Previous medical professional society guidelines for Lynch syndrome testing have focused primarily on testing patients after they have had cancer. The present study was designed to determine if it would be more medically and cost effective to identify patients carrying mutations before they have cancer.
"Genetic testing was always assumed to be cost effective for those at very high risk based on their family history, but this shows it would be cost effective in a wider population, similar to the cost effectiveness of mammography," said Stephen Gruber, MD, PhD, MPH, Director for Cancer Prevention and Control at the University of Michigan Comprehensive Cancer Center, and a lead researcher on the study.
Dr. Gruber and colleagues used a mathematical model to determine the medical and cost effectiveness of colorectal cancer genetic screening based on a simple family history. The study determined that the average cost effectiveness ratio, a measure of expenditure per life year gained by genetic testing, would be $26,000, significantly less expensive than the often-quoted benchmark of $50,000.
The study further suggested that risk-assessment should begin between the ages of 25 and 35, and that genetic testing would be appropriate for those individuals whose mutation risk is 5% or greater. The study estimated that approximately 1% of the US population over the age of 25, or 2.0 million Americans, would meet this criteria.
AACR President-elect Judy Garber, MD, MPH, Director of the Center for Cancer Genetics and Prevention at the Dana-Farber Cancer Institute, hosted a conference call discussing the results of the study.
"This will affect a wide population by changing our thinking about risk for colon cancer," said Dr. Garber. "It is a huge step forward in terms of bringing the benefits of cancer genetics to the broader population using tests that have, in the past, been considered too expensive."