Receiving a Pathogenic Variant in a Population Breast Cancer Screening Trial: A Mixed Method Study

Area of Science:

• Genetics
• Oncology
• Public Health

Background:

• Risk-based breast cancer screening is crucial for reducing high morbidity and mortality.
• The Women Informed to Screen Depending on Measures of Risk (WISDOM) trial investigated participant experiences with genomic results.

Purpose of the Study:

• To examine the experiences of WISDOM trial participants who received pathogenic variants in breast cancer genes.
• To understand participant preparedness, result sharing, and cascade testing following genomic risk assessment.

Main Methods:

• Surveys were administered immediately post-disclosure (n=181) and one year later.
• Qualitative interviews (n=42) were conducted at two time points (2-4 weeks and 6 months).
• Statistical comparisons were made between risk groups; qualitative data elaborated on survey findings.

Main Results:

• 66.3% felt prepared for genomic results; 80.7% shared results with relatives initially, rising to 88.4% by T2.
• Reasons for sharing included providing information and encouraging cascade testing.
• High-risk participants showed increased communication with relatives, providers, and higher rates of cascade testing.

Conclusions:

• Most participants shared results with family and providers, aligning with risk levels.
• Challenges remain in preparing individuals for pathogenic results and ensuring accessible follow-up care.
• Facilitating genetic counseling and cascade testing is essential within population risk-based screening programs.