When Christina Lewis started dating Zach Haywood, little did she know that the butterflies in her stomach were something more than her feelings for Haywood. After three months of dating, Lewis was diagnosed with rectal cancer.
Lewis admits she was reluctant to discuss her “tummy troubles” with her new boyfriend. “Embarrassment kills many colorectal cancer patients because we tend to wait far longer for a diagnosis,” she says. “Often by the time a diagnosis is reached, it is already too far advanced. Zach is the one who talked me into seeing a gastroenterologist.”
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.
At first, the gastroenterologist thought Lewis had colitis or Crohn’s disease. But after a large tumor blocked her colonoscopy, Lewis was sent to oncologist Manish Bhandari, M.D., at The Christ Hospital Health Network. She was diagnosed with stage 3 rectal cancer at age 34, which is young since most people with colorectal cancers are over age 50.
Bhandari learned that Lewis’ father died of a rare skin cancer in his early 40s. Several members of her father’s family also had cancer. Because of Lewis’ age and multiple cancers in her father’s family, Bhandari suggested a genetic test that might identify the genes driving cancer in Lewis’ body. The test would indicate whether Lewis had Lynch syndrome, a genetic predisposition that makes some people more likely to develop certain forms of cancer.
“Embarrassment kills many colorectal cancer patients because we tend to wait far longer for a diagnosis. Often by the time a diagnosis is reached, it is already too far advanced. Zach is the one who talked me into seeing a gastroenterologist.”
A genetic marker is a DNA sequence with a known physical location on a chromosome. Genetic markers can help link an inherited disease with the responsible gene.
By seeking to understand the biological characteristics of Lewis’ body that may have been contributing to her disease, Bhandari was employing a cutting-edge approach to health care called personalized, or precision, medicine. Personalized medicine is an evolving field in which doctors use diagnostic tests to identify specific biological markers, often genetic, that help determine the medical treatments and procedures that will work best for a specific patient. Personalized medicine is reshaping health care for some patients with cancer by giving physicians new tools that can be used to inform more proactive follow-up strategies for cancer survivors and their family members, who may carry similar genetic traits.
Lewis, for example, tested positive for Muir-Torre syndrome, a form of Lynch syndrome that is associated with internal cancers, mostly colorectal cancers, and sebaceous (oil gland) skin cancers. The diagnosis explained the cancers in Lewis’ father’s family. It would also guide her follow-up care, because having Muir-Torre syndrome increases a patient’s risk of many types of cancer, including breast cancer, liver cancer, and other gastrointestinal cancers.
After the tumor was removed, Lewis was given the FOLFOX chemotherapy regimen, which was stopped due to troubling side effects. The second treatment regimen, FOLFIRI, was a success. She has been cancer-free for six years, and the discovery of her Lynch syndrome prompted follow-up testing for several of her family members, who now have opportunities to pursue more proactive prevention plans.
“The fact that Dr. Bhandari suspected that the cancers were all connected has literally saved my life, my sister’s life, and very likely my young nephew’s life,” she says. “I spend each day of my bonus time living the life that I choose, and I am now married to Zach, my best friend, and the love of my life.”