Perception of Family Genetic Testing for Hereditary Breast and Ovarian Cancer: A Survey of Patients and General Public.

BACKGROUND

Family genetic testing facilitates early cancer diagnosis and prevention for relatives of individuals carrying Breast Cancer Susceptibility Genes 1 and 2 (BRCA1/2) pathogenic variants. This study evaluates perceptions of family genetic testing among Korean cancer patients and the general public, providing foundational data to guide strategies for implementation.

METHODS

A total of 186 participants (86 patients with cancer and 100 public controls) were educated on hereditary breast and ovarian cancer and family genetic testing via a presentation video accessed through QR codes or smartphone links. Afterward, participants completed a 10-question knowledge test, and perceptions were assessed using a questionnaire featuring a hypothetical BRCA1/2 patient scenario to explore general characteristics and attitudes toward family genetic testing.

RESULTS

Post-education, knowledge scores were significantly higher in the patient group than in the controls (median: 10 vs. 9, P = 0.040). Overall, 54.6% of participants shared their genetic test results, with patients sharing more frequently than controls (59.6% vs. 50.0%, P < 0.001). First-degree relatives were the most common recipients (patients: 81.0%, controls: 76.9%, P = 0.163). Results were shared to inform relatives of cancer risks and encourage prevention, while weak familial relationships were cited as barriers. Face-to-face communication was the preferred sharing method. Most participants (75.8%) believed genetic results should be shared with children once they turn 19.

CONCLUSION

Promoting family genetic testing requires effective communication and dissemination of accurate information. Developing systematic genetic counseling programs is essential to achieving these objectives.