Genetic Testing Program Helps Uncover Inherited Risk in Pediatric Cancer

Some cancer syndromes require specialized expertise and may be difficult to manage during routine pediatric care. About one in 10 children, adolescents and young adults diagnosed with cancer will have a genetic finding that increases disease risk. Researchers now describe a clinical study using genetic testing to identify young patients and families with inherited cancer predisposition.

The University of Kentucky’s (UK; Lexington, KY, USA) Project Inherited Cancer Risk (PICR) is a clinical study based at the DanceBlue Pediatric Hematology & Oncology Clinic at Golisano Children’s at UK. The project tests young patients with pediatric and young-adult cancers for genetic changes that may increase cancer risk. Testing can be performed using a blood or saliva sample and generally involves a panel of genes, with customized testing available in selected cases. When a genetic change is identified, relatives can then be tested for the same variant.

PICR uses family history, pedigree development, and blood or saliva testing to evaluate inherited risk. The project tests a panel of genes, an approach described as broadly applicable for many pediatric cancer patients, while customized genetic testing is also available in unusual situations. In families with a known variant, clinicians can test relatives for the same single-letter genetic change through cascade testing rather than relying only on broader sequencing.

The program grew from referrals involving children of patients tested through Markey Cancer Center, UK HealthCare’s National Cancer Institute-designated Comprehensive Cancer Center. It is linked to the Pediatric, Adolescent and Young Adult Inherited Cancer Predisposition Service, which provides personalized care for patients with inherited cancer syndromes. The project has also expanded through collaboration with Norton Children’s Hospital in Louisville.

The team follows National Comprehensive Cancer Network (NCCN) guidelines for documented gene variants and works with families on screening timing and frequency. Counseling, educational toolkits, and patient support are tailored to each family. The program also includes a pediatric germline molecular tumor board involving oncologists, researchers, sequencers, genetic counselors, and ethicists.

“We can miss about half of these patients that have an inherited cancer risk just by relying on clinical clues. My idea was to start a clinical study and offer it to patients who have been impacted by pediatric and young adult cancers and look for whether or not they might have one of these cancer syndromes because that information can affect how we treat them. It also has very big implications for the rest of the family,” said John A. D’Orazio, M.D., Ph.D., chief of pediatric oncology and principal investigator of PICR.

Related Links
UK College of Medicine
Golisano Children’s at UK