Why diagnostic delays cost more than time
The cost of delayed diagnosis in rare disease is often measured in years. It should also be measured in dollars, clinical capacity, and missed opportunities for better care.
Rare disease affects 1 in 10 Americans, and on average, the diagnostic odyssey for a patient with rare disease costs over $220,000 in avoidable medical fees and lost income. It’s significant time and money that patients and families can’t afford to lose. And it doesn’t end there.
The downstream economic impacts are also costly. Every prolonged diagnosis can trigger a cascade of additional appointments, referrals, and procedures that consume resources. Rounds of tests, specialist bottlenecks, and administrative burden intensify the longer a patient goes without a diagnosis. This reduces clinical capacity and extends wait times for patient care.
Currently, patients often navigate years of uncertainty before accessing information that could meaningfully change their care. That model is increasingly difficult to justify.
This is why a genome-first healthcare system is so compelling. A genome-first approach, where whole genome sequencing (WGS) is used as a first-line test and not a last resort, is helping redefine personalized care for patients with rare diseases. For me, this is where the field is headed. Starting with the genome gives us a more complete view from the outset. When combined with other data, it may bring us closer to answers that many families have been waiting too long to receive. It’s about using technology with purpose to move care forward for patients seeking answers.
PUT COSTS INTO PERSPECTIVEHere’s an example of how costs may be lowered with whole genome sequencing. Consider a six-year-old with a history of uncontrolled seizures and global developmental delay. A brain MRI and EEG were performed when the child was six months old and again at three years old. These did not provide answers about his symptoms. It wasn’t until he had WGS at age six that he tested positive for a genetic change that explained his symptoms. He has SCN1A-related seizure disorder. That diagnosis provided the clarity needed to personalize his treatment plan and transform his long-term care, including both medication and dietary changes.
In this example, the total estimated costs for just the main tests performed were $12,800. Repetitive testing costs can add up fast, and it can be particularly discouraging when the testing results are uninformative. Had WGS been offered earlier in this patient’s journey, the estimated savings would have been approximately $8,900 in testing costs alone. But we also can’t forget other costs not captured here, such as medications, specialist appointments, and potentially avoidable emergency visits and hospitalizations. These additional costs can compound quickly over time.
THE WGS BENEFITSIncreasingly, healthcare systems should question if they can afford not to use WGS earlier.
The potential benefits of doing so in patient care are clear. It can help shorten the diagnostic odyssey, minimize repetitive or uninformative tests, enable more informed medical management, and lower long-term health costs. An earlier diagnosis can also inform targeted testing for family members to understand any symptoms they may have or their own risk for that condition.
For healthcare providers and health systems, WGS can improve operational efficiency by streamlining diagnostic workflows, ultimately helping clinicians make more informed decisions sooner and minimizing unnecessary testing rounds. In acute care settings, particularly neonatal and pediatric intensive care units, rapid WGS (rWGS) can accelerate clinical decision-making and shorten hospital stays. This can generate meaningful cost savings while improving patient outcomes.
In fact, a recent study found that rWGS as a first-line test is likely to significantly reduce the cost of acute care in a private payer system. The analysis estimated a reduction of $5.8 million to $7.8 million in inpatient payments due to rWGS results and avoided inpatient days.
Every industry eventually reaches a point where a long-standing process no longer fits its purpose. Healthcare is approaching that moment with diagnostics for rare disease. A system built around sequential testing and years of uncertainty is increasingly being challenged by a model that starts with a more comprehensive understanding of the patient. I believe the organizations that embrace that shift will be better positioned to improve outcomes, reduce waste, and deliver a more efficient patient experience.
Kengo Takishima is chairman and chief executive officer of Baylor Genetics.