Clinical Ethics, Law and Society (CELS), Primary Care, Population Sciences and Medical Education, University of Southampton, Southampton General Hospital, South Academic Block, Tremona Road, Southampton, SO16 6YD, UK.
NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Eur J Hum Genet. 2023 Sep;31(9):988-1002. doi: 10.1038/s41431-023-01400-1. Epub 2023 Jun 21.
Whilst the finding of heritable susceptibility to disease was once relatively rare, mainstreaming of genetic testing has resulted in a steady increase. Patients are often encouraged to share their genetic test results with relevant relatives, but relatives may not receive this information, leaving them without knowledge of their own risk. Therefore, strategies to help communicate such information are important. This review aimed to explore the efficacy of existing interventions to improve the sharing of genetic test results. A synthesis without meta-analysis design was used. A systematic search of Medline, CINAHL, PsychINFO, and AMED was conducted, and five studies were identified worldwide. Data were extracted for each study regarding study aim, participant characteristics, condition, intervention details, comparison, study duration, outcome measures, theory and behaviour change techniques used. Limited efficacy and application of theory was found. Knowledge, motivation and self-efficacy were not increased in any intervention. No gender differences in communication behaviour were encountered in interventions that recruited men and women. Two studies reported an evaluation of acceptability, which showed that the interventions were well received by patients and health professionals. No study reported the involvement of the target population in any phase of intervention development. Given the lack of health psychology-informed interventions in this area of clinical genetics, we recommend genetic health professionals, health psychologists and patients collaborate on all stages of future interventions that involve the cascading of genetic health information within families. We also provide guidance regarding use of theory and intervention elements for future intervention development.
虽然遗传性疾病易感性的发现曾经相对较少，但基因检测的主流化导致其数量稳步增加。患者通常被鼓励与相关亲属分享他们的基因检测结果，但亲属可能无法获得这些信息，使他们不知道自己的风险。因此，帮助沟通这些信息的策略非常重要。本综述旨在探讨现有干预措施提高基因检测结果共享效果的效果。采用了无荟萃分析的综合设计。系统地检索了 Medline、CINAHL、PsychINFO 和 AMED，并在全球范围内确定了五项研究。对每项研究的数据进行了提取，包括研究目的、参与者特征、条件、干预细节、比较、研究持续时间、结果测量、使用的理论和行为改变技术。研究发现，干预措施的效果和理论应用有限。在任何干预措施中，知识、动机和自我效能感都没有增加。在招募男性和女性的干预措施中，没有发现沟通行为存在性别差异。两项研究报告了对可接受性的评估，结果表明干预措施得到了患者和卫生专业人员的好评。没有研究报告目标人群参与干预措施发展的任何阶段。鉴于该临床遗传学领域缺乏基于健康心理学的干预措施，我们建议遗传健康专业人员、健康心理学家和患者在涉及家族内遗传健康信息级联的未来干预措施的所有阶段进行合作。我们还提供了关于未来干预措施发展中理论和干预元素使用的指导。
