Craig Gilbert just 18 when he lost his father to colon cancer, which had also taken both of his grandparents and his uncle. After experiencing symptoms, Gilbert had his first colonoscopy at age 35, determined to face his own risk for colon cancer head-on.
Now at 44, thanks to UCI Health genetic counseling and testing services, he has the information to do just that.
Rare mutation discovered
Gilbert’s genetic test results revealed that he has Lynch syndrome, a rare hereditary mutation that gives him an 80 percent chance of developing colon cancer during his lifetime.
The mutation can also contribute to certain types of stomach and hepatobiliary cancers, and to uterine and ovarian cancer in women. Lynch syndrome is linked to at least 3 percent of the 140,000 U.S. cases of colon cancer diagnosed each year, according to the National Institutes of Health.
“It’s a very low percentage of the population that actually has Lynch syndrome,” Gilbert says. “If science hadn’t come as far as it has, I would have been my father. I wouldn’t have found it [the Lynch syndrome link], I wouldn’t have known, and I’d probably be having my colon removed.”
Genetic counseling is particularly appropriate in cases like Gilbert’s – cases involving a relatively young patient, the early onset of symptoms and a clear family history of cancer. It can also be used to assess and diagnose rare genetic disorders, as well birth defects and other fetal abnormalities.
How genetic counseling works
As the name suggests, genetic counseling and testing are much more than simple blood or saliva tests. Before any blood is drawn or mouth swabbed, patients discuss their medical and family histories as well as their motivation for testing with UCI Health cancer genetics counselor Deepika Nathan.
There’s also plenty of talk about managing expectations and how to handle the three weeks of uncertainty waiting for the results. Like the DNA being tested, every genetic counseling patient’s circumstances are unique.
“Everybody comes from a different point in their life, a different point in their treatment,” Nathan says.
“Their past perceptions definitely shape how they view cancer risk. That’s why the process of genetic counseling before genetic testing is so important – because we go through not only the more complex genetics of the disease, but also the patient’s motivation for testing and how to use the genetic test results to modify medical management.”
Discussing test results
Oftentimes, the real counseling begins when the patients’ test results are discussed. It’s a delicate balance – a negative result isn’t a get-out-of-cancer-free card, nor is a positive result a death sentence. Nathan says most patients get a certain degree of closure from the results and feel armed with the information they need to move forward.
“For some people, now they have an answer as to why they got cancer, as to why there’s so much cancer in their family,” she says. “It helps them know that it was nothing that they did to cause their cancer. Most people feel empowered by having their genetic test results. They now know what they’re looking at. However, it is a process and it takes time.”
A family affair
Since discovering his condition, Gilbert has made it his personal mission to spread the word about the benefits of genetic testing – starting with his own family.
Gilbert has five brothers and sisters, and, with the help of his sister, who is head of nursing at the children’s hospital in Gilbert’s native Boston, he has been hounding everyone to get tested. He’s also thinking about his three children, a 15-year-old son and two daughters, ages 14 and 12.
“I’m on the hook for colonoscopies every year for the rest of my life, so it’s not really of interest to me,” Gilbert says. “My primary motivation was not necessarily for myself. It’s more for my kids.”
He encourages others to undergo genetic counseling and testing, which he believes will extend his life significantly, regardless of their medical or family histories.
“It was painless and inexpensive,” he says. “I think it was the best thing I ever did.”
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