Identification of Patients at Elevated Cancer Risk through a Community-Based Genetic Testing Program

Area of Science:

• Oncology
• Genetics
• Public Health

Background:

• Limited access to genetic screening for hereditary cancers exists despite National Comprehensive Cancer Network (NCCN) guidelines.
• Community-based programs can enhance screening accessibility and identify at-risk individuals.

Purpose of the Study:

• To evaluate the effectiveness of a community hospital's genetic screening program for hereditary cancers.
• To identify individuals with pathogenic/likely pathogenic (P/LP) variants and assess potential changes in cancer screening and surgical recommendations.

Main Methods:

• Retrospective review of women undergoing mammography and genetic testing (August 2020 - May 2023).
• Analysis of genetic testing results for P/LP variants.
• Application of NCCN guidelines to determine cancer screening and surgical recommendations for positive cases.

Main Results:

• 3,224 of 14,192 women (23%) met NCCN criteria; 50.3% opted for testing.
• 7.6% tested positive for P/LP variants across 18 genes, with CHEK2 and MUTYH being most prevalent.
• Positive results indicated increased risk for breast (52%), colon (45%), ovarian (31%), and other cancers, prompting potential changes in screening (e.g., earlier mammograms, colonoscopies) and surgery recommendations.

Conclusions:

• Community-based genetic programs effectively identify individuals with increased hereditary cancer risk.
• These programs facilitate timely interventions, including enhanced screening and risk-reducing surgeries, to potentially decrease cancer morbidity and mortality.