The cost of treating rare disease patients, specifically around orphan drugs, has been widely studied. According to a report by the Canadian Government’s Standing Committee on Health, drugs for rare diseases can cost between $500,000 to $4.9 million per person per year. But what about the cost of diagnosis? Patients with rare diseases face unique challenges due to the rarity of their condition. Often patients with rare diseases present similarly to those with common pathologies. The “first responders” for these patients － primary care providers, paediatricians, emergency medicine, and other specialists － may not initially recognize the symptoms as a rare disease. With 7,000 identified rare diseases, it is next to impossible to land on an accurate diagnosis on the first visit.
On average, it will take 4.8 years from the onset of symptoms to an accurate diagnosis. During that time, patients will visit numerous physicians and will receive two to three misdiagnoses before receiving an accurate diagnosis. This arduous diagnostic odyssey carries with it a significant financial burden for both families and the health care system.
Quantifying the cost of diagnosing rare diseases
A study in British Columbia provides some clues into the financial impact of diagnosing rare diseases. Unsurprisingly, direct costs were highest in the first year of a patient’s diagnostic journey, at an average of around $2,900 per patient for testing and specialist consultations. In the following years, the costs per patient accrued at a constant rate with an average cost of approximately $900 per patient annually. With the average time to diagnosis of 4.8 years, the cost of diagnosing a rare disease could reach $6,300 per patient. With 1 in 12 Canadians affected by rare diseases, the financial impact of the diagnostic process on the Canadian health care system is approximately C$19.7 billion over that 4.8 year period.
Clearly, there are substantial financial and emotional burdens of rare diseases on patients and their families. A largely unrecognized issue is the inordinate amount of time it takes to establish a clear diagnosis for patients with rare diseases and the stress that this causes. Patients often consult with a wide range of clinical practitioners over a period of years before receiving the appropriate information about their condition.”
Mike Drummond, Professor of Health Economics, University of York
The 2019 Canadian Impact of Rare Disease Survey found that almost 90 percent of caregivers have experienced financial trouble due to their responsibilities; many miss six or more days of work a month or exit the workforce altogether. The burden on families and caregivers resulting in productivity loss, wage loss, along with associated mental and physical health consequences, compound to create an overall negative effect on the economy.
Alleviating the healthcare burden through the power of AI and the EMR
At Khure Health, we are leveraging the power of AI and ML to aggregate vast amounts of clinical diagnostic information on rare disease states and combine that with a physician’s own case data, stored in their electronic medical record (EMR). Through an intuitive clinical dashboard, an individual patient’s medical history can be matched against a rare disease algorithm. Physicians can also use the dashboard to screen their complex patients against the clinical criteria for a large panel of rare diseases, making it possible to proactively identify high-risk patients, accelerate their time to diagnosis, and initiate the best next steps, whether that is specific lab work or making a referral to an appropriate specialist.
Accelerating the diagnostic odyssey of rare disease patients, and getting them on the right care pathways, will not only improve the quality of life for millions of Canadians but has the potential to free up billions of dollars in our healthcare system – funds that could be redirected to innovative therapies and support for rare disease patients and their families and caregivers.
Add Khure Health’s clinical dashboard for identifying rare disease patients to your practice.
