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.

Here’s an example of how costs may be lowered with whole genome sequencing.

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