Expert support for a life-changing diagnosis
A rising number of cancer cases in children and young adults are linked to a genetic predisposition to cancer. Kentucky Children’s Hospital created a new clinic to address this issue.
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 clinical clues,” said Dr. John D’Orazio, Chief of Pediatric Hematology/Oncology 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 make much more of an impact in the survival of patients with these kinds of conditions by trying to catch things early.”
“A program our size — nobody else is doing this.”
Dr. John D’Orazio
Searching for – and treating – cancers
That’s how Project Inherited Cancer Risk began. It offers every pediatric and young adult cancer patient at Kentucky Children’s Hospital access to DNA sequencing to look for dozens of inherited cancer genes. If one of those genetic markers comes back positive, Kentucky Children’s Hospital and UK Markey Cancer Center can develop an individualized care plan for that child and their family.
In January 2020, the Pediatric Adolescent and Young Adult Inherited Cancer Predisposition Service, located within the DanceBlue Hematology/Oncology Clinic, was launched. It is led by pediatric oncologist Dr. Amanda Harrington and Markey Cancer Center genetics counselor Terra Armstrong. Social workers, child life specialists, nurse navigators, dietitians, financial counselors and school intervention specialists are critical to the comprehensive care of patients and families and are embedded in this clinic.
Early detection, better outcomes
About 8 to 10 percent of children and young adults diagnosed with cancer have an inherited cancer gene. Because 75 to 80 percent of children with cancer survive their first cancer, patients with hereditary cancer syndromes may be at risk for future cancers. Knowing about that risk is critical to their long-term health outcomes and can guide future treatment and management options.
A patient at high risk for colorectal cancer, for example, may begin screening in the teenage years, and they may be prone to other types of cancer in childhood. If a patient has a genetic mutation that predisposes them to melanoma, then they would undergo frequent screenings, and photos of changing moles would be regularly reviewed. These steps help detect cancer in its earliest, most treatable stages.
Ongoing testing isn’t the only option for children who are predisposed to cancer; sometimes, pre-emptive surgery may be recommended to remove tissues at very high risk of cancer. The goal of the program is to identify affected patients as early as possible to offer them comprehensive cancer preventive and surveillance care.
“To be able to give these patients and families a medical home for this kind of surveillance is potentially lifechanging,” Harrington said.
Comprehensive care at each stage of life
The clinic currently sees around six to 10 patients a month, but D’Orazio said that he expects that number to grow as more patients and family members are identified with cancer predisposition syndromes.
“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,” Armstrong said. “I’m going to be able to help transition some of these kids into the adult screening programs and high-risk clinics we have.”
In August 2021, the program began to offer germline cancer risk assessment to patients currently undergoing cancer therapy in the DanceBlue Pediatric Oncology Clinic. Now, it is being offered to all pediatric, adolescent and young adult patients who have been through UK HealthCare’s doors for cancer treatment. Another important aspect of the program is to identify research opportunities to learn how certain genetic mutations cause cancer. The team isn’t just looking for cancer genes – they’re also looking at genes for other medical issues, like heart failure. If one of these issues is detected, providers can then refer the patient to the appropriate specialist, in addition to tailoring their treatments with the genetic mutation in mind.
“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,” D’Orazio said. “A program our size — nobody else is doing this.”
