You are the owner of this article.

Genetic Testing for Colon Cancer Helps Patients Understand their Families’ Risk

  • 3 min to read
Genetic Testing for Colon Cancer Helps Patients Understand their Families’ Risk

There is a rite of passage for adults as they turn 50 that most of us would rather not think about, as it is that age that (for most of us) it’s time to have a colonoscopy. Leading up to it we hear stories about the strange liquid we have to drink and the very idea of the procedure causes us to cringe; but most people who go through it admit that the whole process isn’t really that bad. And, in fact, going through the procedure is better than the alternative, which is not catching a very dangerous and often deadly disease.

Not including skin cancers, colorectal cancer is the third most commonly diagnosed cancer in both men and women in the U.S. and the third leading cause of cancer-related deaths in the U.S. Fortunately, better screening practices have been steadily improving the mortality rate of this cancer over the years, not only allowing doctors to catch cancer at an earlier, more easily treatable stage, but also by allowing polyps (small growths on the surface of the colon) to be caught and removed even before they develop into cancers.

But what happens if your physician finds a polyp or a tumor? What treatment options are available to you? And is there a chance that your family may be at risk for colon cancer as well?

Sentara Martha Jefferson Hospital has long treated colon cancer with survival rates that exceed the national average.

In the past, testing would be done on some colorectal cancers if the doctors might suspect a genetic syndrome. For the past few years, however, the hospital has tested all adenocarcinomas of the colon and rectum, regardless of the patient’s age of diagnosis.

“Universal Tumor Testing is a genetic mutation screening program,” said Katelyn Blondino, genetic counselor at Sentara Martha Jefferson Cancer Care Center. “That means that regardless of age or family history, every colorectal cancer is tested to determine if it’s a sporadic cancer or possibly due to a genetic syndrome. This program helps us pinpoint someone who may be at an increased risk for mutation. And the results have been hugely helpful—we’ve been able to pick up individuals with genetic syndromes that we wouldn’t have otherwise caught.”

Though when Universal Tumor Testing launched is was not yet widespread practice, it has become more common and is now consistently done throughout the Sentara Healthcare system.

This type of testing is important to understanding the type of syndrome at work and is very helpful in directing the treatment and management of the disease. It can help a physician determine which procedure and medications would be most effective, for example.

While tumor testing does not diagnose a hereditary colorectal cancer syndrome, it can be suggestive of an inherited predisposition.

“Once a tumor is identified as being suspicious for a hereditary syndrome, genetic counseling can help individuals and families determine if genetic testing is appropriate for them,” added Blondino.

Even if a family member’s colon cancer is not suspicious for a hereditary colorectal cancer syndrome, it is still important to pay attention to your family history. Guidelines state that you need to have a colonoscopy at 50 or 10 years before the youngest diagnosis in the family, whichever comes first.

To make it even trickier, colon cancer is not the only indicator that there is a genetic syndrome in your family. Some uterine, thyroid and ovarian cancers can indicate a syndrome that would cause colon cancer as well.

So how do you know if you need to be tested?

“Even if you don’t have tumor or if your tumor screen comes back normal, we still recommend seeing patients if they have two or more family members who have had colon cancer or other related cancers, such as uterine or ovarian cancer,” said Blondino. “Or if someone in your family had cancer at a young (before 45), we recommend further genetic evaluation.”

The most important thing to note, though, is that genetic pre-disposition does not mean you will definitely get colon cancer. Regardless of the findings, there are ways to reduce your risk of colon cancer through changes in your lifestyle. And if you are found to be at risk, you will likely be screened more frequently to ensure that if you do develop a tumor, it will be caught in an early stage of the disease and you will have better treatment options.

“Our hope is that we can get patients with a genetic pre-disposition for colon cancer in for more frequent screenings,” explained Blondino. “With earlier and more frequent screenings, we can catch cancer at an earlier stage when treatments can be more effective.

“The most important thing is for families to be open and talk to each other. It isn’t always a topic of conversation that we want to have, but understanding your family history can lead you and your providers to be more proactive about screening for cancer, which can save your life.”

Early detection can save your life. Hear firsthand from Sentara Martha Jefferson patients who beat cancer at

Load comments

Get up-to-the-minute news sent straight to your device.



Breaking News

Sports Breaking News