Innovative Gene Screening Process Could Improve Odds for Cancer Patients

August 31, 2011

Researchers at the Intermountain Clinical Genetics Institute at LDS Hospital have developed a new method for identifying patients who carry a gene that affects treatment for colon and other forms of cancer.

In addition to being more cost effective than previously existing tests, the novel technique ensures accurate results; it could soon be the gold standard in early detection and treatment for many colon cancer patients.

Diagnosing Lynch Syndrome May Inform Treatment Decisions

A number of cancer patients suffer from an inherited condition known as Lynch syndrome. Lynch syndrome affects mismatch repair genes that are supposed to mend naturally occurring DNA damage.

Although Lynch syndrome is usually asymptomatic and difficult to detect, it increases the lifetime risk of colon, uterine, pancreatic and urologic cancers to as high as 80 percent. And, even though colon cancer brought on by Lynch syndrome generally has a better prognosis than sporadic forms of the disease, it may not respond as well to standard chemotherapy.

Conducting full gene sequencing on colorectal patients reveals almost all mismatch repair gene mutations. However, full gene sequencing is costly (between $4,000 and $6,000) and time consuming. Ultimately, only around five percent of colorectal tumors are Lynch-related; testing all colon cancer patients in this manner would be extremely inefficient and expensive.

The new method developed at LDS Hospital could save costs and lives by quickly and cheaply separating out individuals who are not Lynch carriers. By combining two inexpensive tests with advanced computer modeling techniques, researchers were able to successfully rule out those in a sample of colon cancer patients who were not carriers of abnormal mismatch repair genes.

What the Research Means

A study from the Intermountain Clinical Genetics Institute that details their Lynch syndrome diagnosis methodology has been distributed to the medical community via the August 2011 edition of the American Journal of Managed Care. But, so far only about 300 patients have been tested under the new screening system.

While more work needs to be done, the research nonetheless has vast potential. Early detection of Lynch syndrome in cancer patients could mean more effective, targeted chemotherapy; discovering abnormal mismatch repair genes could alert a patient's family members to looming cancer risks (siblings and children of those with Lynch syndrome have a 50 percent chance of carrying the disease); and, eventually, widespread screening policies could help identify cancer threats before tumors even develop.

In the future, genetic screening like that conducted at LDS Hospital could lead to huge gains in preventing delayed diagnosis of cancer.

Article provided by Powers & Santola, LLP
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