Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Medicine, Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, IN, USA.
J Genet Couns. 2022 Apr;31(2):479-488. doi: 10.1002/jgc4.1514. Epub 2021 Sep 27.
For the past two decades, the guidelines put forth by the American College of Medical Genetics and Genomics (ACMG) detailing providers' clinical responsibility to recontact patients have remained mostly unchanged, despite evolving variant interpretation practices which have yielded substantial rates of reclassification and amended reports. In fact, there is little information regarding genetic counselors' roles in informing patients of reclassified variants, or the process by which these amended reports are currently being handled. In this study, we developed a survey to measure current experiences with amended variant reports and preferences for ideal management, which was completed by 96 genetic counselors from the United States and Canada. All respondents indicated they were the individuals responsible for disclosing initial positive genetic testing results and any clinically actionable reclassified variant reports, and over half (56%) received at least a few amended variant reports each year. Nearly a quarter (20/87) of respondents reported having a standard operating procedure (SOP) for managing amended reports and all were very satisfied (12/20) or satisfied (8/20) with the SOP. Of those without a protocol, 76% (51/67) would prefer to have an SOP implemented. Respondents reported a preference for (1) laboratories to send amended variant reports directly to the genetic counselor or ordering physician through email or an online portal, and (2) notification to patients ideally occurring through a phone call. In the event that the original genetic counselor is inaccessible, respondents reported a preference for reports to be sent directly to another genetic counselor (36%) on the team or the clinic in general (27%). Information from this study provides insight into the current practices of genetic counselors as applied to amended reports and what improvements may increase the efficiency of the reporting process. Moreover, these results suggest a need for an updated statement addressing duty to recontact, specifically as it applies to amended variant reports.
在过去的二十年中，尽管变异解读实践不断发展，导致大量重新分类和修改报告，但美国医学遗传学与基因组学学院 (ACMG) 提出的详细规定临床医生重新联系患者的责任的准则基本保持不变。实际上，关于遗传咨询师在告知患者重新分类的变异方面的作用，或目前处理这些修改报告的流程的信息很少。在这项研究中，我们开发了一项调查来衡量当前修改后的变异报告的经验和理想管理的偏好，该调查由来自美国和加拿大的 96 名遗传咨询师完成。所有受访者都表示，他们负责披露初始阳性遗传检测结果和任何具有临床可操作性的重新分类的变异报告，并且超过一半（56%）每年都会收到至少几个修改后的变异报告。近四分之一（20/87）的受访者报告说有管理修改报告的标准操作程序（SOP），并且所有人都非常满意（12/20）或满意（8/20）SOP。在没有协议的情况下，76%（51/67）的人希望实施 SOP。受访者表示倾向于（1）实验室通过电子邮件或在线门户将修改后的变异报告直接发送给遗传咨询师或开单医生，以及（2）理想情况下通过电话通知患者。如果原始遗传咨询师无法联系，受访者报告说倾向于将报告直接发送给团队中的另一位遗传咨询师（36%）或诊所（27%）。这项研究的结果提供了遗传咨询师在修改报告方面的当前实践以及可能提高报告流程效率的改进措施的见解。此外，这些结果表明需要更新一份说明，具体说明重新联系的责任，特别是在涉及修改后的变异报告时。
