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…
Delayed diagnosis of rare diseases costs more than just time, it comes with dollars, clinical capacity and missed opportunities for improved care. Rare diseases affect 10% of Americans and patients often undergo over $220,000 in unnecessary medical expenses and lost income due to a slow diagnostic process. The effects of this are far-reaching, triggering additional appointments, referrals, and procedures that strain resources, increase wait times, and put more pressure on clinical capacity.
Patients often endure years of uncertainty before receiving a diagnosis that could significantly alter their care. This time-consuming process is becoming increasingly hard to justify.
Genome-first healthcare represents a promising approach to address these challenges. By using whole genome sequencing (WGS) as the first-line test, rather than a last resort, this method offers a more comprehensive view of the patient from the very beginning. This approach can lead to quicker answers, which families have been waiting too long for.
Consider the case of a six-year-old with uncontrolled seizures and global developmental delay. Initial tests, including a brain MRI and EEG at six months and three years, did not provide answers. It was only after WGS at age six that a genetic change causing SCN1A-related seizure disorder was identified. This early diagnosis enabled personalized treatment, reducing long-term costs related to medication and dietary changes.
In this scenario, the main testing costs amounted to about $12,800. However, additional rounds of testing can quickly become expensive, especially when results are uninformative. Had WGS been used earlier, the estimated savings would be around $8,900 in testing costs alone, not including other costs like medications and specialist appointments.
The benefits of genome-first care extend beyond individual patients. It can help healthcare systems optimize resources by streamlining diagnostic processes, delivering more informed medical management, and reducing long-term healthcare costs. WGS can also enhance operational efficiency in healthcare settings, particularly in neonatal and pediatric intensive care units, where rapid sequencing (rWGS) can expedite clinical decisions and shorten hospital stays, leading to significant cost savings and improved patient outcomes.
Recent studies have shown that rWGS, when used as a first-line test, can result in substantial cost reductions in private payer systems, with estimated savings ranging from $5.8 million to $7.8 million in inpatient payments. As healthcare moves towards a more comprehensive approach, organizations that adopt this model are likely to improve patient outcomes, decrease waste, and enhance the overall patient experience.
This shift is crucial as healthcare seeks to address the limitations of traditional diagnostic processes for rare diseases. Kengo Takishima, chairman and chief executive officer of Baylor Genetics, emphasizes the importance of this transition in healthcare diagnostics.
Written by urgent.news from Fast Company's reporting — not their text. Machine-written — may contain errors; check the original before relying on it.
