05/14/2026
New research led by Riley Children’s Health clinicians Matthew Durbin, MD, neonatologist, and Stephanie Ware, MD, PhD, geneticist, is helping shape the future of genetic testing for neonates with congenital heart disease, examining how rapid genome sequencing may improve diagnostic accuracy, speed, and clinical decision-making.
Building on prior studies evaluating standardized genetic testing in this population, Dr. Durbin and colleagues continue to advance neonatal precision medicine by assessing whether rapid genome sequencing is ready to replace chromosome microarray as first‑line testing for hospitalized infants with CHD—and what this shift could mean for care delivery, clinical workflows, and future guidelines.
How does this study fit into a broader research program in neonatal precision medicine?
This study builds directly on Durbin and colleagues’ prior efforts to standardize genetic testing for neonates with congenital heart disease and move the field toward a precision medicine standard of care. Earlier work demonstrated that genetic diagnoses are common in this population but inconsistently identified across institutions, and that implementing standardized testing protocols at Riley Children’s Health substantially increased detection without sacrificing diagnostic yield.
The Circulation: Genomic and Precision Medicine study represents the next step in that progression: evaluating whether rapid genome sequencing is ready to replace chromosome microarray as first‑line testing as technology advances. By assessing real‑world implementation at a high‑volume center, the research adds practical evidence to inform clinical adoption and future guideline development.
How has Riley Children’s Health led this effort?
Riley Children’s has consistently been at the forefront of genetics evaluation for infants with CHD, among the first centers to implement universal chromosome microarray, and now one of the few reporting real-world outcomes from a systematic transition to rapid genome sequencing. As Indiana's primary Level IV NICU referral center, their patient population reflects the full severity spectrum, and our ability to study the same cohort across two technology eras is unique and valuable.
What differentiates Riley Children’s is the ecosystem around that testing program. The cardiac NICU is one of the first of its kind, where neonatology, cardiac intensive care, cardiac surgery and cardiology round together on newborns with CHD as a fully integrated team. That clinical infrastructure is paired with a robust cardiovascular genetics program established by Stephanie Ware, MD, PhD. Riley Children’s has one of the first and leading cardiovascular genetics programs in the nation, with clinical geneticists playing a central role in the research and implementation of genomic care. The technology matters, but durable clinical impact comes from teams built around shared protocols and a shared culture of caring for newborns with CHD.
How might this research inform future guidelines, protocols, or multicenter efforts?
The evidence base supports the claim that universal genetic testing, preferably with genome sequencing, for all hospitalized neonates with CHD should become the standard of care recommendation. What this study adds is a real-world implementation dataset showing that the transition from microarray to rGS is feasible at a high-volume center and that the diagnostic yield justifies the test. Longer term, the field needs prospective outcome data, linking early genetic diagnosis to outcomes, resource utilization and family-level impact, which requires multicenter collaboration. This kind of foundational, single-center work helps drive greater efforts.
This work highlights genetic testing as an increasingly central and universally warranted part of caring for neonates with congenital heart disease and reinforces Riley Children’s Health’s role in advancing evidence‑based implementation. Durbin’s research demonstrates that genetic conditions are common in this population and that standardized, first‑line approaches, particularly rapid genome sequencing, can improve diagnostic capture and enable earlier, more informed clinical decision making.
As genomic technologies continue to evolve, Riley Children’s multidisciplinary model provides a practical framework for integrating rapid genome sequencing into routine care, helping define how neonatal precision medicine can be applied consistently and at scale.
To learn more about Riley Children’s neonatology and cardiovascular programs, research and clinical breakthroughs, read the annual report.
