For patients with some types of cancer, genomic testing can change their treatment course. The results of such tests can help doctors match some patients to specific treatments that could benefit them.
These are the stories of how genomic testing helped Rachel and Edward with their cancer treatment:
Rachel, Female, 45, USA
In September 2014, I began to notice numbness in my leg and I felt a large knot in my thigh. I talked to my doctor who then referred me to have a CT scan. The scan showed that I could have a tumor, but a biopsy was needed to confirm this suspicion.
The needle biopsy confirmed that I had a high grade undifferentiated soft tissue sarcoma. It was such a shock. Following my diagnosis, I underwent several rounds of chemotherapy and multiple surgeries in a bid to get rid of the cancer in my body, but these conventional treatments weren’t working. The cancer had spread and metastases filled 90 percent of my lungs. By this point I was wheelchair-bound and my breathing had to be supported with oxygen. I was scared and had almost lost hope.
As a final attempt, my physicians took another look at the genomic test that had initially been conducted and re-examined the results. They discovered that my tumor harbored a specific kind of genomic alteration. After finding this out, they were able to match me to a treatment that specifically targeted the protein that was causing my cancer to grow as a result of this genomic alteration.
Within weeks of starting the treatment, the doctors could see that the tumors were responding. Today I am living an active life once again and enjoying time with my family.
If there’s one piece of advice I’d give others in a similar situation, it would be to talk to your doctors about genomic testing. Knowing the reasoning behind what drives your cancer can give your doctors more options and, in my case, it completely changed my treatment course.
Benjamin, Male, 9, Canada
In the fall of 2014, my young son was diagnosed with stage IV thyroid cancer. He was only 5 years old and my husband and I were heartbroken.
Benjamin had to endure surgery and radioactive iodine treatments but despite this, his cancer progressed and spread to his lungs. At this point, the doctors told my husband and me that nothing else could be done to help our son and we were utterly devastated.
In the spring of 2017, we received a phone call from Benjamin’s doctor. Years earlier, when our son underwent surgery, we had given his endocrinologist permission to carry out a genomic test on his tumors in the hopes that the doctors could learn more about what had caused his cancer. Our son’s doctor had re-examined the test results and discovered that our son’s tumor harbored a specific genomic alteration.
Because the doctors discovered the genomic alteration that was driving Benjamin’s cancer, they were able to quickly match him to a specific treatment that fit. After just a few months of treatment, there was a noticeable difference in the scans. The white spots on the scans—the cancer that had filled his lungs—had decreased in size, and some spots had even completely disappeared!
It feels amazing that our son is now nine years old and has the chance to do the things he loves: soccer, horseback riding, skiing, camping, and building forts. Benjamin is doing much better and living a normal life, all thanks to that genomic test.
1 National Cancer Institute, NCI Dictionary of Cancer Terms: Needle Biopsy; Last accessed January 2019
2 National Cancer Institute, NCI Dictionary of Cancer Terms: High grade; Last accessed January 2019
3 National Cancer Institute, NCI Dictionary of Cancer Terms: Undifferentiated sarcoma; Last accessed January 2019