Close the gap in pediatric genomic care

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 Ame