GeneDx CEO on a Mission: Ending the 'Diagnostic Odyssey' for Rare Diseases
From Years to Days: The Genomic Revolution in Newborn and Pediatric Care
The journey from Friedrich Miescher's discovery of DNA to today's clinical genomics has been long, but the pace of change is now explosive. Since the completion of the Human Genome Project, the ability to read and interpret our genetic blueprint has moved from the research lab to the frontline of medicine. Nowhere is this shift more impactful—or more urgent—than in the diagnosis of rare genetic diseases in children.
For families navigating unexplained symptoms in a child, the path to an answer has historically been a protracted "diagnostic odyssey," involving countless specialists, invasive procedures, and agonizing uncertainty, often lasting five years or more. This delay carries a staggering human and economic cost, estimated to burden the U.S. healthcare system with nearly a trillion dollars annually in unnecessary spending.
Enter GeneDx, a company founded 25 years ago at the National Institutes of Health (NIH). By leveraging whole exome and genome sequencing, GeneDx is compressing that diagnostic marathon into a sprint. The company has tested over 2.5 million patients and can now deliver a clinically actionable result in as little as 48 hours.
"Our mission is to eradicate that five-year diagnostic odyssey," says CEO Katherine Stueland in an exclusive interview. "We're able to take a genome's worth of information and distill it into an answer for a family."
The Data-Driven Flywheel: Diagnosis, Data, and Future Cures
The value proposition is twofold. First, a rapid diagnosis ends the family's crisis mode, allowing for targeted interventions—whether that's a specific therapy, dietary change, or connection to a supportive community—even when a cure isn't yet available. Second, each test adds to GeneDx's proprietary database, called Infinity. This growing repository of genetic data is becoming invaluable for discovering new gene-disease links and helping biopharma companies identify patient populations for targeted drug development.
"We are actually making new gene-disease discoveries," Stueland notes. "In some cases, we're finding the prevalence of a disease might be three to five times larger than originally thought. That changes the game for companies trying to develop treatments."
Adoption is accelerating. Over 80% of U.S. lives are now covered for this testing through commercial and Medicaid contracts, driven by compelling health economics. Studies show upfront genomic testing in neonatal intensive care units (NICUs) can save $30,000-$40,000 per case by eliminating rounds of misdirected tests and hospitalizations. Thirty-six states now cover outpatient testing, with 17 covering it in the NICU. A landmark shift is on the horizon in Florida, which is moving forward with a genomic newborn screening program based on GeneDx's Guardian Study in New York.
Overcoming the Last Hurdles: Education and Access
The remaining challenge is cultural and clinical workflow integration. "Fewer than five percent of babies in the NICU get a genetic test today," Stueland says, citing work with researchers like Dr. Mike Bamshad at Seattle Children's, whose SeqFirst study found 60% of babies in a level 4 NICU would benefit. "There's a lot of education we have to do."
GeneDx is investing in integrating its testing compendium into major electronic health record systems like Epic and streamlining the ordering process to a "one-minute" experience for physicians. Updated guidelines from the American Academy of Pediatrics, recommending earlier use of genomic testing, are expected to drive adoption over the next 18-24 months.
Looking ahead, Stueland sees a future where proactive, predictive genomic screening at birth becomes standard, preventing years of unnecessary disease progression. "The status quo today is totally unacceptable," she states emphatically. "We are letting these kids not just be sick, but get sicker. You can't treat it if you can't diagnose it. We're going to continue to diagnose as early as possible to give these families help."
Voices from the Community
"Finally, a pragmatic approach that cuts through the noise. As a pediatrician, I've seen too many families broken by the diagnostic runaround. Turning a five-year wait into a 48-hour answer isn't just innovation; it's a moral imperative." – Dr. Anya Sharma, Pediatric Neurologist, Boston Children's Hospital
"This gives me hope, but also immense frustration. Why has it taken this long? How many children have suffered needlessly while the system clung to outdated, piecemeal testing? The technology existed; the will to implement it system-wide did not." – Marcus Thorne, Parent Advocate and Founder, The Rare Journey Foundation
"The health economic argument is irrefutable. This is a rare case where better patient outcomes align perfectly with reducing systemic waste. Payers are right to get behind it; it's simply smarter medicine." – David Chen, MPH, Healthcare Policy Analyst
"The Infinity database is the unsung hero here. Every diagnosis adds a piece to the puzzle, accelerating research for everyone. This creates a powerful virtuous cycle that benefits future patients exponentially." – Dr. Evelyn Reed, Genomic Data Scientist, Broad Institute
This analysis is based on an exclusive interview with GeneDx CEO Katherine Stueland.