For Pediatric Cancer, Genomic Profiling Helps Guide Patient Care

Pediatric cancer is a paradox. Cancer is widely accepted as a disease of aging; it occurs only after people have lived long enough for their cells to accumulate enough mutations to become cancerous. Yet we live in a world where children get cancer — and some babies are born already having cancer. How can that be possible?

In the race to cure these vulnerable patients, scientists have been working hard to understand the differences between pediatric and adult cancers. Some of the biggest breakthroughs have been fueled by the application of genomic data to help tease out key biological mechanisms associated with pediatric cancers.

This was a core theme in a talk from Elaine Mardis, who runs the Institute for Genomic Medicine at Nationwide Children’s Hospital in Columbus, Ohio, at the recent annual meeting of the Association for Molecular Pathology. In a four-year study of the use of genomic profiling to inform cancer care at the hospital, she and her team found that more than 90% of the nearly 400 cases covered had medically relevant findings. Such findings might inform the specific diagnosis of a cancer, the treatment selection for each patient, and more.

In a much larger study spanning more than 6,300 patients to date from across the U.S., Mardis and her team have been generating reams of genomic and related data to profile each person’s cancer. That information is already being used to inform treatment — “This is impacting patients in real time,” Mardis said — and it’s also bolstering publicly available data resources to help other researchers and physicians better care for their own patients. Her team is contributing to additional tools, such as an automated analyzer for cancer-related DNA variants, that could help labs around the world improve the diagnosis and treatment of pediatric cancers.

All of these advances are desperately needed. Today, the American Association for Cancer Research released the first-ever progress report on the state of pediatric cancer. In the U.S. alone, experts estimate that almost 15,000 children and teens will be diagnosed with cancer this year; around the world, that number is a staggering 400,000. Survival rates for even the most treatable forms of pediatric cancer are substantially less in low- and middle-income countries compared to high-income countries.

But the progress report has some good news as well. Overall, more kids are surviving cancer: five-year survival rates have reached 87%, compared to the 63% survival rates seen 50 years ago. In the past 10 years, the FDA has approved more than 30 new treatments for pediatric cancer. This still represents a fraction of the number of cancer therapies available to adults, but it is a very real improvement for the patients who benefit from them.

The progress report also lays out several recommendations for how to achieve even better outcomes in pediatric cancer. They include expanding access to clinical trials, which often exclude pediatric patients; supporting data-sharing resources to accelerate research; and, perhaps most important of all, maintaining robust and reliable levels of federal funding for pediatric cancer research.