Journal article
Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports
JCO precision oncology, Vol.8(8), e2400301
09/01/2024
DOI: 10.1200/PO.24.00301
PMCID: PMC11404756
PMID: 39259913
Abstract
PURPOSE Tumor next-generation sequencing (NGS) testing identifies possible germline pathogenic variants (PGPVs), creating a dilemma for appropriate recognition, triage, and management. The objective of this study was to determine the clinical utility of an institutional molecular tumor board (MTB) in assessing tumor NGS reports for PGPVs. METHODS Our institutional MTB reviews all NGS reports to provide treatment and further testing recommendations, including genetic counseling referral and consideration of genetic testing (GC/GT). We studied the patients reviewed by the MTB who were recommended for GC/GT to determine the frequency of referral to a GC, germline test completion, rate of pathogenic germline variants (PGVs), factors related to PGVs, and germline conversion rate (GCR). RESULTS Of the 2,355 patients reviewed by the MTB during the study period, 609 (25.9%) had a recommendation for GC/GT. Of the 609 with a GC/GT recommendation, only 181 (29.7%) were referred for GC/GT by their treating physicians, and only 107 (17.6%) completed GT. Of the 107 patients completing GT, 29 (26%) had a confirmed PGV. The only factors significantly associated with PGVs were testing due to a PGPV and higher mean variant allele fraction on the tumor NGS. Only 40 patients with a GC/GT recommendation (14.3%) due to a PGPV completed GT; however, the GCR was 42.5% (n = 17/40). CONCLUSION The MTB review of PGPV is clinically valuable, identifying PGPV in 12% of patients undergoing tumor NGS and a GCR of 42.5%. Rates of GC/GT completion were relatively low due to under-referral by treating physicians. Given the high GCR, the authors encourage institutional algorithms to help increase GC/GT rates for patients found to have PGPV following tumor NGS testing.
Details
- Title: Subtitle
- Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports
- Creators
- Taylor A. Rives - University of KentuckyJames Collard - Markey Cancer CenterNing Li - University of KentuckyDonglin Yan - University of KentuckyCharles S. Dietrich - University of KentuckyRachel W. Miller - University of KentuckyFrederick R. Ueland - University of KentuckyJustine Pickarski - Markey Cancer CenterJill M. Kolesar - University of Kentucky
- Resource Type
- Journal article
- Publication Details
- JCO precision oncology, Vol.8(8), e2400301
- DOI
- 10.1200/PO.24.00301
- PMID
- 39259913
- PMCID
- PMC11404756
- NLM abbreviation
- JCO Precis Oncol
- ISSN
- 2473-4284
- eISSN
- 2473-4284
- Publisher
- LIPPINCOTT WILLIAMS & WILKINS
- Grant note
- National Cancer Institute at the National Institutes of Health, Division of Cancer Epidemiology and Genetics: P30CA177558
Supported by National Cancer Institute at the National Institutes of Health, Division of Cancer Epidemiology and Genetics, grant number P30CA177558, B. Mark Evers and was supported by the Biostatistics and Bioinformatics Shared Resource, the Biospecimen Procurementand Translational Pathology Shared Resources, the Cancer ResearchInformatics Shared Resource and the Oncogenomics Shared Resource
- Language
- English
- Date published
- 09/01/2024
- Academic Unit
- Pharmacy; Pharmaceutical Sciences and Experimental Therapeutics
- Record Identifier
- 9984704760202771
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