Cancer is the leading cause of disease-related death in children, and “10 to 30 percent of such cases are related to a genetic risk”—a cruel fate that can make families feel helpless, says pediatric oncologist Joshua Schiffman, M.D.
But it’s in the genetics where hope gets a foothold, because precision medicine can make a big difference in these young lives, Schiffman said, speaking earlier this month at a University of Utah-sponsored “Frontiers in Precision Medicine Conference.” Under the umbrella of precision medicine, research can lead to the discovery of the culprit genes and, in turn, allow for the development of targeted treatments to combat cancer.
As the medical director of the High Risk Pediatric Cancer Clinic, Schiffman knows the faces and families of childhood cancers all too well. He says the three questions parents most often ask when their child is diagnosed with cancer are: Will my child survive, Why did my child get cancer, and are my other children at risk?
This last question is especially a concern in Utah, since many couples plan on having large families. It also makes Utah the perfect place to study cancer. “One of nice things about doing precision and genetics in Utah is the large families. You can save a lot of lives,” says Schiffman. “You can make a real impact.”
He cites the families he sees who have Li Fraumeni syndrome, a rare, inherited genetic disorder that increases the risk of developing cancer by 80 to 90 percent, usually in children or young adults: “These families will tell you they feel cursed.” Schiffman’s lab has been studying cancer resistance in elephants that have 40 copies, as compared to only two in humans, of the p53 tumor-suppressor gene—nicknamed the "guardian of the genome"—to better understand how cancer spreads and, more importantly, how it can be stopped. Families with Li-Fraumeni syndrome could be some of the first to benefit from this research, which will eventually lead to clinical trials for high-risk patient populations.
Schiffman’s research leverages the power of the 7-million-person Utah Population Database (UPDB), the world’s largest repository of family histories linked with public health and clinical records. “Access to the [database] is huge for those of us in pediatric cancer. …A family history of cancer means you are twice as likely to have another child with cancer,” Schiffman says. “This is about using genetics for prevention—detecting cancer before patients even have their first symptoms. Identify those families most at risk and find the identifying factors even before imaging can.”
Notwithstanding advances in technology and the wealth of data in the genetics arena, Schiffman says one of the most important clinical tools remains a well-kept family medical history. Schiffman advocates for broader use of histories among physicians. He’s also developing a social media tool to make it easier for individual families to collect and share their health histories, called ItRunsInMyFamily.com. Information gathered on this site will eventually tie back to the Utah Genome Project, which aims to build a seamless platform for the collection, analysis and use of genetic data, among other goals. According to Schiffman, “ItRunsInMyFamily will be a tool for families but also for research.”
Peta Owens-Liston is a communications specialist for ARUP Laboratories