Mutation Analysis in Colorectal Cancer

A majority of colorectal cancer cases are sporadic rather than genetic, which makes it important to caution patients that a mutation analysis is not necessarily performed to look for inherited forms of the disease, but rather, to guide treatment decisions, says Cathy Eng, MD. Additionally, although the goal may be to guide treatment, not all abnormalities found by a gene panel are actionable with a currently available targeted therapy.

It is important to advise patients that it may take 3 to 4 weeks for genetic testing results to be available. It is good to control expectations early, since patients may be anxious to receive their results, states Tanios Bekaii-Saab, MD. It is helpful to let patients know that quite often the results will not immediately change their treatment, adds Saab.

If the genetic test results reveal certain actionable mutations, patients should be provided with information regarding what the findings mean to them. If the results do indicate a familial link to cancer, there should be a separate discussion about the potential need for further genetic testing and counseling, says Saab.