Lowe Chenery, Duncan Laura, Morris Victoria, Anderson Katherine, Dratch Laynie, Mathews Debra J H
Center for Biomedical Ethics, Department of Pediatrics, Stanford University, Stanford, California, USA.
Center for Individualized Medicine, Mayo Clinic, Jacksonville, Florida, USA.
J Genet Couns. 2025 Jun;34(3):e70005. doi: 10.1002/jgc4.70005.
The 21st Century Cures Act Final Rule (Final Rule) increases patient access to their health records but raises concerns about distress and misunderstanding of automatically released results and documentation. Little is known about genetic counselors' (GCs') experiences with the Final Rule. In Fall 2023, we conducted a cross-sectional survey of US GCs about the Final Rule's perceived impact on practice and assessed if being the ordering versus non-ordering provider for genetic testing affected perceptions of Final Rule-related changes. GCs (n = 102) reported demographic and workplace characteristics, institutional policy changes, workflow changes, and perceived patient harms and benefits due to the Final Rule. To compare ordering and non-ordering providers, we conducted Fisher's exact tests for categorical variables and trend tests for ordinal variables. Open-response questions elicited examples of positive and negative patient impacts, the effects of patient characteristics, and practice changes in response to the Final Rule. Twenty-seven GCs were ordering providers and 66 were non-ordering providers. Relative to ordering providers, non-ordering providers expressed stronger agreement with statements indicating concern about the emotional impact on patients reviewing results or notes without support (p = 0.002, 33% vs. 51% strongly agree), patients misunderstanding or misinterpreting results (p = 0.025, 44% vs. 70% strongly agree), and patients contacting the inappropriate party to discuss results (p = 0.023, 19% vs. 48% strongly agree). Agreement with the statement "patients have more knowledge/context/questions at our disclosure session due to previous results review" also differed by ordering provider status (p = 0.007). In open responses, GCs expressed concerns about patients' strong emotional reactions, patients misinterpreting results, workflow disruptions, and widening health disparities. Benefits included patients' ability to be reassured, informed, or empowered earlier; ease of sharing health information; more efficient workflow due to the automatic release of results. These results emphasize the importance of clear communication within health systems and between patients and providers.
《21世纪治愈法案最终规则》(最终规则)增加了患者获取其健康记录的机会,但引发了人们对自动发布的结果和文件可能造成的困扰及误解的担忧。关于遗传咨询师(GCs)在最终规则方面的经历,我们所知甚少。2023年秋季,我们对美国的遗传咨询师就最终规则对其实践的感知影响进行了一项横断面调查,并评估了作为基因检测的开单提供者与非开单提供者是否会影响对与最终规则相关变化的看法。102名遗传咨询师报告了人口统计学和工作场所特征、机构政策变化、工作流程变化以及最终规则对患者造成的感知危害和益处。为了比较开单和非开单提供者,我们对分类变量进行了费舍尔精确检验,对有序变量进行了趋势检验。开放性问题引出了患者积极和消极影响的例子、患者特征的影响以及因最终规则而产生的实践变化。27名遗传咨询师是开单提供者,66名是非开单提供者。与开单提供者相比,非开单提供者对以下陈述表示出更强的认同:担心患者在没有支持的情况下查看结果或记录会受到情绪影响(p = 0.002,强烈认同的比例分别为33%和51%)、患者误解或错误解读结果(p = 0.025,强烈认同的比例分别为44%和70%)、患者联系不适当的一方讨论结果(p = 0.023,强烈认同的比例分别为19%和48%)。对“由于之前查看过结果,患者在我们的信息披露环节有更多知识/背景/问题”这一陈述的认同度也因开单提供者身份而异(p = 0.007)。在开放性回答中。遗传咨询师表达了对患者强烈情绪反应、患者错误解读结果、工作流程中断以及健康差距扩大的担忧。益处包括患者能够更早地得到安慰、了解情况或获得权力;便于分享健康信息;由于结果自动发布,工作流程更高效。这些结果强调了卫生系统内部以及患者与提供者之间进行清晰沟通的重要性。