Sociology, School of Social Sciences, Nanyang Technological University, Singapore.
Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore.
Fam Med Community Health. 2022 Nov;10(4). doi: 10.1136/fmch-2021-001515.
The proliferation and growing demands of genetic testing are anticipated to revolutionise medical practice. As gatekeepers of healthcare systems, general practitioners (GPs) are expected to play a critical role in the provision of clinical genetic services. This paper aims to review existing literature on GPs' experience, attitudes and needs towards clinical genetic services.
A systematic mixed studies review of papers published between 2010 and 2022.
The inclusion criterion was peer-reviewed articles in English and related to GPs' experience, views and needs on any genetic testing.
The PubMed, PsycINFO, Cochrane, EMBASE databases were searched using Mesh terms, Boolean and wildcards combinations to identify peer-reviewed articles published from 2010 to 2022. Study quality was assessed using Mixed Methods Appraisal Tool. Only articles that fulfilled the inclusion criteria were selected. A thematic meta-synthesis was conducted on the final sample of selected articles to identify key themes.
A total of 62 articles were included in the review. Uncertainty over GPs' role in providing genetic services were attributed by the lack of confidence and time constraints and rarity of cases may further exacerbate their reluctance to shoulder an expanded role in clinical genetics. Although educational interventions were found to increasing GPs' knowledge and confidence to carry out genetic tasks, varied interest on genetic testing and preference for a shared care model with other genetic health professionals have resulted in minimal translation to clinical adoption.
This review highlights the need for deeper exploration of GPs' varied experience and attitudes towards clinical genetic services to better facilitate targeted intervention in the adoption of clinical genetics.
基因检测的普及和需求的增长预计将彻底改变医疗实践。作为医疗保健系统的把关者,全科医生(GP)预计将在提供临床遗传服务方面发挥关键作用。本文旨在综述现有的关于 GP 对临床遗传服务的经验、态度和需求的文献。
对 2010 年至 2022 年期间发表的论文进行系统的混合研究综述。
纳入标准为发表在英文期刊上的同行评议文章,内容涉及 GP 在任何基因检测方面的经验、观点和需求。
使用 MeSH 术语、布尔逻辑和通配符组合在 PubMed、PsycINFO、Cochrane、EMBASE 数据库中进行搜索,以确定 2010 年至 2022 年发表的同行评议文章。使用混合方法评估工具评估研究质量。仅选择符合纳入标准的文章。对最终选定文章的样本进行主题元综合分析,以确定关键主题。
共纳入 62 篇文章。由于缺乏信心和时间限制,GP 在提供遗传服务方面的角色不确定性,以及病例的罕见性可能进一步加剧他们不愿在临床遗传学中承担更大的角色。尽管教育干预被发现可以提高 GP 进行遗传任务的知识和信心,但对基因检测的兴趣不同,以及对与其他遗传健康专业人员共享护理模式的偏好,导致向临床应用的转化微乎其微。
本综述强调需要更深入地探讨 GP 对临床遗传服务的不同经验和态度,以更好地促进临床遗传学的采用。