Errors in Germline Biomarker Testing

Although germline testing seems to be a simple laboratory test, many errors occur that have avoidable adverse consequences for both the patient and family. Errors may occur because of a lack of foundational knowledge in comprehensive risk assessment and on how to order the best test in a laboratory capable of detecting a pathogenic variant as well as how to interpret germline testing results. Increasing the number of genetics professionals, implementing new delivery models, and increasing educational efforts in nongenetics professionals could prevent and decrease errors.

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Publication Details

Journal
The Cancer Journal
Published
2026-03-01
DOI
https://doi.org/10.1097/ppo.0000000000000812
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

Errors in Germline Biomarker Testing

Suzanne M. Mahon, Charlie Owen, Laura McLaughlin, Usa Khemthong
The Cancer Journal
BRCA gene mutations in cancer
article

Errors in Germline Biomarker Testing

Suzanne M. Mahon, Charlie Owen, Laura McLaughlin, Usa Khemthong
article en

Abstract

Although germline testing seems to be a simple laboratory test, many errors occur that have avoidable adverse consequences for both the patient and family. Errors may occur because of a lack of foundational knowledge in comprehensive risk assessment and on how to order the best test in a laboratory capable of detecting a pathogenic variant as well as how to interpret germline testing results. Increasing the number of genetics professionals, implementing new delivery models, and increasing educational efforts in nongenetics professionals could prevent and decrease errors.

The Cancer JournalVol. 32(2)
Chulabhorn Graduate Institute (TH), Saint Louis University Hospital (US), Chulabhorn Hospital (TH), Saint Louis University (US)
Good health and well-being
Openalex Percentile: Top 9%
BRCA gene mutations in cancer
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