Jennifer, 53, could have been diagnosed and treated for hypophosphatasia, or HPP, at age three. The rare, inherited and progressive metabolic disease, with often life-altering and sometimes fatal symptoms, first presented for Jennifer as premature and unusual tooth loss. This early warning was relegated as a Post-It note on her dental chart and no further action was taken. It was not until almost 40 years later, after navigating adulthood with debilitating muscle and joint pain, and extensive self-directed medical research, that Jennifer was properly diagnosed and treated.
Her story is a harsh reality for the three million Canadians living with a rare disease. For them, it takes on average almost four years and consultations with six specialists to get a diagnosis. For some, it takes longer.
This issue is a true “diagnostic odyssey” for rare disease patients who often go through long, arduous journeys filled with misdiagnoses, repetitive testing, unnecessary treatments, uncertainty and distress. The emotional, physical and financial toll on patients and families is devastating.
Often prolonging this already complex process is our hyper-fragmented healthcare data. Canada’s medical records infrastructure is not centralized in a common data repository, resulting in information silos at the provincial and patient level, between primary care, specialists, and hospitals.
Beyond the financial burden and strain on our healthcare system – from repeated doctor and ER visits to numerous referrals – these silos significantly hinder health equity. Rare disease patients, whose conditions often require cross-specialty insights, are impacted the most.
We must therefore improve the time to diagnosis for rare diseases in Canada.
Rapidly changing technology is bringing the integration of artificial intelligence (AI) in healthcare. Not only can AI help make our daily lives simpler, but it has the power to transform our healthcare system.
We must ensure that no patient is left behind in this digital revolution. Innovation-driven health equity is critical to consider and, for rare disease patients, a question becomes central: how can we leverage AI and digital innovation to shorten their diagnostic odyssey?
AI’s ability to process vast disparate data allows it to identify patterns, correlations, and potential diagnoses that human eyes might miss or take significantly longer to uncover. By finding these indistinct patterns and raising suspicions of rare diseases, some of which healthcare professionals may have never encountered, it can identify possible patients, accelerate diagnosis and empower clinicians with unprecedented insights – ensuring patients receiving the right care, sooner.
What’s more encouraging is that this is already happening.
The Children’s Hospital of Eastern Ontario’s ThinkRare project is a prime example. ThinkRare is a first-in-the-world groundbreaking AI search algorithm that identifies children and youth who may have an undiagnosed rare genetic disease, referring them for genetic testing, answering important medical questions sooner, enabling earlier intervention and eventually putting an end to their diagnostic odyssey. It doesn’t just look for a couple diseases, but considers more than 6,500 rare disorders.
Among the diseases this algorithm can screen for is HPP, a reminder that Jennifer’s 40-year journey is the reality we are working to transform. A reminder that today, with innovations like ThinkRare, we can change that narrative. To transform care and advance health equity for rare disease patients.
Knowing AI’s immense potential, we must act decisively. First, we must prioritize investment in policies and infrastructure that foster innovation, incentivizing tech-health collaboration, building robust data platforms and supporting the training and upskilling of healthcare professionals. Second, establishing secure and patient-centric data sharing mechanisms is crucial, especially for rare, making it easier for patients to opt-in. We can’t forget that any technology must be leveraged ethically first, and responsible processes must be set to ensure data privacy and security.
Policymakers, healthcare stakeholders and innovators alike; we all must ensure no patient population is left behind in benefiting from novel technologies and the digital revolution.
Jennifer’s story shouldn’t be the norm. Instead, we should look into a future where no one waits. A future where a child, exhibiting the earliest signs of a rare condition, receives an accurate diagnosis not in decades – but in months or even weeks. Allowing timely intervention and a life unburdened by the shadow of the diagnostic odyssey.
This is the future we must build, together.
Karen Heim, General Manager, Alexion Canada, AstraZeneca’s Rare Disease Company
