Genetic Screening for Lynch Syndrome Is Cost Effective

CURE, Winter 2010, Volume 9, Issue 4

Widespread genetic testing of Lynch syndrome is cost-efficient and reduces the risk of colorectal cancer.

Lynch syndrome, a condition that arises from inherited genetic mutations, can increase a person’s risk of colorectal cancers by 80 percent, as well as increase the risk of endometrial cancer. Up until recently, however, widespread genetic testing for the rare condition wasn’t considered standard practice. A study released this past November in Cancer Prevention Research now shows testing for the mutations associated with Lynch syndrome is cost efficient.

Also known as hereditary nonpolyposis colorectal cancer, Lynch syndrome is believed to be responsible for approximately 3 percent of all colon cancers and is twice as frequent as BRCA breast cancer mutations in the general population, but much less recognized.

University of Michigan scientists used a mathematical model that showed that genetic testing of Lynch syndrome could lower colorectal cancer risk by 12.4 percent and endometrial cancers by 8.8 percent. The computer simulation calculated that if 100,000 individuals were followed and given a risk assessment as early as age 25, those who were found to have a higher than 5 percent risk should undergo genetic testing. Those who are found to have a gene mutation associated with Lynch syndrome could then take the necessary precautions to prevent cancer, such as earlier colonoscopy screenings.

The cost to screen a high-risk individual is approximately $2,600. However, the price to test additional family members, if a mutation is found, drops to $300.

When examining the cost per quality-adjusted life year, scientists found screening for Lynch syndrome in high-risk individuals came out to be $26,000—well below the $50,000 threshold usually considered cost efficient and within the range of other commonly used screening techniques such as mammography and colonoscopy.

Questionnaires are available online to help determine risk based on family history, including one at Dana-Farber Cancer Institute. If your risk is higher than 5 percent, talk to your doctor about genetic testing for Lynch syndrome. Individuals who do test positive for a mutation might be encouraged to begin colonoscopy and uterine and ovarian screenings earlier or elect to undergo prophylactic surgery to prevent the disease.