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This Week in NEJM: Dec 1, 2011

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This week in NEJM, Brigham and Women's Hospital's Sarah Feldman offers her interpretation of the new cervical cancer screening guidelines put out by the American College of Obstetricians and Gynecologists, the American Cancer Society, the US Preventive Services Task Force, the American Society for Colposcopy and Cervical Pathology, and the American Society for Clinical Pathology. Though there is some disagreement among these organizations, the guidelines have many points of agreement, Feldman says, and this offers the medical establishment an opportunity to construct and maintain a "high-quality cervical-cancer prevention program that also safely addresses cost concerns." For instance, as cervical cancer is rare before the age of 20, screening can begin at 21 for average-risk women, and there is general agreement that low-risk women with no history of cancer can stop screening at age 65. "We need to use and understand actual data about risk and the long-term effects and costs of various strategies," Feldman says, adding, "Even with the best consensus guidelines, some clinical judgment and personalized attention to each patient remains necessary."

Also in NEJM, the University of New Mexico's Richard Hoffman presents the case of a 50-year-old, non-Hispanic white man who goes to his doctor asking about prostate cancer screening. Given that the man has no family history of prostate cancer and no symptoms, Hoffman asks if the patient should undergo screening that could prove both painful and ultimately useless. There could be a benefit in the potential to detect cancer as early as possible, but the most important thing, Hoffman says, is that men receive support in making decisions about screening. Too often, he adds, PSA screening is performed without any discussion. "Men undergoing regular PSA screening are much more likely than unscreened men to receive a diagnosis of prostate cancer," Hoffman says. "However, a substantial proportion of PSA-detected prostate cancers are considered to be overdiagnosed." The anonymous patient Hoffman describes should be "engaged in a shared decision-making process that elicits his values and preferences for the potential consequences of testing."

The Scan

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.

Computational Tool Predicts Mammalian Messenger RNA Degradation Rates

A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports.

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.