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Family-based risk assessment could help identify at-risk individuals

Friday, November 19, 2010 (Last Updated: 11/22/2010)

FRIDAY, Nov. 19 (HealthDay News) -- Screening unaffected individuals through demographic and family histories to determine who should be offered genetic testing for Lynch syndrome mutations may be a cost-effective approach to identifying people at higher risk for endometrial and colorectal cancer, according to research published online Nov. 18 in Cancer Prevention Research.

Tuan A. Dinh, Ph.D., of Archimedes Inc. in San Francisco, and colleagues generated a mathematical model to determine if widespread screening of unaffected individuals for demographic and family history profiles, then offering genetic testing to those more at risk, is cost-effective.

The researchers found that when family history-based risk was assessed in individuals at 25, 30, or 35 years of age followed by genetic testing of individuals whose risk was greater than 5 percent, endometrial and colorectal cancers could be reduced by 8.8 and 12.4 percent, respectively. This resulted in an increase of quality-adjusted life-years (QALY) by about 135 and an average cost-effectiveness ratio of $26,000 per QALY.

"These results suggest that primary screening of individuals for mismatch repair gene mutations, starting with risk assessment between the ages of 25 and 35, followed by genetic testing of those whose risk exceeds 5 percent, is a strategy that could improve health outcomes in a cost-effective manner relative to current practice," the authors write.

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Specialties Otolaryngology
Family Practice
Internal Medicine

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