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This Week in JAMA: Oct 5, 2011


This week, JAMA contributor Tracy Hampton discusses a new paper in Cancer Epidemiology, Biomarkers & Prevention, in which researchers identify "five inherited genetic variants linked to the most deadly prostate cancers," she says. These variants, Hampton adds, could help "identify patients most likely to benefit from aggressive therapy and help avoid overtreatment of patients whose tumors are likely to remain localized," particularly as the researchers show in their paper that patients "who carried four or all five of the genetic markers had a 50 percent higher risk of dying from their prostate cancer than patients who had two or fewer."

Elsewhere in JAMA, Duke University Medical Center's Adam Buchanan and the University of Pennsylvania's Jill Stopfer comment on Nadine Tung's May 2011 piece, "Management of Women With BRCA Mutations," in which she suggested the importance of compensating hospitals and physicians working with trained genetic counselors. In their correspondence, Buchanan and Stopfer propose "reframing the question from compensation of hospitals and physicians to determining how genetic counselors — many of whom are licensed to practice independently — could be reimbursed in a manner that is in the best interests of patients, clinicians, and health care systems." The authors suggest that "any truly useful calculation of the institutional value of genetic counseling programs must include a careful study of the 'downstream revenue' institutions receive from performing surveillance, prophylactic surgery, or cancer treatment for individuals with BRCA mutations."

In response to Buchanan and Stopfer's comments, Tung says "even if genetic counselors are recognized as providers, the unavoidable truth is that genetic counseling is time and labor intensive by nature and reimbursement is not commensurate with the required time expended," adding that calculating institutional profits from downstream revenue, as the authors have suggested, would require "careful record keeping, and the benefit of such potential future earnings is not always appreciated in the face of ever-shrinking hospital resources."

The Scan

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A Y chromosome-based analysis suggests South America may have first been settled more than 18,000 years ago, according to a new PLOS One study.

New Insights Into TP53-Driven Cancer

Researchers examine in Nature how TP53 mutations arise and spark tumor development.

Mapping Single-Cell Genomic, Transcriptomic Landscapes of Colorectal Cancer

In Genome Medicine, researchers present a map of single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer.

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.