Fehlberg Zoe, Fisher Louise, Liu Cun, Kugenthiran Nathasha, Milne Roger L, Young Mary-Anne, Willis Amanda, Southey Melissa C, Goranitis Ilias, Best Stephanie
Economics of Genomics and Precision Medicine Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
Australian Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Eur J Hum Genet. 2025 Jan;33(1):108-120. doi: 10.1038/s41431-024-01729-1. Epub 2024 Nov 12.
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.
随着卫生系统中为遗传性癌症发病风险实施人群基因组筛查项目的可能性增加，了解如何支持希望进行基因组筛查的个人至关重要。这项定性研究旨在将公众感知到的障碍与以下两方面联系起来：a）接受针对乳腺癌或前列腺癌风险的人群基因组筛查提议；b）在得知结果后接受风险管理方案，并找出可能支持实施的、基于理论的行为改变方法。研究人员与25名澳大利亚公众成员进行了10个焦点小组讨论，以识别并在行为改变的能力、机会、动机 - 行为（COM - B）模型中对障碍进行分类。确定了10个经COM - B分类的障碍，这些障碍被认为会影响个人接受提议的意愿，包括能力（例如，公众意识淡薄）、机会（例如，样本采集程序不便）和动机（例如，认为基因组筛查与个人无关）。接受风险管理方案的10个障碍包括动机（例如，担心对健康产生不利影响）和机会（例如，社会机会以及个人产生的成本）。我们的研究结果表明，需要一种细致入微的方法来支持人们接受人群基因组筛查提议，并在适当情况下采用风险管理方案。即使在对人群基因组筛查项目充满热情的参与者中，需求也各不相同，这需要一系列的实施策略。促进公平接受乳腺癌和前列腺癌风险的基因组筛查及管理方案将需要一种基于需求的方法。
