Kulchak Rahm Alanna, Cragun Deborah
National Human Genome Research Institute, Bethesda, Maryland, USA.
University of South Florida, Tampa, Florida, USA.
J Genet Couns. 2025 Jun;34(3):e70039. doi: 10.1002/jgc4.70039.
Implementation Science (IS) is a growing field that provides tools to understand and facilitate the uptake of research and policies into healthcare delivery to improve quality and outcomes. Genetic counselors are uniquely positioned as the implementers of genomic medicine, with many seeking to learn about and incorporate IS into genetic counseling education and practice. We propose that genetic counselors can utilize IS in many areas of their practice and research, such as when applying new evidence or integrating guidelines into practice and when leading or assisting with quality improvement or research projects. Our goal with this paper is to provide a general overview of IS and to introduce the basics of theories, models, and frameworks, study designs and methods, and measuring IS outcomes. In addition, we briefly discuss IS tools useful for understanding and eliminating disparities and inequities, and how IS can assist genetic counselors with policy or clinical guideline implementation. It is our belief that incorporating IS tools into practice and teaching IS approaches will add to the value of genetic counselors. To that end, our hope is that this paper becomes a starting point for the integration of IS into the profession to improve the impact of our services in every context, demonstrate the value we add in the practice of genomic medicine, and contribute to the growth and evolution of our profession.
实施科学（IS）是一个不断发展的领域，它提供工具来理解并促进将研究和政策应用于医疗服务提供过程，以提高质量和改善结果。遗传咨询师作为基因组医学的实施者具有独特的地位，许多人寻求了解并将实施科学纳入遗传咨询教育和实践中。我们认为，遗传咨询师可以在其实践和研究的许多领域利用实施科学，例如在应用新证据或将指南纳入实践时，以及在领导或协助质量改进或研究项目时。本文的目的是提供实施科学的总体概述，并介绍理论、模型和框架、研究设计和方法以及衡量实施科学结果的基础知识。此外，我们简要讨论有助于理解和消除差异与不公平现象的实施科学工具，以及实施科学如何协助遗传咨询师实施政策或临床指南。我们相信，将实施科学工具纳入实践并教授实施科学方法将增加遗传咨询师的价值。为此，我们希望本文成为将实施科学融入该专业的起点，以提高我们在各种情况下服务的影响力，展示我们在基因组医学实践中所增加的价值，并为我们专业的发展和演变做出贡献。
