Through a groundbreaking study led by Matthew Durbin, MD, a neonatologist at Riley Children’s Health, newborn patients are benefiting from novel discoveries around genetic evaluation. In collaboration with specialists at Riley Children’s including Gabrielle C. Geddes, MD, Benjamin J. Landis, MD and Stephanie M. Ware, MD, PhD, they are reshaping the approach to congenital heart disease (CHD) management in pediatric patients, and here’s how.
The retrospective, cross-sectional study, as published on PubMed, aimed to evaluate the genetic makeup in newborns before and after the implantation of institutional testing guidelines, which were initially developed in 2014. Looking at 664 patients at Riley Children’s with CHD, the team analyzed the evolving landscape of the genetics of those babies, considering factors such as time and patient subtypes. What emerged was a comprehensive understanding of how genetic testing guidelines have profoundly impacted the pediatric care landscape to what it is today.
Following the formation of these genetic testing guidelines, the prevalence of this genetic testing approach has since increased from 40% to a significant 75%. In addition, the study found increased involvement from geneticists themselves–going from 24% involvement to 64%–which underscored the collaborative nature of this transformative shift. Moreover, results found a notable difference regarding the sequence-based methods, including the increased use of chromosomal microarray, gene panels and exome sequencing. The testing yield remained consistently high across years and patient subtypes, contributing to a remarkable 29% increase in identified genetic diagnoses.
“These findings mark a major step in approaching genetic testing guidelines for newborns with congenital heart defects,” Dr. Durbin said. “They not only determine the landscape for pediatric care, but also allow us to think more strategically about how to evolve these guidelines to enhance patient care as a whole.”
Of the 664 participants, 534 newborns had isolated CHD, while 130 had CHD accompanied by multiple congenital anomalies. As a result of the study, the American Heart Association has updated its guidelines to reinforce the pivotal role of genetic testing for those children and patients alike.
Overall, the insights of the study recognize the importance of genetic testing rates and yields. Moving forward, experts at Riley Children’s will continue evolving their guidelines to advance the care models for patients experiencing cardiac diseases.
About cardiovascular genetics at Riley Children’s
Through the esteemed Riley Heart Center, the cardiovascular genetics program at Riley Children’s provides appropriate evaluations and genetic counseling and testing to treat children with heritable heart conditions. Additionally, our CV geneticists, alongside multidisciplinary specialists, are nationally recognized by the Cardiovascular Malformations Consortium, a highly collaborative alliance of outstanding academic pediatric genetic centers. To learn more about CV genetics or the Riley Heart Center, read the annual report.
