Genetic Testing Utilization: Discrepancies Between Somatic and Germline Results in Patients With Cancer Reviewed at the UW Health Precision Medicine Molecular Tumor Board

Isaac P. Horn; Anna L. Zakas; Kelcy J. Smith-Simmer; Laura E. Birkeland; Rachel Sundstrom; Mark E. Burkard; Jennifer M. Weiss

doi:10.1200/PO.23.00466

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Genetic Testing Utilization: Discrepancies Between Somatic and Germline Results in Patients With Cancer Reviewed at the UW Health Precision Medicine Molecular Tumor Board

Journal article

Peer reviewed

Genetic Testing Utilization: Discrepancies Between Somatic and Germline Results in Patients With Cancer Reviewed at the UW Health Precision Medicine Molecular Tumor Board

Isaac P. Horn, Anna L. Zakas, Kelcy J. Smith-Simmer, Laura E. Birkeland, Rachel Sundstrom, Mark E. Burkard and Jennifer M. Weiss

JCO precision oncology, Vol.8(8), pp.e2300466-e2300466

05/2024

DOI: 10.1200/PO.23.00466

PMCID: PMC12132614

PMID: 38810171

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https://pmc.ncbi.nlm.nih.gov/articles/PMC12132614/pdf/nihms-2079361.pdfView

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Abstract

PURPOSE Somatic and germline testing are increasingly used to estimate risks for patients with cancer. Although both germline testing and somatic testing can identify genetic variants that could change a patient's care and eligible treatments, the aims of these tests and their technologies are fundamentally different and cannot be used interchangeably. This study examines the timing and results of somatic and germline genetic testing for patients with cancer at UW Health. METHODS Eight hundred and seventy-seven participants underwent somatic genetic testing, which was reviewed by the Precision Medicine Molecular Tumor Board (PMMTB). Patients were diagnosed with cancers, including breast, colorectal, endometrial, pancreatic, or ovarian cancer, and met National Comprehensive Cancer Network criteria for germline genetic testing. Germline testing details were collected by medical record review. RESULTS The results of this study found that only 310 patients (35%) had germline evaluation before PMMTB review. The percent of germline pathogenic/likely pathogenic variants identified in actionable genes was 28%. Most germline variants were identified in the BRCA1 (26%) and BRCA2 (28%) genes. In total, 65% (54/83) of germline variants were detected with both germline testing and somatic testing; however, 35% (29/83) of germline variants were not identified on somatic results. These results demonstrate the importance of combination germline and somatic testing. CONCLUSION This study highlights the differences in genetic testing types and demonstrates that conducting germline testing at earlier stages of diagnoses is necessary to identify potentially actionable and treatment-specific variants in patients with cancer. When germline testing and somatic testing overlap and when they do not; how it affects patients with cancer.

Details

Title: Subtitle: Genetic Testing Utilization: Discrepancies Between Somatic and Germline Results in Patients With Cancer Reviewed at the UW Health Precision Medicine Molecular Tumor Board
Creators: Isaac P. Horn - University of Wisconsin School of Medicine and Public Health
Anna L. Zakas - University of Wisconsin School of Medicine and Public Health
Kelcy J. Smith-Simmer - University of Wisconsin School of Medicine and Public Health
Laura E. Birkeland - University of Wisconsin School of Medicine and Public Health
Rachel Sundstrom - University of Wisconsin Carbone Cancer Center
Mark E. Burkard - University of Wisconsin School of Medicine and Public Health
Jennifer M. Weiss - University of Wisconsin School of Medicine and Public Health
Resource Type: Journal article
Publication Details: JCO precision oncology, Vol.8(8), pp.e2300466-e2300466
DOI: 10.1200/PO.23.00466
PMID: 38810171
PMCID: PMC12132614
NLM abbreviation: JCO Precis Oncol
ISSN: 2473-4284
eISSN: 2473-4284
Language: English
Date published: 05/2024
Academic Unit: Internal Medicine
Record Identifier: 9984701259402771

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