We are at an inflection point in pediatric healthcare. Across the U.S., health plans are increasingly recognizing the clinical and economic value of genomic testing. Policies are expanding. Coverage is improving. For families navigating complex, often unexplained conditions, that progress matters.
But coverage alone does not guarantee care. As a physician who has practiced at the bedside and worked within the payer system, I’ve seen this gap from both sides.
For children with suspected rare diseases, access to timely genomic testing remains uneven and, too often, out of reach. Too many families are left stranded in the gap between what insurance covers on paper and what they can access in reality—and where the system still falls short.
THE HIDDEN FRICTION BETWEEN POLICY AND PRACTICE
In theory, a covered benefit should translate into a clear path to care. In reality, families encounter a maze of operational hurdles that can delay or derail testing altogether. Today, according to our 2025 analysis of commercial payer coverage policies, over 92% of commercial lives in the U.S. are under policies that cover exome sequencing, and coverage for genome sequencing is expanding rapidly. But even when tests are covered, the criteria for approval are often narrow, making the path to access far more challenging than the coverage numbers suggest.
A child whose epilepsy presents at four months may be approved. Another, whose seizures begin at 13 months, may not, because of an arbitrary coverage threshold. Some payers will only reimburse exome or genome sequencing when ordered by a medical geneticist—a requirement that directly contradicts the American Academy of Pediatrics (AAP) clinical guidelines and creates a bottleneck for the general pediatricians increasingly called upon to order these tests. Others require a series of prior genetic tests in a stepwise fashion before they will authorize an exome or genome, an approach at odds with guidance from both the AAP and the American College of Medical Genetics and Genomics.
Prior authorization is one of the most persistent barriers. While intended to ensure appropriate use, it frequently introduces delays that are misaligned with the urgency of pediatric care. Most payers require prior authorization to be completed by the ordering provider before a sample is even collected, putting an unnecessary burden on both the family and the clinician. For a child with a suspected genetic condition, time is not neutral. Each week without answers can mean missed interventions, unnecessary procedures, or avoidable hospitalizations, and an increasing emotional burden on families.
For many families, even “one more appointment” is not a simple ask. Children with complex conditions often require coordinated care across multiple specialists. They may have mobility challenges, compromised immune systems, or intensive daily care needs. Taking additional time off work, arranging transportation, or managing another clinical visit can be burdensome, if not prohibitive. Research bears this out: Studies show that when a sample is not collected during the initial clinical visit, patient attrition is substantial. Up to one in four families never complete testing, even after obtaining prior authorization. Extra steps and delays inconvenience families, but also can cause patients to fall out of the system entirely.
The result is a paradox: testing that is technically covered, but practically inaccessible.
THE COST OF DELAY
The diagnostic odyssey for rare disease patients is already prolonged—on average, five years. Delays introduced by administrative processes compound that burden.
Without timely diagnosis, care becomes reactive rather than precise. Families may cycle through inconclusive tests, trial-and-error treatments, and repeated hospital visits. Clinicians are left to make decisions without the clarity that genomic insights can provide. And health systems absorb the downstream costs of inefficiency.
We know that earlier, accurate diagnosis can change this trajectory. It enables targeted care, informs treatment decisions, and reduces unnecessary utilization. In many cases, it can alter the course of a child’s life.
FROM COVERAGE TO REAL ACCESS
If we truly want precision medicine to make a difference, it’s not enough for tests to be “covered” by insurance. They need to be accessible and easy for families to obtain. Coverage should be the starting point, not the finish line.
That means making practical changes that reduce friction for families and clinicians alike:
- Align coverage policies with current clinical guidelines from organizations such as the AAP and the American College of Medical Genetics and Genomics.
- Reduce unnecessary prior authorization requirements for guideline-supported genomic testing, particularly in pediatric rare disease cases where delays can have lifelong consequences.
- Allow qualified pediatric specialists and general pediatricians to order testing, and remove policy requirements stipulating that only medical geneticists can order this testing when clinically appropriate.
- Simplify and standardize payer requirements across plans to reduce administrative burden on clinicians and confusion for families.
- Recognize rapid exome and genome sequencing as medically necessary in acute pediatric settings where timely diagnosis can directly impact treatment decisions and outcomes.
- Invest in operational models and partnerships that help families navigate testing, authorization, and follow-up care more seamlessly.
At its core, this is about putting families first: building a system that helps them get answers, not one that slows them down.
A SHARED RESPONSIBILITY
Closing the access gap is not the responsibility of any one stakeholder. It requires coordination across payers, providers, laboratories, and policymakers.
Encouragingly, we are seeing momentum. Coverage expansions continue to signal growing recognition of genomic medicine’s value. This year alone, several states have added Medicaid coverage for exome sequencing, and genome coverage is poised to extend to nearly 80% of commercial lives by mid-2026. But as coverage grows, so does the urgency of ensuring it translates into real access. Broader coverage that leaves the barriers in place simply widens the gap between what patients are promised and what they actually receive.
For children with rare diseases, every moment matters. We cannot afford to let operational barriers prolong an already difficult journey.
An accurate diagnosis changes everything. Our healthcare system should make that outcome not just possible, but accessible.
Linda Genen, MD, MPH is chief medical officer of GeneDx.
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