“Nobody else is doing this around here.”
When a family faces a pediatric cancer diagnosis at Kentucky Children’s Hospital, it’s always life-changing. But those diagnoses can sometimes mean something even more serious: a hidden genetic syndrome that makes that child and their family more susceptible to certain types of cancers.
“In the past, our ability to identify patients with these syndromes has relied on an astute clinician catching the clinical clues,” said Dr. John D’Orazio, a pediatric oncologist at Kentucky Children’s Hospital. “Cancer at an early age. Too much cancer in the family. Certain kinds of tumors that are over-diagnosed in the family. We realized that we can really make much more of an impact in the survival of patients with these kinds of conditions by trying to catch things early. So we started Project Inherited Cancer Risk.”
Project Inherited Cancer Risk offers every newly-diagnosed pediatric cancer patient at Kentucky Children’s Hospital access to DNA sequencing to look for more than 150 inherited cancer genes. If one of those genetic markers comes back positive, Kentucky Children’s Hospital and Markey Cancer Center can develop an individualized care plan for that child and their family.
“But what's the sense of finding out about it if you can't do anything about it?” asked Dr. D’Orazio. “So in January of 2020, we opened a multidisciplinary clinical service to take care of patients with these syndromes. Each one needs a personalized care plan. We have that capacity to now care for these kids.”
That care comes from the Pediatric Adolescent and Young Adult Inherited Cancer Predisposition Service, located within the DanceBlue Hematology/Oncology Clinic, led by pediatric oncologist Dr. Amanda Harrington and Markey Cancer Center genetics counselor Terra Lucas. The clinic offers genetic counseling and comprehensive services including social work, Child Life support, school intervention, and nutrition counseling to support the entire family.
“The way that I envision it is that these children and families will continue to come in over time, and we'll continue to talk with them about what this means through each stage of life,” said Terra. “I also work at Markey Cancer Center, and I’m going to be able to help transition some of these kids into the adult screening programs and high-risk clinics we have. Because through each stage of life, these genetic syndromes are going to have different impacts on them mentally, physically, and socially, and we always want to address that.”
That kind of long-term relationship is exactly what patients like Christa Childers are benefiting from. Christa, who was diagnosed with Li-Fraumeni Syndrome years after surviving childhood cancer, is on a regular screening protocol that has already caught at least one early-stage cancer. “There was a study published in The Lancet that looked at 89 Li-Fraumeni patients,” said Dr. D’Orazio. “Half of them more or less followed the surveillance guidance, and half of them didn’t. There was a marked difference in overall survival at five years, because a lot of asymptomatic, early-stage tumors were found by screenings before they progressed, presented at an advanced stage, and became a huge problem. So it really does make a difference.”
“This is the future of medicine,” said Christa. “Genetics is going to start playing a big role in the kind of treatments you receive and how medications affect your body and your treatment. And it really is beneficial to have a team of people helping you who are on your side and aware of what’s going on with you and helping you look out for those things.”
“We're very well positioned to really comprehensively take care of those kids, because there's nowhere else that they get this kind of care around here,” said Dr. D’Orazio. “A program our size—nobody else is doing this. We’re very fortunate to have the backing of philanthropy and UK HealthCare to be able to offer these more comprehensive services.”
“To be able to give these patients and families a medical home for this kind of surveillance is potentially life-changing,” said Dr. Harrington. “I think otherwise families are left searching on their own or traveling long distances for someone to provide this type of comprehensive care. I’m thankful we have the resources, the leadership, and the support to be able to provide this kind of specialized care clinic right here in Kentucky.”
