SCREENING FOR 185DELAG IN THE ASHKENAZIM

A study was initiated to assess interest, educational effectiveness, a nd implications of genetic testing for the common BRCA1 mutation, 185d elAG, in the Ashkenazim. Of 333 individuals who attended group session s, 309 (92%) participated in the study. Participants were categorized as having negative family history (67%), positive family history (defi ned, by a relaxed criterion, as one first-degree relative or two secon d-degree relatives with breast [premenopausal] or ovarian cancer) (22% ), positive personal history (7%), and both positive personal history and positive family history (4%). Group education was effective, as sh own by the improvement in participant scores from pre- to posteducatio n tests. For the 289 individuals (94%) who requested testing, the majo r reasons included concern for their own risk, concern for the risk of their children, and desire to learn about surveillance options. The m ost common reason given by participants who declined testing was conce rn about health insurance. Six participants found to be heterozygous f or the 185delAG mutation received results and were offered genetic cou nseling, Participants had consented for additional testing without rec eiving results and were screened for the 6174delT mutation in BRCA2, a nd seven were found to be positive. All identified carriers reported a t least one first- or second-degree relative with a history of breast or ovarian cancer, although they did not all meet our study criteria f or positive family history. Given these outcomes, we conclude that scr eening for breast and ovarian cancer susceptibility is most appropriat e for individuals with a positive personal or positive family cancer h istory. We propose a guideline for future studies designed to identify individuals who may benefit from genetic testing for inherited breast and ovarian cancer.