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Genetic predisposition is reason to screen, new guidelines say

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Doctors should refer only those women whose family history suggests that they might be susceptible to breast or ovarian cancer for genetic counseling and testing, say guidelines out today from an independent, government-sponsored panel.

About one in 50 U.S. women have such a family history, according to the U.S. Preventive Services Task Force's new recommendations on testing for mutations in BRCA1 or BRCA2 -- so-called breast cancer genes that also raise ovarian cancer risk.

This is the task force's first set of guidelines on genetic testing.

The panel focused on BRCA testing because, although the technology has been widely available for a number of years, "there was confusion on the part of providers (doctors) and patients about who should get the test," says panel chair Bruce Calonge, chief medical officer of the Colorado Department of Public Health and Environment.

The confusion stems partly from how the test has been marketed to doctors and genetics counselors, Calonge says.

Only a minority of women whose family history indicates they may be susceptible have actually inherited a BRCA mutation, and not all of them will develop cancer, according to the panel.

In women with such a mutation, the risk of developing breast cancer by age 70 is estimated to be 35% to 84% for breast cancer, 10% to 50% for ovarian cancer.

If a BRCA mutation is found, studies show that women can greatly reduce their cancer risk by having their breasts or ovaries removed, the task force writes in the Annals of Internal Medicine.

But evidence is lacking about whether aggressive screening, including MRI, or drugs that reduce breast cancer risk, such as tamoxifen, actually reduce the chances of dying from breast cancer in women with BRCA mutations.

Further research into screening and managing women at high risk for ovarian cancer is also needed, the task force says.

Routinely referring women who do not have an increased-risk family history for genetic counseling and, possibly, testing "clearly has important psychological, ethical and social implications," although those have not been well described by researchers, according to the panel.

Barbara Brenner, executive director of Breast Cancer Action in San Francisco, says, "This set of recommendations, which looks at all the research that's available, says what we've been saying for a long time: The marketing of genetic testing is far too broad."

In an accompanying editorial, Wylie Burke, a University of Washington School of Medicine ethicist, writes that implementing the new guidelines "would require a concerted effort to change current practice."

Taking a family history has long been considered an important part of a medical evaluation, but few doctors gather the detailed information required by the guidelines, Burke writes.

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