Abstract
As the possibility of implementing population genomic screening programs for the risk of developing hereditary cancers in health systems increases, understanding how to support individuals who wish to have genomic screening is essential. This qualitative study aimed to link public perceived barriers to a) taking up the offer of population genomic screening for breast or prostate cancer risk and b) taking up risk-management options following their result, with possible theory-informed behaviour-change approaches that may support implementation. Ten focus groups were conducted with a total of 25 members of the Australian public to identify and then categorise barriers within the behaviour-change Capability, Opportunity, Motivation - Behaviour (COM-B) model. Ten COM-B categorised barriers were identified as perceived influences on an individual’s intentions to take-up the offer, including Capability (e.g., low public awareness), Opportunity (e.g., inconvenient sample collection procedure) and Motivation (e.g., genomic screening not perceived as relevant to an individual). Ten barriers for taking up risk-management options included Motivation (e.g., concerns about adverse health impact) and Opportunity (e.g., social opportunity and cost incurred to the individual). Our findings demonstrate that a nuanced approach is required to support people to take-up the offer of population genomic screening and, where appropriate, to adopt risk-management options. Even amongst participants who were enthusiastic about a population genomic screening program, needs were varied, demanding a range of implementation strategies. Promulgating equitable uptake of genomic screening and management options for breast and prostate cancer risk will require a needs-based approach.
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Data availability
The dataset generated and analysed during the current study can be made available from the corresponding author on reasonable request.
References
Tuffaha H, Edmunds K, Fairbairn D, Roberts MJ, Chambers S, Smith DP, et al. Guidelines for genetic testing in prostate cancer: a scoping review. Prostate Cancer Prostatic Dis. 2023. https://doi.org/10.1038/s41391-023-00676-0.
Manahan ER, Kuerer HM, Sebastian M, Hughes KS, Boughey JC, Euhus DM, et al. Consensus Guidelines on Genetic‘ Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons. Ann Surg Oncol. 2019;26:3025–31.
Rowley SM, Mascarenhas L, Devereux L, Li N, Amarasinghe KC, Zethoven M, et al. Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility. Genet Med. 2019;21:913–22.
Manchanda R, Blyuss O, Gaba F, Gordeev VS, Jacobs C, Burnell M, et al. Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population. J Med Genet. 2018;55:538–45.
Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci USA. 2014;111:14205–10.
Manchanda R, Patel S, Gordeev VS, Antoniou AC, Smith S, Lee A, et al. Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women. JNCI. 2018;110:714–25.
Clift AK, Dodwell D, Lord S, Petrou S, Brady SM, Collins GS, et al. The current status of risk-stratified breast screening. Br J Cancer. 2022;126:533–50.
Callender T, Emberton M, Morris S, Eeles R, Kote-Jarai Z, Pharoah PDP, et al. Polygenic risk-tailored screening for prostate cancer: A benefit-harm and cost-effectiveness modelling study. PLoS Med. 2019;16:e1002998.
Pashayan N, Morris S, Gilbert FJ, Pharoah PDP. Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer: A Life-Table Model. JAMA Oncol. 2018;4:1504–10.
Southey MC, Dowty JG, Riaz M, Steen JA, Renault A-L, Tucker K, et al. Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing. npj Breast Cancer. 2021;7:153.
Zhang L, Bao Y, Riaz M, Tiller J, Liew D, Zhuang X, et al. Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis. Genet Med. 2019;21:1958–68.
Shen EC, Srinivasan S, Passero LE, Allen CG, Dixon M, Foss K, et al. Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review. Front Genet. 2022;13:865384.
Dusic EJ, Theoryn T, Wang C, Swisher EM, Bowen DJ. Barriers, interventions, and recommendations: Improving the genetic testing landscape. Front Digit Health. 2022;4:961128.
Mittendorf KF, Knerr S, Kauffman TL, Lindberg NM, Anderson KP, Feigelson HS, et al. Systemic Barriers to Risk-Reducing Interventions for Hereditary Cancer Syndromes: Implications for Health Care Inequities. JCO Precis Oncol. 2021;5:1709–18.
Pashayan N, Antoniou AC, Ivanus U, Esserman LJ, Easton DF, French D, et al. Personalized early detection and prevention of breast cancer: ENVISION consensus statement. Nat Rev Clin Oncol. 2020;17:687–705.
Turbitt E, Biesecker BB. A primer in genomics for social and behavioral investigators. Transl Behav Med. 2020;10:451–6.
Allen CG, Peterson S, Khoury MJ, Brody LC, McBride CM. A scoping review of social and behavioral science research to translate genomic discoveries into population health impact. Transl Behav Med. 2021;11:901–11.
Michie S, van Stralen MM, West R. The behaviour change wheel: A new method for characterising and designing behaviour change interventions. Implement Sci. 2011;6:42.
Ballard LM, Band R, Lucassen AM. Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM). Eur J Hum Genet. 2023;31:988–1002.
Best S, Long JC, Fehlberg Z, Theodorou T, Hatem S, Archibald A, et al. The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening. Eur J Hum Genet. 2023;31:430–44.
O’Donovan B, Mooney T, Rimmer B, Fitzpatrick P, Flannelly G, Doherty L, et al. Advancing understanding of influences on cervical screening (non)-participation among younger and older women: A qualitative study using the theoretical domains framework and the COM-B model. Health Expect. 2021;24:2023–35.
Michie S, Johnston M, Francis J, Hardeman W, Eccles M. From Theory to Intervention: Mapping Theoretically Derived Behavioural Determinants to Behaviour Change Techniques. Appl Psychol. 2008;57:660–80.
Atkins L, Francis J, Islam R, O’Connor D, Patey A, Ivers N, et al. A guide to using the Theoretical Domains Framework of behaviour change to investigate implementation problems. Implement Sci. 2017;12:77.
Vears DF, Gillam L. Inductive content analysis: A guide for beginning qualitative researchers. FoHPE. 2022;23:111–27.
Australian Bureau of Statistics. Snapshot of Australia, Canberra: ABS; 2021, https://www.abs.gov.au/statistics/people/people-and-communities/snapshot-australia/latest-release.
Pearce A, Mitchell LA, Best S, Young M-A, Terrill B. Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review. Eur J Hum Genet. 2024;32:747–58.
Dodson DS, Goldenberg AJ, Davis MM, Singer DC, Tarini BA. Parent and public interest in whole-genome sequencing. Public Health Genomics. 2015;18:151–9.
Zoltick ES, Linderman MD, McGinniss MA, Ramos E, Ball MP, Church GM, et al. Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium. Genome Med. 2019;11:10.
Waltz TJ, Powell BJ, Fernández ME, Abadie B, Damschroder LJ. Choosing implementation strategies to address contextual barriers: diversity in recommendations and future directions. Implement Sci. 2019;14:42.
Alarcón Garavito GA, Moniz T, Déom N, Redin F, Pichini A, Vindrola-Padros C. The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review. Eur J Hum Genet. 2023;31:282–95.
Baumann AA, Stirman SW, Cabassa LJ. Adaptation in Dissemination and Implementation Science. In: Dissemination and Implementation Research in Health: Translating Science to Practice. New York: Oxford University Press; 2023.
Lai J, Mak V, Bright CJ, Lyratzopoulos G, Elliss-Brookes L, Gildea C. Reviewing the impact of 11 national Be Clear on Cancer public awareness campaigns, England, 2012 to 2016: A synthesis of published evaluation results. Int J Cancer. 2021;148:1172–82.
Allen CG, Roberts M, Andersen B, Khoury MJ. Communication About Hereditary Cancers on Social Media: A Content Analysis of Tweets About Hereditary Breast and Ovarian Cancer and Lynch Syndrome. J Cancer Educ. 2020;35:131–7.
Trepanier AM, Allain DC. Models of service delivery for cancer genetic risk assessment and counseling. J Genet Couns. 2014;23:239–53.
Mittendorf KF, Kauffman TL, Amendola LM, Anderson KP, Biesecker BB, Dorschner MO, et al. Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations. Contemp Clin Trials. 2021;106:106432.
McCuaig JM, Armel SR, Care M, Volenik A, Kim RH, Metcalfe KA. Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer. Cancers. 2018;10:435.
Willis AM, Terrill B, Pearce A, McEwen A, Ballinger ML, Young MA. My Research Results: a program to facilitate return of clinically actionable genomic research findings. Eur J Hum Genet. 2022;30:363–6.
Trivedi U, Omofoye TS, Marquez C, Sullivan CR, Benson DM, Whitman GJ. Mobile Mammography Services and Underserved Women. Diagnostics. 2022;12:902.
Phillips A, Niemiec E, Howard HC, Kagkelari K, Borry P, Vears DF. Communicating genetic information to family members: analysis of consent forms for diagnostic genomic sequencing. Eur J Hum Genet. 2020;28:1160–7.
Makhnoon S, Arun B, Bedrosian I. Helping Patients Understand and Cope with BRCA Mutations. Curr Oncol Rep. 2022;24:733–40.
Shickh S, Rafferty SA, Clausen M, Kodida R, Mighton C, Panchal S, et al. The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care. Genet Med. 2021;23:1086–94.
Bertonazzi B, Turchetti D, Godino L. Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: a systematic review. Eur J Hum Genet. 2022;30:398–405.
Anderson AS, Dunlop J, Gallant S, Macleod M, Miedzybrodzka Z, Mutrie N, et al. Feasibility study to assess the impact of a lifestyle intervention (‘LivingWELL’) in people having an assessment of their family history of colorectal or breast cancer. BMJ Open. 2018;8:e019410.
Buchanan AH, Voils CI, Schildkraut JM, Fine C, Horick NK, Marcom PK, et al. Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation. J Genet Couns. 2017;26:79–92.
Causarano N, Platt J, Baxter NN, Bagher S, Jones JM, Metcalfe KA, et al. Pre-consultation educational group intervention to improve shared decision-making for postmastectomy breast reconstruction: a pilot randomized controlled trial. Support Care Cancer. 2015;23:1365–75.
Hawley ST, Li Y, An LC, Resnicow K, Janz NK, Sabel MS, et al. Improving Breast Cancer Surgical Treatment Decision Making: The iCanDecide Randomized Clinical Trial. J Clin Oncol. 2018;36:659–66.
Tiller J, Morris S, Rice T, Barter K, Riaz M, Keogh L, et al. Genetic discrimination by Australian insurance companies: a survey of consumer experiences. Eur J Hum Genet. 2020;28:108–13.
Rogers EM, Singhal A, Quinlan MM. Diffusion of innovations. An integrated approach to communication theory and research. New York: Routledge; 2014. pp. 432–48.
Funding
The National Precision Health Research Translation for Breast and Prostate Cancer Prevention and Early Detection (INTREPID), is funded by the Australian Government’s National Health and Medical Research Council (NHMRC) Synergy Grants (GNT 2011329).
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Conceptualisation: ZF, CL, IG, SB; Methodology: ZF, CL, LF, IG, SB; Investigation: ZF, LF, CL, MCS, IG, SB; Formal analysis: ZF, LF, CL, SB; Interpretation of the results: ZF, NK, RLM, M-AY, AW, MCS, SB. Writing-original draft: ZF, SB; Writing-review & editing: ZF, NK, RLM, M-AY, AW, MCS, SB. All authors approved the final version and agreed to be accountable for all aspects of the work.
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41431_2024_1729_MOESM1_ESM.docx
Supplementary Material 1: Focus Group Guide: consumer views on uptake of population genomics risk screening for breast and prostate cancer
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Fehlberg, Z., Fisher, L., Liu, C. et al. Using a behaviour-change approach to support uptake of population genomic screening and management options for breast or prostate cancer. Eur J Hum Genet 33, 108–120 (2025). https://doi.org/10.1038/s41431-024-01729-1
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DOI: https://doi.org/10.1038/s41431-024-01729-1


