European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-09-18 , DOI: 10.1038/s41431-020-00725-5 Swetha Srinivasan 1 , Nae Yeon Won 2 , W David Dotson 3 , Sarah T Wright 4 , Megan C Roberts 1
Cascade testing is the process of offering genetic counseling and testing to at-risk relatives of an individual who has been diagnosed with a genetic condition. It is critical for increasing the identification rates of individuals with these conditions and the uptake of appropriate preventive health services. The process of cascade testing is highly varied in clinical practice, and a comprehensive understanding of factors that hinder or enhance its implementation is necessary to improve this process. We conducted a systematic review to identify barriers and facilitators for cascade testing and searched PubMed, CINAHL via EBSCO, Web of Science, EMBASE, and the Cochrane Library for articles published from the databases’ inception to November 2018. Thirty articles met inclusion criteria. Barriers and facilitators identified from these studies at the individual-level were organized into the following categories: (1) demographics, (2) knowledge, (3) attitudes, beliefs, and emotional responses of the individual, and (4) perceptions of relatives, relatives’ responses, and attitudes toward relatives. At the interpersonal-level, barriers and facilitators were categorized as (1) family communication-, support- and dynamics-, and (2) provider-factors. Finally, barriers at the environmental-level relating to accessibility of genetic services were also identified. Our findings suggest that several individual, interpersonal and environmental factors may play a role in cascade testing. Future studies to further investigate these barriers and facilitators are needed to inform future interventions for improving the implementation of cascade testing for genetic conditions in clinical practice.
中文翻译:
遗传条件级联测试的障碍和促进因素:系统评价。
级联检测是为被诊断患有遗传病的个体的高危亲属提供遗传咨询和检测的过程。这对于提高患有这些疾病的个体的识别率和采用适当的预防性卫生服务至关重要。级联测试的过程在临床实践中变化很大,需要全面了解阻碍或促进其实施的因素,以改进这一过程。我们进行了系统审查,以确定级联测试的障碍和促进因素,并通过 EBSCO、Web of Science、EMBASE 和 Cochrane 图书馆搜索 PubMed、CINAHL,以查找从数据库成立到 2018 年 11 月发表的文章。 30 篇文章符合纳入标准。从这些个人层面的研究中确定的障碍和促进因素分为以下几类:(1) 人口统计学,(2) 知识,(3) 个人的态度、信念和情绪反应,以及 (4) 对亲属的看法、亲属的反应以及对亲属的态度。在人际层面,障碍和促进因素被归类为 (1) 家庭沟通、支持和动力,以及 (2) 提供者因素。最后,还确定了与遗传服务可及性相关的环境层面的障碍。我们的研究结果表明,几个个人、人际关系和环境因素可能在级联测试中发挥作用。