Almost everyone has been touched by cancer, whether because a friend or family member has been diagnosed, or they are personally living with the disease. But while the disease seems universal in some ways, the cancers themselves are like fingerprints – as unique as the individuals who are diagnosed. Cancer is a disease of the genome, driven by genetic mutations. That’s why genomic testing is a crucial step that can help in understanding the underlying biology of cancers in order to identify potential treatments that target a mutation and deliver personalized care.
Comprehensive genomic profiling (CGP) is a way of finding the unique “fingerprint” of a cancer tumour. Using a biopsy of the tumour, CGP searches for genetic mutations across a large number of cancer-related genes, identifying the ones that are known to affect how a tumour behaves and grows. The insights from CGP help physicians refine their diagnosis and match cancer-causing mutations with targeted treatments, ruling out unnecessary therapies. Potential treatments can be personalized to the unique profile of each individual’s tumour – matching the cancer’s unique “fingerprint.”
In 2016, when Jennifer was visiting her grandchildren in Florida, she developed a cough. Upon her return home to Canada, she visited her doctor, who told her to come back if the cough didn’t go away in three weeks. The cough persisted, and her doctor referred her to an oncologist. Though Jennifer had never smoked, it turned out she had advanced lung cancer (stage IV).
“It was one of those situations, as a never-smoker, where it’s a complete shock,” said her physician, Dr. Jeffrey Rothenstein, Medical Oncologist at the Durham Regional Cancer Centre in Oshawa. Both Jennifer and he had the question that nearly every cancer patient asks: “How can this be happening and why did this happen?” Dr. Rothenstein did some initial testing, including testing for single cancer-causing genes, and Jennifer was negative. No answers.
At that point, Dr. Rothenstein brought up the option of genomic testing. He explained to Jennifer that CGP could identify the specific, unique DNA mutation profile within her cancer cells, which would help him guide decisions in a treatment plan. Dr. Rothenstein had started Jennifer on chemotherapy, and she’d responded to the treatment, but both wanted to be sure they had left no stone unturned in fighting the disease. Jennifer felt relieved to have another option.
“I’m a control freak,” Jennifer said, “and I can’t control what my body is doing any more.” She agreed to have the testing. “I need to have a plan,” she told Dr. Rothenstein.
“When I talk to patients and when I talked to Jennifer about the genomic profiling we spoke about this idea of having a toolbox, and wanting to use the right treatments at the right time during the course of treatment for her disease,” says Jennifer’s physician, Dr Jeffrey Rothenstein, Medical Oncologist at the Durham Regional Cancer Centre, Oshawa, Canada.
The CGP testing came back and revealed that Jennifer did have a specific mutation in her cancer that might respond to a targeted therapy. Having that information helped Dr. Rothenstein personalize Jennifer’s treatment journey. Armed with this knowledge, Jennifer feels fortunate. “I’m lucky to be in this age where there is a lot of emphasis put on research and development,” she says. “In addition to the wonderful medical care that I have received, I have had wonderful support from my family.”