The $80,000 clue hiding in plain sight in U.S. healthcare

American healthcare faces a persistent paradox: We have extraordinary medical technology, yet patients often spend years navigating a system that treats symptoms before identifying the underlying cause of disease.

This dynamic is especially pronounced for children with neurological conditions such as epilepsy, developmental delay, and intellectual disability. Many families endure years of hospitalizations, emergency room visits, specialist referrals, and inconclusive tests before receiving a definitive diagnosis. Clinicians often refer to this prolonged journey as the “diagnostic odyssey.” It is emotionally draining for families and deeply frustrating for physicians trying to guide care.

It is also extraordinarily expensive.

When the root cause of a condition remains unclear, care tends to become episodic and reactive. Children cycle through emergency departments, hospital stays, and repeated testing as clinicians attempt to manage symptoms without the benefit of a clear diagnosis.

A TOOL THAT ALREADY EXISTS

What makes this challenge particularly striking is that healthcare already has a powerful tool to help solve it.

Genomic sequencing, including exome and genome sequencing, is that tool. It is like reading the entire instruction manual for a living thing by figuring out the exact order of the chemical letters that make up its DNA. It enables clinicians to analyze thousands of genes simultaneously to potentially identify genetic causes of disease. Over the past decade, these technologies have advanced dramatically. Testing is faster, more accurate, and more widely available than ever before.

Clinical guidelines increasingly recommend genomic sequencing as a first-tier test for many children with neurological symptoms. Yet in practice, genomic testing is still often ordered only after years of inconclusive testing and ineffective treatment.

In other words, the technology exists—but it is not consistently used early enough in the care journey to realize its full potential.

THE HIDDEN COST OF DELAYED DIAGNOSIS

Recent real-world evidence illustrates what happens when genomic insights are introduced earlier.

In an analysis examining healthcare utilization among children with neurological disorders, our researchers found that overall healthcare costs declined significantly in the year following genomic sequencing. For children with epilepsy, total healthcare costs dropped by as much as 61%, representing nearly $80,000 in average savings per child annually.

These savings were not the result of reduced care. Instead, they reflected a shift in how care was delivered.

Hospitalizations and emergency room visits declined dramatically, while outpatient visits and medication management increased modestly. In other words, care moved away from expensive acute interventions and toward more targeted, proactive management.

This is precisely the kind of shift health systems aim to achieve—delivering the right care earlier, before conditions escalate into costly medical crises.

WHY MEDICAID HAS THE MOST TO GAIN

The implications of this shift are particularly significant for Medicaid.

Children with complex neurological conditions often rely heavily on publicly-funded healthcare programs. When diagnoses are delayed, repeated hospitalizations and emergency care can quickly drive up costs for state Medicaid systems.

Earlier access to genomic testing can help change that trajectory. When clinicians understand the genetic drivers of disease sooner, they can guide treatment decisions more effectively, coordinate care more efficiently, and avoid unnecessary interventions.

For states balancing limited Medicaid budgets, technologies that both improve outcomes and reduce avoidable spending deserve serious attention.

THE REAL BARRIER IS IMPLEMENTATION

The challenge today is no longer technological capability. Genomic sequencing is broadly available, and many clinicians who care for children with neurological symptoms—including pediatricians, neurologists, neonatologists, and physicians in intensive care settings—already have the ability to order these tests.

Yet adoption remains uneven and underutilized across healthcare settings.

A child treated at a large academic medical center may receive genomic testing early in the diagnostic process. Another child with the same symptoms seen in a community setting may wait years before testing is considered.

Precision medicine should not depend on geography, referral pathways, or institutional resources.

A SMARTER PATH FORWARD

If we believe in a healthcare system that is serious about improving outcomes while managing costs, we must focus on ensuring that proven diagnostic tools are available wherever care is delivered.

Genomic sequencing offers a rare alignment of incentives in modern healthcare. It can deliver answers faster for families, provide clinicians with more precise information to guide care, and help health systems allocate resources more efficiently.

Opportunities like this are uncommon in medicine.

When a technology improves care and reduces costs at the same time, the real question is not whether we can use it, but rather why it is not used broadly as standard of care.

Linda Genen, MD, MPH is chief medical officer at GeneDx.