Highlights
- •Most patients with a BRCA pathogenic variant and associated cancer underwent genetic testing following a cancer diagnosis.
- •73% of these patients also met criteria by family history and may have qualified for earlier genetic testing.
- •Early identification of patients at high risk for pathogenic variants is critical in improving cancer risk-reduction.
Abstract
Objective
The objective of this study was to determine the proportion of patients meeting the
National Comprehensive Cancer Network (NCCN)’s BRCA genetic testing criteria prior
to a diagnosis of a BRCA-related cancer.
Methods
This was a cross-sectional study of patients with BRCA pathogenic variants and a diagnosis
of a BRCA-related cancer. Patients were included if they had known dates of genetic testing
and cancer diagnosis. NCCN criteria (version 2.2021) were applied to determine if
patients met criteria for testing before a BRCA-related cancer diagnosis. The outcome
of interest was the proportion of patients undergoing genetic testing following a
diagnosis of a BRCA-related cancer who qualified for genetic testing based on NCCN
criteria. Chi-square, Mann-Whitney U test, and logistic regression were performed with significance at p < 0.05.
Results
Of 270 patients with a BRCA-related cancer, 229 (85%) underwent genetic testing after
a cancer diagnosis. Most patients (97%) met at least one NCCN criteria for BRCA testing;
166 (73%) of patients who were tested following a BRCA-related cancer diagnosis also
met the criteria for testing by family history. Publicly insured or uninsured patients
were three times more likely to undergo BRCA testing after a diagnosis of cancer (odds
ratio [OR] 3.03, 95% confidence interval [CI] 1.09–8.40). Patients with a family history
of pathogenic variants were more likely to undergo testing before a cancer diagnosis
(OR 0.10, 95% CI 0.05–0.23).
Conclusion
Most patients with BRCA-associated cancers undergo genetic testing after their cancer
diagnosis. Increased education on genetic testing criteria and novel methods to improve
testing are desperately needed.
Keywords
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Article info
Publication history
Published online: January 05, 2023
Accepted:
December 25,
2022
Received in revised form:
December 23,
2022
Received:
October 30,
2022
Identification
Copyright
© 2022 Published by Elsevier Inc.
