Obstacles in genetic testing for germline BRCA1/2 pathogenic mutations in patients with primary breast and ovarian cancer in Switzerland

Abstract

Purpose

Approximately 5–10% of breast and up to 25% of ovarian cancer cases are hereditary, predominantly associated with germline BRCA1/2 pathogenic variants. Identifying these mutations is essential for personalized treatment, prevention strategies, and cascade testing in families. However, integrating genetic testing into routine care faces substantial barriers globally and within Switzerland.

Methods

This retrospective, quantitative study analyzed 209 patients treated for non-mucinous ovarian carcinoma or primary breast cancer at the Women’s Cantonal Hospital, Lucerne (2017–2022). All patients met Swiss clinical (SAKK) criteria for genetic testing, and recommendations for counseling were documented. Data were collected via anonymized questionnaires evaluating demographics, counseling experiences, emotional responses, and testing barriers. Statistical analyses examined factors influencing counseling uptake, including timing, referral source, education, and informational resources.

Results

Out of 73 respondents (32.6% response rate), 70 questionnaires were analyzed. Acceptance of genetic counseling was 81.4%. Recommendations by gynecologists significantly enhanced uptake (p = 0.002), especially when provided postoperatively or at diagnosis (p = 0.011). Higher education levels (p = 0.009) and prior informational materials (p = 0.014) positively influenced acceptance. Emotional responses differed, with breast cancer patients reporting more fear, whereas ovarian cancer patients reported greater curiosity. Family involvement supported patient engagement, while perceptions of minimal personal benefit and family disinterest were common reasons for declining.

Conclusion

Timely, well-communicated recommendations and informational resources significantly improve genetic counseling uptake among breast and ovarian cancer patients. Addressing systemic and patient-specific barriers will enhance equitable access, optimize targeted therapies and preventive strategies, and should be supported by national registries, qualitative research, and digital integration.