1. Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
- Author
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SoRelle JA, Funke BH, Eno CC, Ji J, Santani A, Bayrak-Toydemir P, Wachsmann M, Wain KE, and Mao R
- Subjects
- Humans, United States, Pathologists, Surveys and Questionnaires, Pathology, Molecular, Counselors
- Abstract
As the number of genes associated with various germline disorders continues to grow, it is becoming more difficult for clinical laboratories to maintain separate assays for interrogating disease-focused gene panels. One solution to this challenge is termed slice testing, where capture backbone is used to analyze data specific to a set of genes, and for this article, we will focus on exome. A key advantage to this strategy is greater flexibility by adding genes as they become associated with disease or the ability to accommodate specific provider requests. Here, we provide expert consensus recommendations and results from an Association for Molecular Pathology-sponsored survey of clinical laboratories performing exome sequencing to compare a slice testing approach with traditional static gene panels and comprehensive exome analysis. We explore specific considerations for slices, including gene selection, analytic performance, coverage, quality, and interpretation. Our goal is to provide comprehensive guidance for clinical laboratories interested in designing and using slice tests as a diagnostic., Competing Interests: Disclosure Statement To provide active management of potential perceived and/or actual conflicts of interest, a Working Group chair without relevant conflicts was appointed and conflict of interest disclosures were requested from and/or provided by all authors throughout all phases of the consensus manuscript development process. B.H.F. is employed by Sema4 OpCo, Inc. (Stamford, CT). A.S. is employed by Veritas Laboratories (Houston, TX); and holds equity in LetsGetChecked (PrivaPath Diagnostics, New York, NY), Opus Genetics, Inc. (Durham, NC), and Pathfinder Health, Inc. (Seattle, WA). K.E.W. is employed by GeneDx, LLC (Gaithersburg, MD); and is the 2021 chair, Research, Quality, and Outcomes Committee, National Society of Genetic Counselors., (Copyright © 2024 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
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