Knowing your risk for certain types of cancer can help you determine how to better prevent it or catch it at an earlier stage. That’s where genetic testing can be a helpful tool.
Ben Aasby went in for his colonoscopy last October. During the procedure, several polyps were found and taken out, eventually prompting for more follow-up in Sioux Falls, where he had two additional colonoscopies.
“I had my third one and they took out eight or nine polyps and they were all precancerous, but the ones before that were not,” said Aasby.
Access to Genetic Testing
In between colonoscopies, it was recommended Ben do genetic testing.
“Ben and I were able to meet via telemedicine while he was in Mitchell and I was in either Pierre or Aberdeen that day. At Avera, we’ve tried to make it more available to more rural communities and individuals that live there to pursue genetic testing where they don’t necessarily have to travel all the way to Sioux Falls,” said Avera genetic counselor, Austin Huber.
Understanding Gene Mutation
After discussing family history and doing testing, Ben had answers.
“After we pursued it we identified a gene mutation in a gene called APC. We know that gene is related to a condition called familial adenomatous polyposis, we call it FAP,” said Huber. “FAP is a condition where individuals generally develop a lot of polyps, in the more classical presentation we actually see people developing hundreds or thousands in their colon. “Depending on where within that particular gene you have that mutation we might see a less severe presentation in some circumstances where people have more like 10 to 100 polyps.”
That means Ben will likely have to have colonoscopies more often than someone of typical risk.
“When somebody has FAP, we usually talk about them pursuing colonoscopies every one to two years, at least in the less severe forms, so that will probably be something recommended going forward. He was already going to be followed pretty closely with colonoscopies because of his history, so one of the bigger things that is noted with this is that he may also have a risk for some other types of cancer,” said Huber.
Stay Up to Date on Preventive Screenings
Thanks to genetic testing, Ben can confidently navigate his health. Plus he’s glad he got his colonoscopy when he did and encourages others to stay up to date on their preventive screenings.
“If it’s preventable, it’s easier, because if I would have ignored that for another year, things would have been different,” said Aasby.
Genetic testing can also be helpful in determining if Ben’s siblings or relatives could also carry this gene. Learn more about genetic testing and counseling at Avera.
