Where Are They Now?

“Without genomic testing, we would be treating Carter’s tumor based on our best guesses.”

The first day of school is a big day for every child’s family. But for Carter’s family, it was a celebratory reminder of just how far he had come.

Carter has been a patient at Nationwide Children’s Hospital since 2013. At just 1 year old, he was diagnosed with a rare brain tumor. Now — thanks to the expertise in precision medicine led by his clinical teams and cutting-edge research at the Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital — Carter is a 9-year-old kid enjoying a new school year.

Following Carter’s 1-year well-baby visit, physicians discovered he had sarcoma, a rare cancerous tumor that occurs in bone, muscle, or connective tissues. Treated through surgery and proton radiation therapy with initial success, the tumor returned when Carter was 6 years old. Physicians turned to the IGM for answers – and the sarcoma was classified as a meningeal sarcoma — an especially rare and aggressive tumor that predominantly affects children. They identified its cause: a mutation that causes one specific gene to become overactive. Carter’s clinical team was able to target that gene with an oral chemotherapy drug.

GENOMICS AND PEDIATRIC CANCER: ONE SIZE DOES NOT FIT ALL

All cancers contain genetic changes, or mutations, in the genetic code of their cells. These mutations cause cancer cells to grow and spread, leading to the development of a tumor. Genomic testing searches for gene alterations, or harmful changes, in the genetic code and identifies the specific pattern of mutations of a person’s cancer.

“DNA, essentially, encodes the instructions for how cells should work,” says Elaine Mardis, PhD, who leads the IGM along with Richard Wilson, PhD, as co-executive director. “If those instructions get scrambled or damaged, then cells may grow out of control, resulting in a cancer.”

Treatments affect people differently - it comes down to our genes. Genomics leads to better understanding the cancer, allowing doctors to identify treatments that may or may not work best for each patient. When the IGM identified the mutation responsible for Carter’s tumors, his clinical team was able to prescribe targeted treatment for that mutation which has helped him stay in remission, tolerate his medication without side effects, and avoid any developmental delays.

“Without genomic testing, we would be treating Carter’s tumor based on our best guesses. Knowing the exact mutation, we were able to quickly arrive at an effective treatment for him. This is precision medicine at its best,” says Dr. Nick Yeager, director of Oncology in the Division of Hematology, Oncology and Blood & Marrow Transplant and a member of the comprehensive sarcoma program at Nationwide Children’s Hospital.

THE PROMISE – AND REWARD - OF PRECISION MEDICINE

Now cancer free, Carter represents the power of combining state-of-the-art diagnostics and therapies. His life was saved by researchers and specialists at the IGM, working to find the genes driving cancers in children — and the drugs that can stop them. DNA sequencing and genomics are revolutionary next steps towards precision medicine. With these powerful new weapons in our arsenal, we can continue to learn more about what causes pediatric cancer and match children with precision treatments that spare them harsh side effects. This knowledge can give patients, like Carter, personalized approaches to fighting cancer and the chance to grow up and lead full lives.