Title
Slice Testing - Considerations from Ordering to Reporting
Authoring Organizations
Publication Month/Year
December 14, 2023
Last Updated Month/Year
January 3, 2024
Document Type
Consensus
Country of Publication
US
Document Objectives
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 utilized to analyze data specific to a set of genes, and for this paper, 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 utilizing slice tests as a diagnostic.
Inclusion Criteria
Male, Female, Adult, Older adult
Health Care Settings
Laboratory services
Intended Users
Genetics, laboratory technician, nurse, nurse practitioner, physician, physician assistant
Scope
Assessment and screening, Management
Keywords
slice testing, exome sequencing, genomic sequencing
Source Citation
Jeffrey A. SoRelle, Birgit H. Funke, Celeste C. Eno, Jianling Ji, Avni Santani, Pinar Bayrak-Toydemir, Megan Wachsmann, Karen E. Wain, Rong Mao, 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, The Journal of Molecular Diagnostics, 2023, ISSN 1525-1578, https://doi.org/10.1016/j.jmoldx.2023.11.008