Platt Dylan M, Blout Zawatsky Carrie L, Christensen Kurt D, Green Robert C, Hajek Catherine, Hickingbotham Madison R, Hutchinson Allison M, LeBlanc Jessica L, Zoltick Emilie S, Jamal Leila
Sanford Health Imagenetics, Sioux Falls, SD, USA.
Augustana University, Sioux Falls, SD, USA.
Health Educ Behav. 2025 Feb;52(1):28-37. doi: 10.1177/10901981241266849. Epub 2024 Jul 30.
Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide medication management and screen for medically actionable disease predispositions are emerging in a number of health systems. Primary care providers (PCPs) are at the forefront of test initiation, patient education, and management of EGT results. However, little research has examined the experiences of PCPs in health systems offering clinical EGT. We conducted semi-structured interviews, a sub-study of the larger mixed-methods Imagenetics Initiative, with 16 PCPs at a health system in the Midwest with a clinical EGT program supported by provider education, automated clinical decision support, and enhanced access to genetic specialists. The purpose of these interviews was to understand perceptions about the benefits and barriers of implementing EGT in clinical practice. Thematic analysis indicated that EGT is conceptualized similar to traditional diagnostic services. PCPs were generally favorable toward EGT; however, targeted education did not dispel misconceptions about the goals, results, and limitations of EGT. Most PCPs endorsed the potential utility of EGT. Pharmacogenomic profiling was seen as having more immediate impact for patients than screening for monogenic disease risks. PCPs reported that they weighed discussions about EGT against time limitations and the need to prioritize patients' existing health concerns. Regardless of their education levels and familiarity with genetics, PCPs desired additional educational resources and greater access to genetic specialists. Our study provides unique insight into PCPs' experiences with clinical EGT in health systems that have adopted EGT and highlights the practical challenges and potential opportunities of EGT integration.
一些医疗系统中正在出现提供药物基因组学信息以指导药物管理并筛查具有医学可干预疾病易感性的选择性基因检测(EGT)项目。初级保健提供者(PCP)处于EGT检测启动、患者教育及EGT结果管理的前沿。然而,很少有研究考察过PCP在提供临床EGT的医疗系统中的经历。我们进行了半结构化访谈,这是规模更大的混合方法影像遗传学倡议的一项子研究,访谈对象是美国中西部一个医疗系统中的16名PCP,该医疗系统有一个临床EGT项目,该项目得到了提供者教育、自动化临床决策支持以及更多获得基因专家服务机会的支持。这些访谈的目的是了解对在临床实践中实施EGT的益处和障碍的看法。主题分析表明,EGT的概念与传统诊断服务类似。PCP总体上对EGT持赞成态度;然而,有针对性的教育并未消除对EGT的目标、结果及局限性的误解。大多数PCP认可EGT的潜在效用。药物基因组学分析被认为对患者的影响比筛查单基因疾病风险更为直接。PCP报告称他们在讨论EGT时会权衡时间限制以及优先处理患者现有健康问题的必要性。无论其教育水平和对遗传学的熟悉程度如何,PCP都希望获得更多教育资源并能更多地接触到基因专家。我们的研究为采用EGT的医疗系统中PCP的临床EGT经历提供了独特见解,并突出了EGT整合的实际挑战和潜在机遇。