Panel Clarifies Brca Screening Recommendations

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Panel clarifies BRCA screening recommendations

A new statement from the US Preventive Services Task Force recommends against routine testing for mutations in the BRCA1 and BRCA2 genes linked to breast and ovarian cancer unless women have a suggestive family history.

In women without a family history, the harm that could result from counseling or genetic testing is likely to outweigh the benefits, the panelists say.

They advocate that genetic testing be restricted to women with a positive personal or family history only after they have undergone genetic counseling. Genetic counseling, in turn, allows informed decision-making about testing and preventative treatment.

These recommendations, published in the Annals of Internal Medicine, come from Dr. Heidi D. Nelson, at Oregon Health and Science University in Portland, and her colleagues.

According to the Task Force, family history patterns that would warrant genetic counseling include:

two first-degree relatives with breast cancer, one of whom was diagnosed at age 50 or younger

three or more first- or second-degree relatives with breast cancer

breast and ovarian cancer among first- and second-degree relatives

one first-degree relative with cancer in both breasts

two or more first- or second-degree relatives with ovarian cancer

one first- or second-degree relative with breast and ovarian cancer

a history of breast cancer in a male relative

a woman of Ashkenazi Jewish descent with any first- or second-degree relative with breast or ovarian cancer.

In their paper, Nelson's group says that "risk assessment, genetic counseling, and mutation testing did not cause adverse psychological outcomes, and counseling improved distress and risk perception in the highly selected populations studied."

Risk assessment includes information about various options for at-risk women. For example, studies have shown greatly reduced risk of cancer after preemptive mastectomy and ovary removal. However, the researchers point out that surgical complications are common and there are no reports regarding reductions in mortality or improvements in quality of life after prophylactic surgery.

Similarly, there are pros and cons to tamoxifen therapy. Studies revealed reduced risk of certain types of breast cancer, but these benefits were associated with increased risk of blood-clot complications and endometrial cancer.

In a related commentary by Dr. Wylie Burke, from the University of Washington in Seattle, notes that "the latest US Preventive Services Task Force report and recommendations will provide invaluable assistance to clinicians seeking to help patients" who are considering BRCA testing.

SOURCE: Annals of Internal Medicine, September 6, 2005.

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