The Intermountain team set out to determine if they could develop a system for screening colon cancer patients with existing tests that could keep costs down, but also ensure accurate results. The team gathered information from a variety of sources, including Intermountain patient data, published literature and outside groups to define the best approach to screening. They came up with a plan that relies on two relatively inexpensive tests to eliminate possible Lynch patients before doing full genome sequencing.
So far, 272 colon cancer patients have been screened according to the group's system, with 261 individuals ruled out as carriers of the abnormal genes.
"That left only 11 patients who we would recommend going forward with the full genome sequencing test," says Dr. Williams. "That represents the wisest use of the expensive resource of full sequencing."
The benefits extend not only to the colon cancer patients, but also to members of their extended families, who may also have the MMR mutation.
"Confirming the Lynch diagnosis changes the way we treat the disease. This form of colon cancer has a generally better prognosis than sporadic colon cancer, but it doesn't respond as well to certain kinds of chemotherapy," says Dr. Williams.
It can also make patients more alert to other forms of cancer, triggering earlier and more frequent screenings. Some women who are diagnosed with Lynch may choose to have surgery to remove the uterus and ovaries to prevent ovarian or uterine cancer.
One unusual aspect of the project was the methodology used to carry it out, says Dr. Williams.
"The team developed customized computer models to examine an assortment of questions that Intermountain decision-mak
|Contact: Jess C. Gomez|
Intermountain Medical Center