From the Department of Pathology and Microbiology, University of Nebraska Medical Center Nebraska Medicine, Omaha (Cushman-Vokoun).
The Breast and Ovarian Cancer Program, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, Maryland (Lauring).
Arch Pathol Lab Med. 2022 Jan 1;146(1):70-77. doi: 10.5858/arpa.2020-0025-CP.
CONTEXT.—: Next-generation sequencing is a powerful clinical tool for cancer management but can produce incidental/secondary findings that require special consideration.
OBJECTIVE.—: To discuss clinical and laboratory issues related to incidental or secondary germline findings in the clinical setting of tumor testing and inform future guidelines in this area.
DESIGN.—: A College of American Pathologists workgroup including representation from the American Society of Clinical Oncology, the Association for Molecular Pathology, and the American College of Medical Genetics and Genomics created a review of items that should be considered when developing guidelines for incidental or secondary findings when performing clinical tumor testing.
RESULTS.—: Testing recommendations should be cognizant of the differences among anticipated incidental, unanticipated incidental, and secondary findings, and whether normal tissue is also tested. In addition to defining which variants will be reported, robust recommendations must also take into account test design and validation, reimbursement, cost, infrastructure, impact on reflex testing, and maintenance of proficiency. Care providers need to consider the potential of a test to uncover incidental or secondary findings, the recommendation of upfront counseling, the need for consent, the timing of testing and counseling, and that the exact significance of a finding may not be clear.
CONCLUSIONS.—: As clinical oncology testing panels have become a mainstay of clinical cancer care, guidelines addressing the unique aspects of incidental and secondary findings in oncology testing are needed. This paper highlights clinical and laboratory considerations with regard to incidental/secondary findings and is a clarion call to create recommendations.
下一代测序是癌症管理的有力临床工具，但可能会产生需要特别考虑的偶然/次要发现。
讨论肿瘤检测临床环境中与偶然或次要种系发现相关的临床和实验室问题，并为该领域的未来指南提供信息。
一个包括美国病理学家学会、美国临床肿瘤学会、分子病理学协会和美国医学遗传学与基因组学学院代表在内的工作组，对在进行临床肿瘤检测时制定偶然或次要发现指南时应考虑的项目进行了回顾。
检测建议应认识到预期偶然发现、意外偶然发现和次要发现之间的差异，以及是否也对正常组织进行检测。除了定义将报告哪些变体外，强有力的建议还必须考虑到测试设计和验证、报销、成本、基础设施、对反射测试的影响以及专业能力的维持。护理提供者需要考虑测试发现偶然或次要发现的可能性、预先咨询的建议、同意的必要性、测试和咨询的时间安排，以及发现的确切意义可能并不明确。
随着临床肿瘤学检测面板已成为临床癌症护理的主要手段，需要制定解决肿瘤学检测中偶然和次要发现独特方面的指南。本文强调了偶然/次要发现的临床和实验室考虑因素，并呼吁制定建议。
