenic-scores-and-clinical-utility.pdf?v=1&inline=1.

Moorthie, S., Janus, J., Turner, H., Babb de Villiers, C., Mitchell, C. & Kroese, M. (2023) Evaluation of polygenic score applications. https://www.phgfoundation.org/media/880/download/Evaluation%20of%20polygenic%20score%20applications.pdf?v=1&inline=1.

Myers RE, Ruth K, Manne SL, Cocroft J, Sifri R, Ziring B, Burgh D, Ross E, Weinberg DS (2015) Effects of genetic and environmental risk assessment feedback on colorectal cancer screening adherence. J Behav Med 38(5):777–786. https://doi.org/10.1007/s10865-015-9626-5

Article  PubMed  Google Scholar 

MyPeBS (2022) International randomized study comparing personalized, risk-stratified to standard breast cancer screening in women aged 40-70. https://clinicaltrials.gov/ct2/show/NCT03672331.

National Institute for Health and CareExcellence, N. (2015) Overview | Suspected cancer: recognition and referral | Guidance | NICE. https://www.nice.org.uk/guidance/ng12.

National Institutes of Health (NIH) (2024) The All of Us Research Programme. 2024. https://gbr01.safelinks.protection.outlook.com/?url=https%3A%2F%2Fallofus.nih.gov%2F&data=05%7C02%7Cfdannhauser%40nhs.net%7C72efe104b70b41c0148f08dc36bc4f05%7C37c354b285b047f5b22207b48d774ee3%7C0%7C0%7C638445429604109248%7CU