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Primary health care services were deeply stressed in Canada long before the COVID-19 crisis.

Overburdened family doctors have become responsible for an increasing number of patients with a wide range of symptoms, varying family medical histories, and a growing list of medications that can impact treatments.

To add to these responsibilities, physicians must also keep up with the rapid changes in clinical guidelines and the discovery of many new and often rare conditions with a genetic link due to the recent advances in our understanding of the human genome. These rare disease discoveries are incredible and, if innovative precision medicine therapies are available to treat them, can be lifesaving for affected patients.

While Health Canada defines a rare disease as a disorder affecting fewer than five in 10,000 people, there are more than 7,000 rare diseases, and more being discovered every year, according to the Canadian Organization for Rare Disorders (CORD). One in 12 Canadians has a rare disorder, CORD says, which means the lives of approximately three million Canadians and their families are severely impacted by these conditions.

Rare diseases are chronic conditions and can be both degenerative and life-threatening. They are also often misdiagnosed since understanding and expertise around them can be limited.

“Rare diseases are just that, rare, but when the more than 7,000 are taken together, every physician has many rare disease patients, whether they know it or not,” says Don Watts, president of Khure Health, a Toronto-based artificial intelligence (AI) health technology company. “Yet, it is impossible for physicians to know all the rare diseases, let alone keep up with the pace of new discoveries and clinical guideline changes. This is where technology can help.”

Rare conditions are very difficult to diagnose as they have complex symptoms often involving multiple systems in the body. They can also mimic other more common conditions and can therefore often be misdiagnosed or go undiagnosed. As a result, these patients are bounced around the health system, sometimes for years, seeking answers and continuing to suffer. If a patient is fortunate enough to eventually get a proper diagnosis, by then, sadly, the disease has often progressed, and it may be too late.

“The heartbreaking thing is that 50 per cent of rare disease patients are children,” Mr. Watts says, adding that three-in-10 children with a rare disease don’t live to see their fifth birthday. “It really is a race against time. Earlier diagnosis can lead to a better prognosis, longer life expectancy and reduced suffering of patients and their families.”

From a health system perspective, this diagnostic odyssey can also cause an incredible amount of inefficiency and costs. Patients with rare disorders wait on average approximately five years and attend seven or more specialist visits to get a proper diagnosis, adding to waitlists with specialists. Given their disease continues to progress, these patients may end up in hospital, adding further unnecessary costs than if an earlier diagnosis was possible.

“One family doctor can care for anywhere between 1,500 to 2,500 patients,” says Nadia Alam, an Ontario family doctor, lecturer at the University of Toronto and past president of the Ontario Medical Association.

“Finding those patients with rare diseases is tough,” adds Dr. Alam, “especially when the symptoms of rare diseases evolve over time and often mimic more common illnesses.”

She says decision-support tools like Khure Health don’t replace a clinical diagnosis, “but they do make it more straightforward. A faster diagnosis means the world to patients and their families. It means the world to me because, finally, the pieces fit together and make sense.”

Khure Health’s mission is to leverage AI to help physicians rapidly identify patients at risk of rare disease. This unique made-in-Canada platform marries international research and physician expertise with deep analytics, natural language processing and machine learning to help doctors understand their complex patients and make better decisions. The result is a diagnosis accelerated from an average of five years to a few minutes.

“We have doctors asking, ‘Where was this 20 years ago?’” Mr. Watts says. “On a regular basis we hear, ‘I think this may have saved someone’s life.’”

Khure was recently acquired by MCI Onehealth Technologies Inc. (DRDR-T), one of Canada’s fastest-growing virtual health care providers. The $13.5-million acquisition was a pivotal moment for both companies, allowing for MCI’s expansive clinical data to be integrated into Khure’s platform, producing and accelerating results beyond what either company could accomplish individually.

“The opportunity to improve patient outcomes, accelerate scientific discovery and create the most advanced precision health network for patient care is huge when working with such a large primary care network as MCI,” Mr. Watts says. “We’ll also have opportunities to use our technology to accelerate patient recruitment for clinical studies, to gather real-world evidence that can advance science and advance our technology. We’re building a phenomenal health technology company on a mission to positively disrupt healthcare.”

MCI plans to continue to broaden its business beyond brick-and-mortar primary-care clinics and virtual care into precision medicine. Also known as personalized medicine, precision medicine is a combination of genomics and big data analytics that helps physicians find the best treatments for individual patients.

Precision medicine is also behind MCI’s brightOS analytics platform, which uses AI to identify subtle trends in how a particular patient’s disease is progressing.

While Khure and the brightOS platform are key elements in MCI’s reimagining of the future of primary care, MCI is also advancing its personalized medicine footprint with the recently announced investment in Ariel Precision Medicine Inc. The U.S.-based company’s AI platform uses genetic and clinical data to help doctors find and treat rare diseases.

MCI chief executive officer Alexander Dobranowski says the investment will help the company expand its precision medicine and technology platform for clinical and commercial projects with pharmaceutical, medical device and life sciences companies.

“[The addition of both Khure and Ariel to MCI] will create real benefit for our patients by speeding up time to diagnosis and bringing in more accurate and targeted therapy,” Dr. Dobranowski says.

Advertising feature produced by Globe Content Studio with MCI. The Globe’s editorial department was not involved.

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