Genetic Counseling Using BRCA1-Linked Markers

摘要

The discovery of BRCA1 and BRCA2 mutations has enabled physicians to identify individuals at high risk for breast and ovarian carcinoma in hereditary breast-ovarian (HBOC) cancer families. A crucial question pertains to how to use this powerful genetic knowledge for patient benefit, and what detrimental impact on the psychological state and medical behavior it might create. Four hundred and ninety individuals from 32 ERCA1 and 8 BRCA2 families received DNA-based genetic counseling. Five hundred seventy-nine bloodline relatives participated in Georgetown University's psychological portion of the study. Utilization of genetic testing may be highest among persons who have multiple relatives affected with cancer and have health insurance. Individuals who declined to receive their DNA result were eight times more likely than non-carriers to be depressed at 1-month follow-up and germ-line carriers were six times more likely to be depressed at 1-month follow-up. Thirty-nine percent of women who tested positive stated they would consider prophylactic mastectomies and forty-five percent would consider prophylactic oophorectomies. Insurance discrimination remained a concern for individuals who received their test results. We emphasize education of family members in HBOC families, legislative protection of genetic information, and mandatory genetic counseling for individuals who undergo BRCA1/ 2 testing.