Purpose

Despite rapid advancements in genetics and genomics, referral practices remain suboptimal. This systematic review assesses the extent to which approaches from implementation science have been applied to address suboptimal genetic referral practices.

Methods

A search of MEDLINE, EMBASE, and PsycINFO generated 7,794 articles, of which 28 were included. Lay barriers were mapped to the Theoretical Domains Framework (TDF) and interventions mapped to behavior change techniques. Use of implementation and behavior change frameworks was assessed, and the Theory and Techniques Tool used to determine theoretical alignment.

Results

Knowledge was the most frequent retrospectively TDF-coded barrier, followed by environmental context and resources, and skills. Significant referral improvements occurred in 56% of studies. Among these, the most frequent interventions were clinical data review systems, family history collection and referral tools, and embedding genetics staff into nongenetic specialties. Few studies used implementation frameworks or reported implementation outcomes, though some deployed intuitive strategies that aligned with theory.

Conclusion

Genetic referral interventions are rarely informed by implementation and/or behavior change theories, limiting opportunities for learning across contexts. Retrospective coding has provided a suite of theoretically linked strategies, which may be useful for informing future efforts. Incorporating these strategies into clinical guidelines may facilitate operationalization within the system.

中文翻译：

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旨在改善遗传转诊实践的干预策略的设计、实施和有效性：对文献的系统评价

目的

尽管遗传学和基因组学取得了快速进展，但转诊实践仍然不是最理想的。该系统评价评估了实施科学的方法在多大程度上应用于解决次优遗传转诊实践。

方法

对 MEDLINE、EMBASE 和 PsycINFO 的搜索生成了 7,794 篇文章，其中 28 篇被收录。外行障碍映射到理论领域框架 (TDF)，干预映射到行为改变技术。评估了实施和行为改变框架的使用，并使用了理论和技术工具来确定理论一致性。

结果

知识是最常见的回顾性 TDF 编码障碍，其次是环境背景和资源以及技能。56% 的研究出现了显着的转诊改善。其中，最常见的干预措施是临床数据审查系统、家族史收集和转诊工具，以及将遗传学人员纳入非遗传专业。很少有研究使用实施框架或报告实施结果，尽管一些研究部署了与理论一致的直观策略。

结论

遗传转诊干预很少受到实施和/或行为改变理论的影响，限制了跨环境学习的机会。回顾性编码提供了一套理论上相关的策略，这可能有助于为未来的工作提供信息。将这些策略纳入临床指南可以促进系统内的操作。