Center for Outcomes Research and Education (CORE), Providence Health and Services Oregon, Portland, Oregon, USA.
Providence Genomics, Renton, Washington, USA.
BMJ Open. 2024 Oct 23;14(10):e089884. doi: 10.1136/bmjopen-2024-089884.
Population-based genetic screening and testing programmes have substantial potential to improve cancer-related outcomes through early detection and cancer prevention. Yet, genetic testing for cancer risk remains largely underused. This study aimed to describe barriers and facilitators to patient engagement at each stage of a California-based genetic screening programme, from completing the electronic screener to receiving the test and to identify potential improvements that could support precision medicine-based approaches to patient care.
We conducted 26 semistructured interviews among programme participants who did not complete the screener (n=9), those who did not receive the recommended test (n=7) and those who received a genetic test (n=10). Interviewees were selected from patients who recently received a mammogram through one of the participating Southern California clinics. Interviews were transcribed and coded using Atlas.ti. The study used a qualitative descriptive approach to identify similar and contrasting themes among the participant groups.
This study found that barriers and facilitators to engagement were largely the same regardless of how far participants had moved through the process towards getting a genetic test. We identified four overarching themes: participants wanted clear communication of personal benefits at each stage; participants needed additional information and knowledge to navigate genetic screening and testing; a trusted provider could be instrumental in participants following a recommendation; and repetition and timing strongly impacted participants' likelihood to engage.
Providing education about the benefits of genetic screening and testing to patients and their families, as well as clear communication about what each step entails may help patients engage with similar programmes. Strategies aimed at increasing coordination among a patient's healthcare team can also help ensure information reaches patients in multiple ways, from multiple providers, to increase the likelihood that recommendations for testing come from trusted sources, which supports the uptake of genetic testing.
基于人群的遗传筛查和检测计划通过早期发现和癌症预防，具有显著改善癌症相关结局的潜力。然而，癌症风险的基因检测在很大程度上仍未得到充分利用。本研究旨在描述加利福尼亚州遗传筛查计划各个阶段患者参与的障碍和促进因素，从完成电子筛查器到接受测试，并确定潜在的改进措施，以支持基于精准医学的患者护理方法。
我们对 26 名未完成筛查（n=9）、未接受建议测试（n=7）和接受基因测试（n=10）的计划参与者进行了半结构化访谈。参与者从最近通过参与的南加州诊所之一接受乳房 X 光检查的患者中选择。使用 Atlas.ti 对访谈进行转录和编码。该研究采用定性描述方法，以识别参与者群体中相似和对比的主题。
本研究发现，无论参与者在获得基因测试过程中走了多远，参与的障碍和促进因素在很大程度上是相同的。我们确定了四个总体主题：参与者希望在每个阶段都能清楚地了解个人利益；参与者需要额外的信息和知识来进行遗传筛查和检测；可信赖的提供者可以帮助参与者遵循建议；重复和时间安排强烈影响参与者参与的可能性。
向患者及其家属提供关于遗传筛查和检测益处的教育，以及清楚地沟通每个步骤的内容，可能有助于患者参与类似的计划。旨在增加患者医疗团队之间协调的策略也可以帮助确保信息以多种方式到达患者，来自多个提供者，以增加来自可信赖来源的测试建议的可能性，从而支持基因检测的采用。
