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PHILADELPHIA - Primary care physicians should carefully assess family history to identify the estimated 2 percent of women who could benefit from testing the so-called "breast cancer genes," according to new guidelines from the U.S. Preventive Services Task Force.
Mutations in BRCA1 or BRCA2 increase susceptibility to both breast and ovarian cancer. However, BRCA genetic testing, which became available a decade ago, has limitations and risks.
The task force - an independent, expert panel convened by the government to evaluate preventive health measures - recommends that women with high-risk family histories be referred for genetic counseling to help them decide whether to have the $3,000 test.
Currently, health plans cover the test for appropriate patients, but counseling is not routinely covered.
"I think now that there's a positive recommendation for (counseling) this group of women, policymakers and insurers will have to try to include it," said task force chairman Ned Calonge, the chief medical officer for the Colorado Department of Public Health and Environment.
At Philadelphia's Fox Chase Cancer Center, which charges $170 for three counseling sessions, genetic counselor Hetal R. Sheth said, "I think this highlights the gaps that exist. I would hope this will change coverage" for counseling.
The new guidelines - the task force's first on genetic testing - appear in this week's Annals of Internal Medicine, published by the American College of Physicians.
While the recommendations are similar to existing guidance from medical organizations, they are based on a detailed review of all studies of the BRCA genes.
No studies have shown that BRCA testing reduces cancer incidence or deaths, the panel found.
That is one of the painful realities that women considering testing must understand, experts agree.
"Even among those referred for testing, only a minority will have BRCA mutations, and women with BRCA mutations may decide not to pursue current preventive options because of associated risks or uncertainties," University of Washington genetics expert Wylie Burke said in an Annals editorial.
BRCA mutations account for 5 to 10 percent of all breast and ovarian cancers. But for those with the defective genes, the risks are high: up to an 85 percent chance of breast cancer, and up to a 26 percent chance of ovarian cancer.
Women who wind up with a negative test cannot assume they are safe, because not all harmful mutations have been identified. Amy Dysart, 37, of Yardley, Pa., who was tested at Fox Chase, had a negative result - even though her great-grandmother, grandmother and mother died of breast cancer. Dysart is only a year younger than her mother was when cancer struck.
"I certainly don't regret" getting tested, said Dysart, who has a daughter and another on the way. "I choose to look at the glass as half-full; thank goodness I don't have those mutations. But I still think that there's something going on, or else my family has really, really bad luck."
Women with mutations have limited options. They can have more frequent and extensive screening exams. If they are near menopause, they can take anti-estrogen drugs. Or, they can resort to having healthy breasts and ovaries surgically removed.
Family history is the key to identifying women who should receive genetic counseling, the guidelines say. High-risk women include those with multiple first-degree relatives (mother, sister, daughter) or second-degree relatives (aunt, grandmother, cousin) with histories of breast and ovarian cancers, especially if the relatives were diagnosed at young ages.
Jewish women of Eastern European descent with strong family histories are at especially high risk.
Genetic counselors can calculate exact risk based on family history. But under the guidelines, primary care doctors would gather the initial family information needed to refer a woman for genetic counseling.
Since most physicians don't do that now, the recommendations "may require a concerted effort to change current practice," Burke wrote in the editorial.
The recommendations will be posted on the Web sites of Annals of Internal Medicine, www.annals.org/cgi/content/full/143/5/355, and the Agency for Health Care Research and Quality, www.ahrq.gov/clinic/uspstf/uspsbrgen.htm.
(c) 2005, The Philadelphia Inquirer. Distributed by Knight Ridder/Tribune News Service.