Laboratory and Clinical Implications of Incidental and Secondary Germline Findings during Tumor Testing

Allison Cushman-Vokoun, Josh Lauring, John Pfeifer, Damon R. Olson, Anna Berry, John Thorson, Karl Voelkerding, Jonathan Myles, James Barbeau, Pranil Chandra, Marilyn Li, Gail H. Vance, Brad W. Jensen, Molly Y. Hansen, Sophia Yohe

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)70-77
Number of pages8
JournalArchives of Pathology and Laboratory Medicine
Volume146
Issue number1
DOIs
StatePublished - Jan 2022

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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