05 March 2018

Rare Disease: Getting Stuff Done

Or FIDO - "Feck It - Drive ON!" as the inimitable Christine Collins MBE puts it. In our health system (well, both systems, North and South) we are plagued with the nagging sensation that we need to ask for permission before doing things the obviously need done. This malaise is born of bureaucracy, self-importance (we're all guilty), lack of resources, genuine desire not to balls stuff up and all sorts or really good reasons to not actually get things to happen. We're all human, but we're facing a superhuman challenge.

But does the superhuman challenge require superhuman effort, or the guts and determination to say: "Feck it - drive on"? #FIDO is a catchy hashtag, but is it doable? Of course the answer is YES, and the action is in the second part of FIDO. The attitude is in the first part. We need to stop asking permission like shrinking violets, or supplicants begging the mighty priesthood of healthdom for meagre blessings. Feck it - drive on.

Here's the paradox - having a Rare Disease is a common problem. The reason why it's common is that there are over 8000 known rare diseases, and several thousand more that haven't been classified. And many of those 8000 are probably several distinct conditions lumped together. If we are going to develop rational treatment and management strategies we need two things:

  1. DIAGNOSIS - since 80% of rare diseases are genetic, this means molecular diagnostic capacity that can deliver at scale everything from single gene testing to whole genome sequencing (and beyond).
  2. KNOWLEDGE - this includes knowledge of the disease biology (not just the gene test result), and how it actually affects patients. What do patients with this disease want? What matters?
So on 5 March 2018 in the lovely surroundings of Riddel Hall at Queen's University Belfast, the Joint North-South Rare Diseases Meeting brought together patients and professionals, industry and academia, politicians and the public - all under one roof to discuss how we can bring things forward for rare diseases. Because if we can do it for these, we can do it for health all across this island (regardless of Brexit and all that nonsense). I felt the meeting was a great success, and many things were discussed, from specialist clinics for 22q11 Deletion Syndrome to Expert Patient training fellowships to help give patients a stronger voice in designing research and management.

Two themes in particular stood out for me (linked to the points above): we need to ensure our patients have access to the most appropriate diagnostic facilities, and once a diagnosis is established, we need information to flow through the system to put patients and professionals on the same page, and move rapidly to better outcomes. This is part of the transformation we need to see in health services - and the information should be owned by patients.

80% of Rare Diseases are genetic, and even given the current limitations of our knowledge, maybe half of these can be diagnosed by genomic analysis. But genomic analysis on its own can't do the full job. We can only make sense of genomic information in the light of both biological knowledge and phenotype. And in order for phenotype to be useful, we have to capture that raw basic physical medical information in a form that can be analysed alongside the genome.

Add to this the need for patients with rare diseases to be identifiable within the health system so that they get the help they need - effectively a rare disease registry - and you end up with (in my opinion) a fairly unavoidable conclusion: we need an Open Platform for Rare Diseases.

An OPRD needs to fulfil a number of functions:
  1. It should act as a list (register) of patients with rare diseases
  2. It should be a basis for research into those diseases
  3. It should allow clinicians to monitor certain specific outcomes 
  4. It should record healthcare episodes and information
  5. It should produce reports for national audits and commissioning purposes
  6. It should be interoperable with other electronic systems
  7. It should be able to be queried with appropriate governance by outside systems
... and there are many more.

My own view is that we should not reinvent the wheel here. The functionality of the OPRD should drive the design, which fits very closely with the specification of an Open Platform set out by Apperta UK. We are currently designing the first stage of such an Open Platform with the help of colleagues in London and Birmingham; the objective will be to pull data from Trust systems (with consent) to inform the genomic analysis databases in the 100,000 Genomes Project. With the experience gained in this project, we hope to start rolling this out to other areas.

Using the Open Platform (which will eventually tie in to #EncompassNI, whatever architecture we adopt for that) we will be able to ensure that the data belonging to patients with Rare Diseases  can deliver benefit back to them, their families and the wider health system. This will require careful governance and design, but we are up for those challenges too.


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