Jane Engelberg Memorial Fellowship Winner Will Investigate Value of Pediatric Genetic Counseling Services
Although 30-40% of children with epilepsy have an identifiable genetic link to the condition, many patients don’t seek or have access to genetic counseling services. A new study being previewed at the National Society of Genetic Counselors (NSGC) 40th Annual Conference aims to address this issue by investigating the clinical effect of genetic counseling on health outcomes for children with epilepsy.
The study is supported by the Jane Engelberg Memorial Fellowship (JEMF), a prestigious award given by NSGC to the study researcher in 2020. Research is underway and is expected to be completed in summer 2022.
“Genetics often comes at the end of the diagnostic process, almost as an afterthought, and there are no standards or guidelines for genetic testing in individuals with epilepsy,” said Katherine Helbig, MS, LCGC, senior director of Frontier Programs at Children's Hospital of Philadelphia (CHOP) and lead author of the study. “Reimbursement for genetic services is highly variable, and the hope with this work is to demonstrate a measurable value for genetic services for pediatric epilepsy. I expect that our work will also draw attention to the field of epilepsy research, which is underfunded and underrecognized.”
To assess the impact of genetic counseling on this patient population, researchers are currently analyzing more than 20,000 electronic health records of children with epilepsy who received care during a 10-year period (2010-2020) at CHOP to determine whether genetic counseling improves health outcomes and fosters health care system use in children with epilepsy. The research focuses on individuals with epilepsy and a genetic diagnosis, a population of about 4,000 at CHOP during this time period.
The study is also assessing whether such genetic services, especially when involving genetic counselors, can help close the gap in health outcomes for children with epilepsy who are racial/ethnic minorities or from low socioeconomic backgrounds as compared to white patients or patients from higher socioeconomic backgrounds. Disparities include increased health care expenditures, poorer outcomes, and additional barriers in accessing routine and specialist medical care. The study is investigating whether genetic testing and a genetic diagnosis can level the playing field by increasing access to more equitable care.
“In clinical practice, we have seen that care for children with a genetic diagnosis is better coordinated when a genetic counselor is part of the care team,” said Helbig. “This study provides an opportunity to systematically assess the impact of genetic counseling on children with epilepsy.”