Consideration for Multigene Panel Testing Outside of Cancer-Specific Genetic Testing

Area of Science:

• Oncology
• Genetics
• Clinical Research

Background:

• National Comprehensive Cancer Network (NCCN) guidelines aim to identify individuals at high risk for hereditary cancers.
• Assessing the efficacy of these guidelines in detecting pathogenic variants (PVs) is crucial for patient care.
• Multigene panel testing offers a comprehensive approach to genetic cancer risk assessment.

Purpose of the Study:

• To evaluate the performance of NCCN guidelines in identifying patients with cancer-related pathogenic variants (PVs).
• To determine the number of patients with PVs who do not meet current NCCN genetic testing criteria.
• To highlight the utility of multigene panel testing in hereditary cancer assessment.

Main Methods:

• Retrospective review of 116 health records from patients aged 18+ who underwent 84-gene panel testing.
• Analysis of patient data and test results from a hospital's cancer risk assessment clinical database.
• Comparison of identified PVs against NCCN Genetic/Familial High-Risk Assessment guidelines for breast, ovarian, pancreatic, and colorectal cancers.

Main Results:

• 38 participants met NCCN guidelines for hereditary breast cancer testing.
• 24 participants met Lynch syndrome criteria.
• 17 participants had PVs but did not meet any NCCN testing criteria.

Conclusions:

• The study underscores the necessity of multigene panel testing for comprehensive hereditary cancer risk assessment.
• A significant number of patients with PVs were identified who would not have met NCCN guideline criteria for testing.
• Current NCCN guidelines may not capture all individuals with hereditary cancer predispositions, emphasizing the value of broader genetic screening.