Cancer genomic testing – Debbie Rhea’s story

Debbie Rhea’s retirement at the age of 59 coincided with the birth of her first grandchild. In the eight years since, she’s had two more grandchildren, and loves nothing more than to share her passion for travelling with them - especially to Disney World.

That’s why her lung cancer diagnosis four years ago was especially devastating. “It was very stressful and scary,” she says. “My biggest concern was that I might not be able to see my grandchildren grow up.”

Debbie went to see her oncologist and had to undergo several operations in an attempt to remove the cancer from her lungs, together with bouts of chemotherapy. “When this happened [the cancer came back] the third time of course we were all very concerned and didn’t know what we were going to do.”

Dr Alex Spira, director of the Virginia Cancer Specialists Research Institute and Debbie’s oncologist, describes what happened next. “So we sent off a sample of her tumour for genomic testing,” he explains, “and the test revealed that Debbie had an NTRK fusion, which is a rare type of [DNA mutation].”

Because Debbie’s genomic test uncovered this mutation in her tumour tissue, Dr Spira and Debbie were able to map a treatment plan tailored to her unique cancer profile. “The first thing I tell patients is you're not going to walk out of here knowing what your treatment is today. We need to wait for these special tests to come back. I explain to them why these tests are so important, because it will derive the exact nature of their treatment for their cancer. It will help identify the best treatment for them, and what's going to allow them to live the longest and live the best,” Dr Spira explains.

Thanks to the ongoing effectiveness of Debbie’s targeted therapy, she’s been able to focus her energy again on planning vacation trips including an annual cruise to the Caribbean, and an annual trip to Disney World with her grandchildren whom she’s able to see grow up.

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