Key takeaways
- The LEAD Project is focused on helping pediatricians integrate genomic testing earlier into routine care for children with global developmental delay and related neurodevelopmental conditions.
- GeneDx will support clinician education, testing workflows, and implementation resources as part of a national pilot program.
- The initiative aims to help bridge the gap between genomic testing recommendations and practical implementation in pediatric settings.
Bringing genomic testing earlier into pediatric care
The LEAD Project brings together partners across healthcare, education, advocacy, and industry with a shared goal: supporting earlier identification of genetic conditions and helping clinicians translate evolving genomic medicine recommendations into practical, real-world workflows.
As part of the collaboration, Cure NDD is the nonprofit host leading stakeholder engagement and clinic recruitment, while BioLogic Pharma Solutions leads project execution and management. GeneDx serves as the implementation partner, providing clinician education, supporting testing workflows, and contributing to project outputs. The initiative will also explore scalable implementation approaches, including clinician education, tele-genetics integration, and workflow resources to support adoption in pediatric practices.
Why earlier genomic testing matters for children with developmental delay
The need for earlier access to genomic testing is significant. Neurodevelopmental disorders, including global developmental delay, autism, and epilepsy, affect approximately one in six children. Yet many families face a long and often frustrating diagnostic journey before receiving answers. On average, patients with a rare disease wait about five years for a diagnosis, navigating multiple appointments, referrals, tests, and uncertainty along the way. During that time, opportunities for targeted interventions, treatment planning, clinical trial participation, and connections to support services may be delayed.
Earlier genomic testing has the potential to change that trajectory. By identifying an underlying genetic cause sooner, clinicians can make more informed care decisions, avoid unnecessary interventions, and help families access appropriate specialists, treatments, support resources, and clinical trials sooner. The LEAD Project is focused on helping pediatricians incorporate genomic testing earlier in the evaluation process so that more children can receive answers and access to care without years of uncertainty.
Bridging genomic testing guidelines and clinical practice
Recent guidance from the American Academy of Pediatrics recommends exome or genome sequencing as first-tier testing for many children with global developmental delay or intellectual disability because of its superior diagnostic yield and cost effectiveness when used earlier in the diagnostic process.¹
The LEAD Project is designed to help bridge the gap between these recommendations and real-world implementation in pediatric settings.
Through the project, GeneDx will help deliver training and educational support to participating sites as part of a national pilot program focused on integrating first-line genomic testing into pediatric primary care. The pilot includes practices across multiple states, with a focus on sites that have limited access to genetics specialists.
Supporting genomic testing implementation in pediatric practices
"At Biologic Pharma Solutions, we have a shared commitment with GeneDx to improve outcomes for children with neurodevelopmental disorders,” said Mary Hames, PhD, EMBA, Founder & CEO, BioLogic Pharma Solutions. “Their support strengthens the LEAD Project’s ability to work alongside pediatric practices to better understand barriers to genomic testing and develop practical solutions that help more families access timely diagnoses. We're excited to have GeneDx as a partner in this important effort.”
“As a caregiver for a loved one with an X-linked neurodevelopmental disorder, I know firsthand what it means for a family to spend years searching for an accurate diagnosis. As a researcher in child development, I also understand that pediatricians want to help—but often lack the time, resources, and hands-on support to navigate genomic testing. LEAD brings these perspectives together,” said Jin Lee, Ph.D, Cure NDD Founder. “Our goal is simple: identify what is standing between children and timely genomic diagnosis, and give pediatricians the tools to overcome those barriers. GeneDx’s support will help us bring this effort to more pediatric practices and, ultimately, help more children and families get answers sooner.”
In addition to education, the initiative aims to develop practical tools that can make it easier for pediatricians to incorporate genetic testing into care workflows. Planned resources include implementation pathways, educational materials, workflow support, and other tools designed to help clinicians navigate testing and follow-up care more confidently.
Expanding access to genomic testing through the LEAD Project
At GeneDx, we believe that earlier access to genomic insights can help clinicians make more informed decisions and connect families with the resources, specialists, and support they need. We're excited to collaborate with partners across the LEAD Project as we work toward expanding access to evidence-based genomic testing in pediatric care.
