Greenberg Samantha E, Reys Brian, Fisher Heather, Basit Mujeeb
Department of Health Care Sciences, UT Southwestern Medical Center, Dallas, Texas, USA.
Simmons Comprehensive Cancer Center, UT Southwestern Medical Center, Dallas, Texas, USA.
J Genet Couns. 2025 Jun;34(3):e70058. doi: 10.1002/jgc4.70058.
As health care embraces learning health systems, data-oriented approaches provide a path for genetic counselors to actively contribute to improving clinical care through evidence-driven insights. The informatics-driven querying of electronic health record (EHR) data in genetic counseling has the potential to advance clinical practice, quality improvement, and research. This paper examines the opportunities and challenges associated with leveraging EHR data in genetic counseling, with a focus on practical, collaborative, and future-oriented applications. Quality improvement initiatives focused on identifying eligible patients for genetic services, assessing access and uptake patterns, and evaluating genetic testing outcomes serve as a natural gateway to research. Here, we demonstrate how genetic counseling professionals can use EHR data to conduct research that drives impactful changes in patient care and service delivery. By highlighting key applications and identifying areas for future exploration, this paper argues that EHR-based research represents not only a practical solution to current challenges but also the future of genetic counseling inquiry. This approach promises to unlock new opportunities to measure and enhance the effectiveness, equity, and accessibility of genetic counseling services.
随着医疗保健领域接纳学习型健康系统，以数据为导向的方法为遗传咨询师提供了一条途径，使其能够通过基于证据的见解积极为改善临床护理做出贡献。遗传咨询中由信息学驱动的电子健康记录（EHR）数据查询有潜力推动临床实践、质量改进和研究。本文探讨了在遗传咨询中利用EHR数据相关的机遇与挑战，重点关注实际、协作和面向未来的应用。专注于确定遗传服务合格患者、评估获取和使用模式以及评估基因检测结果的质量改进举措是开展研究的自然切入点。在此，我们展示了遗传咨询专业人员如何利用EHR数据进行研究，从而推动患者护理和服务提供方面的重大变革。通过突出关键应用并确定未来探索领域，本文认为基于EHR的研究不仅是应对当前挑战的切实解决方案，也是遗传咨询探究的未来方向。这种方法有望带来新的机遇，以衡量和提高遗传咨询服务的有效性、公平性和可及性。
