Sheriff Samran, Vizheh Maryam, Patel Romika, Spanos Samantha, Lamprell Klay, Braithwaite Jeffrey, Long Janet C
Centre for Healthcare Resilience and Implementation Science, Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
Eur J Hum Genet. 2025 Jul 2. doi: 10.1038/s41431-025-01904-y.
The integration of genetic testing into primary care is influencing healthcare practices, yet little is known about consumers' knowledge, attitudes, and experiences with genetic testing services or the practitioners who provide them. This systematic review synthesizes peer-reviewed studies on consumers' perspectives regarding the role of primary health professionals in delivering genomic medicine in primary care settings. Six databases (PubMed, Scopus, Embase, CINAHL, Cochrane Library and PsycINFO) were systematically searched. Inclusion criteria focused on studies that addressed consumers' knowledge, attitudes, and experiences related to Primary Care Providers' (PCP) roles in genomic medicine. Data relevant to the review objective, including key article characteristics, barriers and facilitators of implementation, and recommendations for advancement or optimisation, were extracted and analysed using thematic analysis. We reviewed 19 studies meeting the inclusion criteria involving 3557 participants. Thematic analysis identified two overarching themes: consumer views on genomic testing irrespective of setting, comprising three sub-themes, and consumer views on genomic testing in the primary care setting, comprising four sub-themes. Consumers' trust in PCPs as familiar and approachable professionals was a major concern. Consumers often reported positive experiences when PCPs were well-informed and communicative, but negative experiences were common when there was a perceived lack of knowledge or confidence from the PCP. As reported in other healthcare settings, concerns about privacy, data security, and the cost of genomic testing were also prominent. Integrating genomic medicine into primary care requires trust-building between PCPs and consumers, enhancing PCP education and resources, addressing privacy and cost concerns and strengthening collaboration with genetic specialists to improve consumer experiences.
将基因检测纳入初级保健正在影响医疗保健实践，但对于消费者对基因检测服务或提供这些服务的从业者的知识、态度和体验却知之甚少。本系统综述综合了同行评审的研究，这些研究探讨了消费者对初级卫生专业人员在初级保健环境中提供基因组医学方面作用的看法。我们系统检索了六个数据库（PubMed、Scopus、Embase、CINAHL、Cochrane图书馆和PsycINFO）。纳入标准侧重于涉及消费者与初级保健提供者（PCP）在基因组医学中作用相关的知识、态度和体验的研究。使用主题分析法提取并分析了与综述目标相关的数据，包括关键文章特征、实施的障碍和促进因素以及推进或优化的建议。我们审查了19项符合纳入标准的研究，涉及3557名参与者。主题分析确定了两个总体主题：无论环境如何，消费者对基因检测的看法，包括三个子主题；以及消费者对初级保健环境中基因检测的看法，包括四个子主题。消费者对作为熟悉且平易近人的专业人员的初级保健提供者的信任是一个主要关注点。当初级保健提供者信息充分且善于沟通时，消费者经常报告积极的体验，但当认为初级保健提供者缺乏知识或信心时，负面体验很常见。正如在其他医疗保健环境中所报道的那样，对隐私、数据安全和基因检测成本的担忧也很突出。将基因组医学纳入初级保健需要在初级保健提供者和消费者之间建立信任，加强初级保健提供者的教育和资源，解决隐私和成本问题，并加强与基因专家的合作，以改善消费者体验。
