AN INEVITABLE DILEMMA - PRENATAL TESTING FOR MUTATIONS IN THE BRCA1 BREAST OVARIAN-CANCER SUSCEPTIBILITY GENE

The BRCA1 breast-ovarian cancer susceptibility gene was identified rec ently. Germline mutations in BRCA1 may be responsible for as many as 5 % of breast and ovarian cancers. Inherited alterations confer up to a 94% risk of developing breast and/or ovarian cancer by age 70. With th e discovery of BRCA1, there will be a heavy demand for genetic testing . Because of the large size of the gene and the distribution of report ed mutations, scientists face considerable technical problems in devel oping widely available screening tests; clinicians will face even grea ter ethical problems in applying them. In the context of research prog rams, women with BRCA1 mutations are already being identified, and the ir physicians are confronted with a number of complex medical, ethical , legal, and social issues. Obstetricians will be faced with counselin g parents regarding prenatal testing for specific BRCA1 mutations. Alt hough it is difficult to formulate straightforward guidelines regardin g prenatal BRCA1 testing, clinicians and health care providers must be familiar with the nuances of the debate so that these issues can be d iscussed wisely with patients. As with many ethically challenging prob lems in medicine, individual clinicians and their patients will have t o work together to determine the course of action with which they are most comfortable. Although elective termination of a pregnancy with a germline mutation in BRCA1 is an option, experience with other adult-o nset diseases suggests that only a minority of parents will choose thi s option.