Accelerating diagnosis and the right care pathways for rare disease patients


Guest post by Paulo Gomes, Co-founder, Khure Health

I have a rare condition which I was diagnosed with in my early 20’s. I would get rare episodes of autoimmune reactions and depending on the intensity, I would pump myself full of steroids and antihistamines to try to deal with it. Sometimes it would help, but most times it didn’t, and I would end up feeling like I had the flu for the next 24-48 hours.

For about nine years, I saw several different general practitioners and allergists while suffering through debilitating flare-ups. Every single time they would only offer me more corticosteroids and antihistamines as the solution.

I may not have had a clinical background, but I knew enough to realize that these defaults to more of the same were just a bandaid. So, I started my own search for solutions: naturopaths, nutritionists, dietitians, elimination diets, food sensitivity tests, and experimented with lots of dubious remedies to find relief.

In 2019, I had a small breakthrough. After working in and learning about rare diseases, and founding Khure Health, I  started working with a specialist that really understood my condition.  Now, I’m being treated differently, seeing improvements, and I’m excited that I may finally be on the right care pathway.

What I have found over the years is that my story is not unique. Patients with rare conditions often get stuck in the primary care system waiting for a diagnosis, bouncing from specialist to specialist and eventually falling through the cracks without the proper care they need. We estimate millions of patients remain undiagnosed, resulting in poor quality life and preventable deaths.

Getting to the root of the problem

Every physician has rare disease patients whether they know it or not. However, diagnosing and managing the care pathways of a rare disease patient is not as cut and dry as it may seem:

  • Complex diagnostic criteria: Most rare diseases have incredibly complicated diagnostic criteria involving the identification of multiple key symptoms, and cross-referencing lab values and current medications.
  • Lack of knowledge in primary care: The sheer volume of rare diseases (approximately 7000 identified) makes it impossible for a primary care physician to know about every disease. Even some rare disease specialists will not have knowledge of every disease with the diversity of diseases adding to the complexity, making it almost inevitable patients will be misdiagnosed.  
  • Overworked and over-burdened physicians: Increasing amounts of administration, paperwork, billing complexity, and bureaucracy, on top of busy practices overflowing with patients, lead to a primary care sector that feels stressed, overworked, and chronically behind. As a result, potential rare disease patients can get stuck in the diagnostic cycle or fall through the cracks.
  • Gaps in technology resources: Despite public sector investments in healthcare platforms and technology, the sector suffers from a lack of consolidation and interoperability. We are missing one integrated system that enables doctors to search based on symptoms and clinical data providing clear diagnostic options and guidance on appropriate care pathways.

Technology: Bridging the gap in the diagnosis and treatment of rare diseases

The use of advanced technology in researching rare diseases has accelerated rapidly. As Dr. Jayne Spink, Chair of Rare Disease UK and Chief Executive of Genetic Alliance UK noted, the first human genome to be sequenced using conventional methods took just over a decade and today it’s possible to sequence an entire human genome in a day. “The ability to more rapidly derive and interrogate genetic data is also delivering benefits in terms of developing and delivering targeted treatment.”

However, there has been a massive deficit of effective clinical technology tools to support diagnostic decision-making. There is good news: Advances in artificial intelligence and machine learning are starting to crack the code on accelerating diagnosis and putting rare disease patients on the right care pathways.

At Khure Health, we are leveraging artificial intelligence to consolidate and “memorize” huge quantities of digital rare disease information from centres of excellence and key opinion leaders and combining it with machine learning algorithms to “learn” how to match patient information to disease states. We can then present patients in a physician’s practice who are at high risk of a rare disease and recommend appropriate care pathways, including further specific lab work or identifying the best specialist for a referral.

I am extremely proud and excited about the opportunity ahead of us: to give primary care physicians the technology, confidence, and support they deserve, to understand rare diseases and ensure no patient is left behind. Interested in how Khure Health’s clinical dashboard works?


Khure Health

Khure Health

Empowering physicians to identify and treat patients with rare and specialty diseases.

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