How We’re Helping Clinical Teams Progress Rare Disease Research and Diagnostics

Macadamian Technologies | July 31, 2020 | 6 Min Read

We've developed a digital platform that allows clinicians across the world to effectively collaborate and exchange information on rare diseases in order to advance research and inform diagnoses.

Although research on rare diseases has come a long way over the years, effective and efficient collaboration between specialists is still a challenge faced by many clinical teams today. As a company that is constantly exploring new ways technology can support improved care delivery, we were thrilled to partner with a global rare disease research consortium to develop a digital tool that enhances how clinicians research and collaborate today.

The Challenges of Rare Disease Research and Diagnostics

One of the most significant challenges across rare disease research and diagnostics today is that research and patient case data are:

  1. Limited in comparison to more common diseases and;
  2. Often siloed.

This makes it difficult for specialists who are studying and treating the same disease to collaborate and share findings that could help them make more accurate diagnoses and assess whether therapeutic trials are effective.

As a result of data siloing, commonplace practice for sharing research information, including patient imaging, is via external drives, like USB keys, that are either exchanged in person or delivered via mail. Not only does this practice put patient data at risk, but it’s also a slow means of collaboration. And when it comes to diseases that can quickly deteriorate patient health, time is precious.

Delays in developing a diagnosis can be costly for patients as their disease progresses. Patients with an unclear diagnosis can experience a tiring chain of referrals; they’re tested and referred to one specialist, then tested some more and sent to a different specialist. This process can repeat several times before any substantial progress is made in arriving at a diagnosis. A patient with a rare disease will see an average of 7.3 physicians and it takes about 4.8 years from symptom onset to receive an accurate diagnosis, according to a survey of patients, family members, and healthcare professionals. Not only can this journey be draining for patients and their families, but all the while, patients’ symptoms may be worsening without any clear direction on how to be treated or manage their own health in the interim. In addition, expenses related to testing may not be covered for all families (depending on the tests, insurance coverage, etc.), adding, yet, another burden for those seeking treatment.

helping clinical teams progress rare disease research and diagnostics: patient diagnosis experience

All this to say, the more efficiently and effectively clinicians and researchers are able to collaborate to diagnose patients with rare diseases, the better off patients and their caregivers are from a health perspective (physically and mentally) and from a financial perspective.

Thankfully, technology has great potential to make our healthcare systems more efficient and improve our ability to deliver quality care.

Clinicians from The Ottawa Hospital’s Neuromuscular Clinical Research Centre and the MYO-MRI consortium recognized the potential for digital technologies to transform how they work today. And so, combining their clinical expertise with our expertise in healthcare software development, they partnered with us to create a tool that would address some of the urgent challenges in how they collaborate.

MYO-SHARE: A Digital Collaboration Tool for Rare Neuromuscular Disease Research

The Problem

Neuromuscular diseases (NMD) form a large group of individually rare diseases that are present in all populations and affect people of all ages. Many of them result in chronic disability, posing a significant healthcare burden for society. Diagnosis and therapy development for NMD has rapidly expanded in recent years and there’s an urgent need to develop objective, non-invasive outcome measures to monitor disease progression and treatment effect.

The use of novel magnetic resonance imaging and spectroscopy techniques (MRI and MRS) applied to neuromuscular diseases is showing increasing promise in this regard. But, as we touched on earlier, progress has been hindered by the rarity of the conditions and lack of options for pooling data from different groups. The typical approach to sharing MRI data among clinicians to collaborate on a diagnosis was via the exchange of files on USB keys at international conferences or by couriering MRI images on CDs, neither of which are secure or efficient.

The Solution: A Digital Clinical Collaboration Tool

Leveraging Macadamian’s HealthConnect™ platform, the MYO-MRI “MYO-SHARE” portal was developed by our team in partnership with The Ottawa Hospital and MYO-MRI consortium in mere months to provide a streamlined approach to diagnose patients with rare neuromuscular disease. The MYO-SHARE platform assembles de-identified muscle MRIs, clinical and genetic information and pathology images to improve diagnosis and provide objective imaging biomarkers of disease progression and response to treatment.

With clinicians and scientists working together across 20 countries, MYO-SHARE is helping clinicians define patterns of involvement for specific neuromuscular diseases, share new diagnostic imaging protocols and establish guidelines for an online registry to create an imaging atlas for neuromuscular disease.

By leveraging HealthConnect’s browser-based DICOM viewer, automated anonymization engine and granular sharing mechanism, MYO-SHARE has made collaborating on a medical diagnosis as easy as collaborating on a Microsoft Office Document – and just as secure.

helping clinical teams progress rare disease research and diagnostics: global rare disease research collaboration

Outcomes of the MYO-SHARE Platform

The cloud-native MYO-SHARE portal advances clinical decision support in the following ways:

  1. Efficient Image Sharing: Images can be uploaded and shared with clinicians within minutes of being captured at the local hospital versus days and weeks previously.
  2. Ensured Patient Data Security: All images are automatically anonymized at the time of upload to ensure that no identifiable patient information is stored or available on the platform versus non-anonymized images shared on insecure storage media that could be exposed to loss or theft.
  3. Immediate In-Platform Collaboration: Muscle atrophy scores are captured and recorded by a collaborator to support further research activities relating to automated muscle scoring where traditional collaboration occurred through the exchange of e-mailed notes.
  4. Collaboration at Scale: The platform is able to support the onboarding of new specialists and researchers, maximizing the crowd-sourcing of global intelligence. Users are able to assign different specialists to review images and provide diagnostic input and feedback.
  5. More Informed Diagnoses: MYO-SHARE allows clinical teams to tap into a global ecosystem of intelligence and data to support diagnosis development. A universal scoring system is used to evaluate images so that they can be compared regardless of location-based differences in radiology protocols.

A Working Platform Prototype Launched in Under Two Months

For The Ottawa Hospital and MYO-MRI Consortium, demonstrating the value of the MYO-SHARE platform in its early stages of development was crucial in securing the additional funding and consortium buy-in needed to continue development and improve the platform with new features.

By Leveraging our Platform as a Service (PaaS), Macadamian HealthConnect™, our team was able to provide core platform functionality in the form of a working prototype in just under two months to start trialing with fellow researchers around the world. Macadamian HealthConnect™ provides the core components for digital health solutions so that data privacy, compliance and interoperability requirements are met from the start. This allows us to focus more time working with clients to develop unique product features that add end-user functionality.

We’re continuing the development of the platform with the Ottawa Hospital and MYO-MRI consortium to improve and enhance its utility and we’re excited to explore how a tool like MYO-SHARE can be used to assist clinical teams studying other rare diseases.

Start Effectively Collaborating With Your Clinical Peers

At Macadamian, we’re passionate about improving healthcare through technology. We also recognize that this isn’t something we can do alone. The solutions we develop are co-created with clinical domain experts and the resulting products are better because of it.

If your team is facing some of the clinical research and collaboration challenges we touched upon today and are open to leveraging digital technologies to address them, let’s start a conversation to see where we might be able to help you.

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