What's new Only 2 percent of U.S. women have family histories of breast and ovarian cancer that should lead them to genetic counseling and testing for the BRCA1 and BRCA2 genetic mutations that may predispose them to those cancers. That's the new recommendation of the U.S. Preventive Services Task Force, an independent panel of experts whose research sets the standard for preventive care. The advice may disproportionately affect women of Ashkenazi (mostly East European) Jewish descent.
Women of Ashkenazi Jewish descent are at increased risk for the mutations. The Task Force estimates the incidence of the genetic mutations in the general population at between .2 and .3 percent; for Jewish women, the estimate is 1.9 percent.
For Jewish women, a suspect family history that would qualify them for testing includes any first-degree relative (for example, a mother, sister or daughter) with either disease or two second-degree relatives (for example, a grandmother or an aunt) on the same side of the family with either disease. For other women, more cases in the immediate family are needed to put them at higher risk. One example: having two first-degree relatives with breast cancer, one of whom was diagnosed at 50 or younger. For others, see the guidelines at www.ahrq.gov/clinic/uspstf05/brcagen/brcagenrs.htm#clinical.
What's changed Task Force chairman Bruce Calonge says the recommendations are "not very far afield from what medical geneticists and genetic counselors are already doing." But the formalization of standards, he said, could result in more women being referred for testing by doctors. This is the first time the Task Force has weighed in on the advisability of genetic testing for any disease. Not all women with BRCA gene changes will develop breast or ovarian cancer, the Task Force notes.
What's at risk Testing can present patients with a tough choice: For those with BRCA mutations, the only currently proven preventive treatment is surgical removal of the breasts or ovaries.
-- Nellie Bristol