Nov. 19--A new study has researchers calling for widespread screening for genetic mutations that greatly increase the risk of colorectal cancer.
The screening, with an initial cost of about $2,600, is cost-effective on par with mammography, researchers report in the journal Cancer Prevention Research.
About one in 370 Americans has Lynch syndrome, which predisposes people to endometrial cancer as well, and one in 35 colorectal-cancer patients is positive for the syndrome, said Heather Hampel, a genetic counselor and associate director of the Ohio State University Medical Center's division of human genetics.
Fewer than 2 percent of Americans who have the syndrome are aware of it, said Hampel, who has been heavily involved in research on it.
Doctors should assess risks based on family history and other factors and test those whose chance of having the syndrome exceeds 5percent, said Dr. Stephen Gruber of the University of Michigan, who worked on the study.
Risk-assessment tools take a couple of minutes to fill out and can be found online.
A computer model that looked at 100,000 simulated individuals found that the average cost-effectiveness ratio, a measure of expenses per life year gained, would be $26,000, well below a common benchmark of $50,000.
Risk assessment and subsequent screening of young adults could reduce colon-cancer incidence in those with mutations by 12.4 percent and endometrial cancer by 8.8 percent, the researchers found.
Ohio State has played a key role in investigating the syndrome and has pushed for routine testing of colon-cancer patients. Testing someone who already has cancer for the syndrome could help predict their risk of other cancers and would open the door to testing of family members, who then might avoid the disease.
Once a specific mutation is found, relatives can undergo much cheaper testing, at a cost of about $300.
Clues that should prompt screening are the strength of family history of those cancers; a person's age when the disease was diagnosed; and patterns within a family or multiple cancers in one person, Gruber said.
Dr. Henry Lynch of Creighton University in Nebraska, who discovered the syndrome, said he was pleased with the study's results and hopes that widespread screening becomes the standard of care.
Breast-cancer mutations are much more widely tested for but are about half as common as Lynch syndrome, said Dr. Judy Garber, president-elect of the American Association for Cancer Research, which publishes the journal in which the study appears.
Dr. Randall Burt, who worked on the study and practices at the Huntsman Cancer Institute in Utah, said he thinks wide distribution of the study's findings will help shift how doctors view screening for the syndrome.
Hampel said people working in genetics should come up with tools that will more quickly and easily help busy primary-care doctors look for a variety of syndromes.
A calculator that estimates risk of Lynch syndrome can be found online at www. dana-farber.org/pat/cancer/gastrointestinal/crc- calculator/ or by searching for "Premm model."
mcrane@dispatch.com
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