在过去的二十年里,美国医学遗传学和基因组学学院(ACMG)提出的指南详细说明了提供者重新联系患者的临床责任,尽管不断发展的变体解释做法产生了很大的重新分类和修订报告率。事实上,关于遗传咨询师在告知患者重新分类的变异中的作用的信息很少,或目前处理这些修订报告的过程。在这项研究中,我们开发了一项调查,通过修改后的变体报告和对理想管理的偏好来衡量当前的经验,由来自美国和加拿大的96名遗传咨询师完成。所有受访者表示,他们是负责披露初始阳性基因检测结果和任何临床可操作的重新分类变异报告的个人,超过一半(56%)每年至少收到一些修订的变体报告。近四分之一(20/87)的受访者表示有一个标准操作程序(SOP)来管理修订后的报告,所有人都对SOP非常满意(12/20)或满意(8/20)。在那些没有协议的人中,76%(51/67)希望实施SOP。受访者表示,他们倾向于(1)实验室通过电子邮件或在线门户直接向遗传咨询师或订购医生发送修改后的变异报告,和(2)通知患者理想地发生通过电话。如果原始遗传咨询师无法访问,受访者表示倾向于将报告直接发送给团队或一般诊所的另一位遗传咨询师(36%)(27%).来自这项研究的信息提供了对遗传咨询师应用于修订报告的当前实践的见解,以及哪些改进可以提高报告过程的效率。此外,这些结果表明需要一份更新的声明,解决重新联系的责任,特别适用于修订后的变体报告。
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.