Implementation science frameworks with a focus on health equity have emerged to help guide the introduction of new interventions into healthcare and community settings while limiting health disparities. The purpose of this research was to explore the applicability of such frameworks to guide the equitable implementation of population genetic screening programs. We searched PubMed and reference lists for relevant frameworks and examples of their use in health settings. We then assessed if and how selected frameworks provide guidance for different stages of population genetic screening: recruitment, sample collection, result return, follow-up care and prevention, and cascade screening. Findings were synthesized into a list of health equity considerations specific to each stage. We identified 5 implementation frameworks that focus on health equity. Guidance varied by framework type: determinant (explaining what affects implementation outcomes), process (translating research into practice), or evaluation (assessing implementation). Common characteristics included focusing implementation efforts on populations who have historically experienced health inequities and adapting interventions to fit local contexts. Process models also highlighted the importance of community partnerships. Overall, frameworks offered broad recommendations applicable to population genetic screening program implementation. However, gaps still exist in guidance provided for later stages of population genetic screening. To improve the equitable implementation of genetic screening, future programs may benefit from utilizing one or more of these frameworks or by incorporating the health equity considerations and outcomes compiled in this analysis.

中文翻译：

---

将健康公平实施科学框架应用于人口遗传筛查

以健康公平为重点的实施科学框架已经出现，有助于指导在医疗保健和社区环境中引入新的干预措施，同时限制健康差异。本研究的目的是探索此类框架的适用性，以指导公平实施群体遗传筛查计划。我们在 PubMed 和参考文献列表中搜索了相关框架及其在健康环境中的使用示例。然后，我们评估了选定的框架是否以及如何为人群遗传筛查的不同阶段提供指导：招募、样本收集、结果返回、后续护理和预防以及级联筛查。研究结果被综合成针对每个阶段的健康公平考虑因素列表。我们确定了 5 个注重健康公平的实施框架。指导因框架类型而异：决定因素（解释影响实施结果的因素）、过程（将研究转化为实践）或评估（评估实施情况）。共同特征包括将实施工作的重点放在历史上经历过健康不平等的人群上，并根据当地情况调整干预措施。流程模型还强调了社区伙伴关系的重要性。总体而言，框架提供了适用于人群遗传筛查计划实施的广泛建议。然而，为群体遗传筛查后期阶段提供的指导仍然存在差距。为了改善基因筛查的公平实施，未来的计划可能会受益于利用这些框架中的一个或多个，或纳入本分析中汇编的健康公平考虑因素和结果。