Clinical Utility of Universal Germline Genetic Testing for Patients With Breast Cancer

Area of Science:

• Oncology
• Genetics
• Clinical Decision-Making

Background:

• Current National Comprehensive Cancer Network guidelines recommend germline testing for high-risk genes in select breast cancer patients.
• The clinical utility of universal multigene panel testing for all breast cancer patients is under consideration.

Purpose of the Study:

• To examine the implications of universal germline genetic testing for breast cancer patients on clinical decision-making.
• To assess the impact of multigene panel testing on treatment recommendations and patient management.

Main Methods:

• A cohort of breast cancer patients (in-criteria and out-of-criteria based on 2017 guidelines) underwent multigene germline panel testing.
• Clinicians documented clinical information and changes to recommendations based on test findings.
• Data were analyzed to determine the association between germline variants and clinical features, including BRCAPRO scores.

Main Results:

• Germline genetic testing results led to changes in clinical recommendations for a significant proportion of patients, particularly those with pathogenic or likely pathogenic variants.
• Testing was considered beneficial for most patients with pathogenic variants and a notable portion with negative results or variants of uncertain significance.
• No significant difference in variant detection rates was observed between patients meeting and not meeting the BRCAPRO threshold.

Conclusions:

• Germline genetic testing, even for out-of-criteria patients with pathogenic variants, effectively directs treatment.
• Universal germline testing informs clinical decisions, facilitating access to targeted treatments and clinical trials for all breast cancer patients.
• The study supports the clinical utility of universal germline genetic testing in breast cancer management.