Factors associated with decisions about clinical BRCA1/2 testing.

Area of Science:

• Genetics
• Oncology
• Public Health

Background:

• BRCA1 and BRCA2 mutations significantly increase breast and ovarian cancer risk.
• Genetic testing for BRCA1/2 mutations aids in personalized cancer surveillance and prevention strategies.
• Understanding factors influencing BRCA1/2 testing decisions is crucial for effective genetic counseling and risk management.

Purpose of the Study:

• To identify factors associated with decisions regarding clinical BRCA1/2 testing.
• To analyze the uptake of BRCA1/2 testing among women undergoing genetic counseling.

Main Methods:

• Retrospective cohort study of 251 women attending a university-based breast cancer risk assessment clinic.
• Follow-up survey to determine decisions on BRCA1/2 testing (undergone, not undergone, undecided).
• Multivariate analysis to assess factors influencing testing decisions.

Main Results:

• 50% of eligible women underwent or were undergoing BRCA1/2 testing.
• Women with a known familial mutation, Ashkenazi Jewish heritage, and a desire for family risk information were more likely to test.
• Interest in ovarian cancer risk information and lower concern about discrimination were associated with testing.

Conclusions:

• Clinical BRCA1/2 testing is pursued by about half of eligible women after counseling.
• High-risk individuals, particularly those with familial mutations, are more likely to undergo testing.
• Testing decisions are influenced by perceived benefits (risk information) and reduced concerns about potential discrimination.