Digital health and rare diseases

Contributed by Virve Aljas, Manager, Employee Communications & Engagement, Ontario Medical Association

I have a vested interest in improving digital health systems. The information housed across a number of systems within different institutions can be applied directly to research that could save my life. Full disclosure, I work for the Ontario Medical Association, of which OntarioMD is an affiliate. I’m writing this blog through the lens of a patient with a rare disease, navigating a complex health care system. You’ll also read the perspectives of two physicians who are deeply involved in transforming digital health to inform their research.

I have a rare liver disease called Primary Sclerosing Cholangitis (PSC), which affects roughly 21 in 100,000 men, and 6 in 100,000 women. It progressively inflames and scars bile ducts to the point that the liver ceases to function. No one knows what causes PSC, and there is no cure. If the disease progresses to a certain point, liver transplantation is currently the only solution.

You might not expect me to follow that up by saying that I feel incredibly lucky. I’m fortunate to live in a city where I have access to multiple centres of excellence in gastroenterology, hepatology and therapeutic endoscopy. I can access care by boarding the subway, while some patients I know have to board a flight to see their specialists.

These hospitals have some of the most advanced medical technology available. However, like many patients in Toronto, I’ve made the familiar trek across University Avenue from one specialist to another with an armful of my medical records on paper, because their EHR systems can’t communicate with each other.

Digital Health Information and Research

Another way I’m lucky as a patient is that I’m based in the same city as doctors who are researching ways to cure my specific disease. If they based their work on data from solely their local patient pool, their sampling would be relatively small. You can imagine that patients would want them to have access to as much data as possible to find common trends.

Another layer of complexity is added in this case, when you consider that over 75 percent of PSC patients also have ulcerative colitis. PSC researchers and their peers in gastroenterology are keen to collaborate in order to find out more about this relationship. Unfortunately, good intentions only take us so far.

Like many rare disease groups, the PSC patient community has self-organized to create resources like a voluntary patient registry, online forums, annual patient conferences and fundraising to support research. I’m privileged to use my voice through a forum like this blog, but patients would love to find other ways to help move digital health and research forward.

We enjoy open communication from clinicians like Dr. Gideon Hirshfield and Dr. Aliya Gulamhusein who are leading the charge to find a cure. Their perspectives are below.

Dr. Gideon Hirschfield

MB BChir PhD FRCP (Lon), Director, Autoimmune Liver Disease Programme, Toronto Centre for Liver Disease, Lily and Terry Horner Chair in Autoimmune Liver Disease Research

“Electronic health in Ontario has a long history and some recent positive advances. We now have, albeit a slow and not easy to use, system of getting results about our patients through the ConnectingOntario ClinicalViewer.  However, as academic clinicians, we often find ourselves with a focus on diseases that frequently don’t have very good treatments at present. It is therefore quite discouraging to see barriers to using existing electronic resources for simple observational research.

As an example, PSC is a rare disease, very impactful, and has no present therapy. Our patients live all over Ontario and we use tools like ConnectingOntario for their clinical care to reduce the burden to them, every day. We can see blood results, radiology investigations, etc. However, if we want to cohort and learn more about our patients, we cannot use ConnectingOntario data in that way, as that is classified as using the data for research. To be honest, it is hard for us to explain this to patients who live with an impactful disease with no therapy.

No one is asking for unrestricted academic privileges that discard privacy concerns. But if you had a rare disease, and you knew that simple research to learn more about the nature of the disease is hampered by poor access electronically to existing data already used in your clinical care, you might question whether it was a small win for all to proactively solve the problem. Certainly, as academic clinicians develop solutions to working together clinically and for research, collaboration across institutions is one priority we really want addressed as e-health expands.”

Dr. Aliya Gulamhusein

MD, MPH, Assistant Professor of Medicine, University of Toronto, Clinician Investigator, University Health Network

“Chronic diseases are increasingly complex and patients with rare, multi-system diseases often ultimately seek care in highly specialized centres. Rare diseases like PSC affect multiple organ systems including the bowels, liver and biliary tree, and are often managed by distinct clinicians who specialize in management of these individual systems, with each clinician contributing an important element to patient care. Clearly, however, learning about patients in silos of organ systems without considering the broader picture is misleading and close collaboration to optimize outcomes of patients with PSC is essential.

For academic clinicians who manage rare disease like PSC, which itself has no effective treatment option and progresses to important outcomes, it is our responsibility to work towards discoveries that optimize patient outcomes — but this relies on collaboration. Barriers to collaboration amongst engaged and willing academics are immense and, particularly for junior faculty, can be obstructive and discouraging and can easily lead one to simply lose the drive to persist. Creating a network between gastroenterologists within the same specialty, division, and university who simply work at different hospitals managing the same patient can require approval from up to four ethics boards (SickKids, University Health Network, Mount Sinai Hospital, St. Mike’s) and development of individual data sharing agreements — each of which takes months to process. For rare diseases requiring international collaboration, you can just imagine the administrative burden.

Patient privacy is a priority and must be protected — this is not at question. But for observational minimal risk data, collaboration between engaged academics must be fostered, not obstructed. This is ultimately most important for our patients who we want to learn from, with, and for.”

2 thoughts on “Digital health and rare diseases

  1. Considering the mountain of red tape you describe, here is an out of the box approach.
    Assemble all willing physicians looking after these patients and buy a shared EMR. ASP makes the most sense since you are in multiple centres. Then with the consent of the patients you can add them to the EMR. Use OLIS and HRM to pull in the ongoing data produced in hospitals and private labs. Add your own data as desired.
    Then use the EMR to do your data mining and research. It’s not free, but you could at least get done what you want.

Share your thoughts with us!