Long diagnostic journeys for rare diseases do more than delay treatment. They can generate substantial avoidable costs for families, health systems and payers, according to an argument by Kengo Takishima, chairman and chief executive of Baylor Genetics, who contends that the financial burden of waiting for an answer deserves as much attention as the time itself.
Rare diseases affect roughly one in ten Americans. For many of those patients, the path to a correct diagnosis, sometimes described as a diagnostic odyssey, averages more than $220,000 in avoidable fees and lost income. Each prolonged diagnosis tends to trigger additional appointments, referrals and procedures, while repeated testing and specialist bottlenecks strain clinical capacity and lengthen waiting periods for everyone in the system.
The remedy Takishima proposes is a genome-first model in which whole genome sequencing serves as the initial diagnostic test rather than a last resort after other options have been exhausted. Under this approach, clinicians would turn to genomic data earlier, with the aim of shortening the search for an explanation and reducing the number of tests that return little useful information.
To illustrate the cost of delay, the article describes a six-year-old child with uncontrolled seizures and developmental delay. An brain MRI and an EEG performed at six months and again at three years were uninformative. Sequencing at age six identified an SCN1A-related seizure disorder. The main tests conducted before that point totaled about $12,800, and according to the analysis, earlier sequencing could have saved about $8,900 of that amount. The figures do not include the costs of medication, specialist visits or emergency care, which would likely increase the total.
The case points to several benefits the author associates with an earlier genomic approach. A shorter diagnostic odyssey could mean fewer uninformative tests. Once a variant is identified in one patient, family members may be able to receive targeted testing rather than starting their own searches from scratch. The author also argues that rapid sequencing in neonatal and pediatric intensive care units may shorten hospital stays, with one cited study estimating inpatient savings of $5.8 million to $7.8 million under private payers.
Several important caveats temper these claims. The savings estimates rest on modeling and on a single illustrative case rather than on broad population data. The inpatient figures come from one study whose findings have not been broadly confirmed. Readers should therefore treat the projected savings as indicative of a potential benefit rather than as established results across the rare disease population.
Still, the core argument highlights a shift in how the cost of rare disease is measured. By focusing on the expenses that accumulate during a long search for a diagnosis, the piece makes the case that earlier genomic testing could ease pressure on families and on a clinical system already stretched by repeated tests, referrals and waits.