Thanks to a new study conducted by the Intermountain Clinical Genetics Institute at LDS Hospital, people living in Utah, who are at risk for certain forms of colon and other cancer types may soon have better chances of survival or even avoiding the diseases. The study is published in the August edition of the American Journal of Managed Care.

The research team of the Intermountain Heathcare group applied advanced computer modeling to establish reliable and cost-effective options for identifying patients who may suffer from Lynch syndrome, an inherited cancer syndrome in people with a genetic mutation in one of the DNA mismatch repair genes.

DNA damage that happens to everyone as part of daily life, is usually repaired by the mismatch repair, called MMR, however, patients with genetic mutations in these genes have a significantly higher risk of developing colon, uterine, pancreatic and urologic cancers. In some patients the lifetime risk can reach up to 80 percent.

Team member Marc S. Williams, MD, director of the Clinical Genetics Institute at LDS Hospital said,

“Being able to identify people who carry a gene change is profoundly important because earlier and more frequent screening – not just for colon cancer, but also for other cancers – could save their lives. It could also save the lives of relatives who have no idea that they may share the increased risk for cancer.”

In recent years, a national report on colon cancer suggested screening all colon cancer patients for Lynch syndrome but failed to identify the most effective ways to achieve this, so the screenings stopped short.

James Gudgeon, an analyst with the Clinical Genetics Institute and leader of the study said,

“There are many tests available that can be used in different combinations to diagnose Lynch syndrome, but there’s little clarity about what’s the most effective and efficient approach.”

He continued,

“Doing full genome sequencing on all colorectal cancer patients would uncover virtually all MMR mutations, but the majority of these patients don’t have them. Sequencing costs $4,000 to $6,000 per person, so it would be incredibly costly and inefficient to test everyone.”

Intermountain researchers decided to establish a screening system for colon cancer patients with existing tests, which would be more cost-effective but ensure accurate results. They collated information from various sources, including Intermountain patient data, published literature and outside groups to establish the best screening concept, and delivered an approach relying on inexpensive tests to eliminate some of the possible Lynch patients before doing full genome sequencing.

To date, the research team has screened 272 colon cancer patients with their new system of which 261 individuals did not qualify as carriers of the abnormal genes.

Dr. Williams commented,

“That left only 11 patients who we would recommend going forward with the full genome sequencing test. That represents the wisest use of the expensive resource of full sequencing.”

The benefit of the new screening system is also beneficial for extended family members of the colon cancer patients’, who may also have the MMR mutation.

Dr. Williams comments, that confirming the Lynch diagnosis changes the way the disease is treated. This form of colon cancer generally has a better prognosis than sporadic colon cancer, but it doesn’t respond as well to certain kinds of chemotherapy.

Another benefit is, that it alerts patients more to other forms of cancer, triggering earlier and more frequent screenings. Some women diagnosed with Lynch may opt to surgically remove the uterus and ovaries to prevent ovarian or uterine cancer.

Dr. Williams said,

“One unusual aspect of the project was the methodology used to carry it out. The team developed customized computer models to examine an assortment of questions that Intermountain decision-makers were interested in. You don’t usually see healthcare systems doing this kind of work. We think application of this type of modeling can help healthcare systems make better decisions about how to best treat patients. It can help improve patient outcomes and increase efficiency, which are two of the benefits Intermountain Healthcare is well known for delivering.”

Written by Petra Rattue