遗传检测中的挑战和错误：第五个病例系列。

Challenges and Errors in Genetic Testing: The Fifth Case Series.

机构信息

From the My Gene Counsel, LLC, New Haven, CT.

Cleveland Clinic, Cleveland, OH.

出版信息

Cancer J. 2021;27(6):417-422. doi: 10.1097/PPO.0000000000000553.

DOI:10.1097/PPO.0000000000000553

PMID:34904802

Abstract

PURPOSE

In this ongoing case series, 33 genetic testing cases are documented in which tests were recommended, ordered, interpreted, or used incorrectly and/or in which clinicians faced challenges related to history/reports provided by patients or laboratories.

METHODS

An invitation to submit cases of challenges or errors in genetic testing was issued to the general National Society of Genetic Counselors Listserv, the National Society of Genetic Counselors Cancer Special Interest Group members, as part of a case series with Precision Oncology News, and via social media (i.e., Facebook, Twitter, LinkedIn). Deidentified clinical documentation was requested and reviewed when available. Thirty-three cases were submitted, reviewed, and accepted. A thematic analysis was performed. Submitters were asked to approve cases before submission.

RESULTS

All cases took place in the United States, involved hereditary cancer testing and/or findings in cancer predisposition genes, and involved medical-grade genetic testing, direct-to-consumer testing, or research genetic testing. In 9 cases, test results were misinterpreted, leading to incorrect screening or risk-reducing procedures being performed/recommended. In 5 cases, incorrect or unnecessary testing was ordered/recommended. In 3 cases, incorrect clinical diagnoses were made, or opportunities for diagnoses were delayed. In 3 cases, errors or challenges arose related to medical intervention after testing or reported genetic diagnosis. In 2 cases, physicians provided incorrect information related to the inheritance pattern of a syndrome. In 2 cases, there were challenges related to the interpretation of genetic variants. In 2 cases, challenges arose after direct-to-consumer testing. One case involved test results that should never have been reported based on sample quality. In 1 case, a patient presented a falsified test result. In 5 cases, multiple errors were made.

DISCUSSION

As genetic testing continues to become more complicated and common, it is critical that patients and nongenetics providers have access to accurate and timely genetic counseling information. Even as multiple medical bodies highlight the value of genetic counselors (GCs), tension exists in the genomics community as GCs work toward licensure and Medicare provider status. It is critical that health care communities leverage, rather than restrict, the expertise and experience of GCs so that patients can benefit from, and not be harmed by, genetic testing. In order to responsibly democratize genomics, it will be important for genetics and nongenetic health care providers to collaborate and use alternative service delivery models and technology solutions at point of care. To deliver on the promise of precision medicine, accurate resources and tools must be utilized.

摘要

目的

在这个正在进行的案例系列中，记录了 33 个基因检测案例，这些案例涉及测试的推荐、订购、解释或使用不当，以及临床医生在处理患者或实验室提供的病史/报告方面遇到的挑战。

方法

向全国遗传咨询师协会普通列表服务、全国遗传咨询师癌症特别兴趣小组成员发出了提交基因检测挑战或错误案例的邀请，这是与精准肿瘤学新闻合作的案例系列的一部分，并通过社交媒体（即 Facebook、Twitter、LinkedIn）进行了宣传。当有临床文件可用时，请求并审查了匿名文件。提交了 33 个案例，经过审查并被接受。进行了主题分析。在提交之前，要求提交人批准案例。

结果

所有案例均发生在美国，涉及遗传性癌症检测和/或癌症易感性基因发现，并涉及医疗级基因检测、直接面向消费者的检测或研究基因检测。在 9 个案例中，测试结果被错误解释，导致错误的筛查或风险降低程序被执行/推荐。在 5 个案例中，错误或不必要的测试被订购/推荐。在 3 个案例中，出现了错误的临床诊断，或诊断机会被延迟。在 3 个案例中，与检测或报告的遗传诊断后的医疗干预相关的错误或挑战。在 2 个案例中，医生提供了与综合征遗传模式相关的错误信息。在 2 个案例中，与遗传变异的解释有关的挑战。在 2 个案例中，在直接面向消费者的测试后出现了挑战。有 1 个案例涉及基于样本质量本不应该报告的测试结果。在 1 个案例中，患者提供了伪造的测试结果。在 5 个案例中，出现了多个错误。

讨论

随着基因检测变得越来越复杂和普遍，患者和非遗传咨询师获得准确和及时的遗传咨询信息至关重要。即使多个医疗机构强调遗传咨询师（GC）的价值，但在 GC 争取许可和医疗保险提供者地位的同时，基因组学社区仍存在紧张关系。至关重要的是，医疗保健社区利用而不是限制 GC 的专业知识和经验，以便患者能够从基因检测中受益，而不会受到伤害。为了负责任地实现基因组学民主化，遗传学家和非遗传健康护理提供者必须合作，并在护理点使用替代服务交付模式和技术解决方案。为了实现精准医学的承诺，必须利用准确的资源和工具。