Screening for 185delAG in the Ashkenazim

Area of Science:

• Medical Genetics
• Oncology
• Public Health

Background:

• The BRCA1 185delAG mutation is common in the Ashkenazi Jewish population.
• Genetic testing for hereditary breast and ovarian cancer (HBOC) susceptibility is increasingly available.
• Understanding interest and educational needs is crucial for effective genetic testing programs.

Purpose of the Study:

• To assess interest in genetic testing for the BRCA1 185delAG mutation among Ashkenazi individuals.
• To evaluate the educational effectiveness of group sessions on genetic testing.
• To explore implications and establish guidelines for genetic testing in HBOC.

Main Methods:

• A study involving 333 individuals attending group education sessions.
• Participants categorized by family and personal history of breast/ovarian cancer.
• Pre- and post-education tests assessed knowledge; testing uptake and reasons for acceptance/declination recorded.

Main Results:

• High participation (92%) and testing interest (94%) observed.
• Group education significantly improved participant knowledge.
• Concerns about personal/child risk drove testing requests; health insurance concerns led to declinations.
• Six participants were BRCA1 mutation carriers; seven were BRCA2 mutation carriers. All carriers had relevant family cancer history.

Conclusions:

• Genetic testing for BRCA1/BRCA2 mutations is feasible and educationally effective in the Ashkenazi population.
• Screening for breast and ovarian cancer susceptibility is most appropriate for individuals with a positive personal or family cancer history.
• Proposed guidelines can help identify individuals who may benefit from genetic testing for inherited breast and ovarian cancer risk.