How Can Technology Revolutionise the Diagnostic Odyssey?

Diagnosing rare diseases is rarely done in clinic. Such a complex task requires genome-sequencing and the expertise of geneticists like Dr McKee of Belfast Health and Social Care Trust (BHSCT). In his work as a consultant, Dr McKee works with children and adults with often vanishingly rare conditions. Recent technological advancements now mean it’s possible to sequence the entire genome at one time, but actually implementing this has been a challenging process.

BHSCT is soon to implement a new EHR system, but Dr McKee is wary of what this might mean for those working in smaller specialties. These systems are often centrally commissioned and therefore geared towards the needs of larger specialties. For smaller specialties, this is where the need for more specialist systems arises:

‘We’ve got a lot of data in our ecosystem but need smart ways of connecting with and using that data, and querying it in a clinically sensible way. We needed to create a system that would allow us to query the genome and work with it in a meaningful clinical way.

This is where Cambio came in; Cambio was able to assemble the various system elements we were looking for, and then design a model that we could then run with. This will be an open EHR-based clinical data repository offering clinical decision support.’

Dr McKee rightly notes that the true key to the addition of any new system is integrating it with the current one. The addition of Cambio’s system provides an opportunity to see how open standards on one side can work with a famously closed system on the other.

The Diagnostic Odyssey

Dr McKee’s goal is to support rare disease patients on their ‘diagnostic odyssey’, a phrase coined in meetings with fellow geneticists that sums up the journey of a rare disease patient beautifully.

When children – rare disease sufferers often set out on their diagnostic odyssey as children – first present with symptoms they are assessed by a myriad of different people and teams. While working towards a diagnosis they face challenges from every side with constant pitfalls. This world of differing opinions and potentially differing information is incredibly difficult to navigate.

Eventually, patients reach the stage where they receive a diagnosis, but the journey is far from over; they reach the oasis and realise it’s just a big stretch of desert out ahead. This is where supporting patients to understand and manage their own health is paramount.

‘The educated and knowledgeable and interactive patient is a very, very powerful paradigm for getting things moving. If we can help the family to understand and manage these conditions, then the likelihood is that the outcomes that they get are going to be better.’

Knowing what the condition is provides patients and families with a point of psychological reference; they can meet up with other families and share experiences which places them in a much better position. But at the same time, they’re still in terra incognita.

The unifying potential of data systems

Data systems have vast potential for connecting the historically fragmented health system. Dr McKee would like to see future systems breaking away from this siloed architecture and reach a stage where the patient’s clinical information is held in a unified layer that is separate from the individual clinical applications on top of it.

‘We need our patient data in a repository, or a series of federated repositories, that all talk to each other and are accessible through really nice user interfaces – because that’s a thing we’re often missing in healthcare: nice interfaces.’

User-friendly interfaces have benefits far beyond the visual aspects, they also impact patient flow. If a system is easy to use it can accelerate everything from booking appointments to obtaining test results.

Unfortunately, procuring in the NHS is often an archaic process where decisions are made by people who will never use these systems on the frontline. It is all too easy to stick to tried and true methods that may have become outdated.

‘I keep telling people “you can’t 1999 your way out of a 2022 problem”. People seem to think they can because that’s the timescale and environment that a lot of us trained in and that’s what we’re familiar with. We just inherited this notion that the current method is the gold standard, but it’s not, and we can do better.’

New technologies can improve on existing methods and systems that may well have been the gold standard of the past but now represent an antiquated methodology. Dr McKee firmly believes that the technology solutions that will improve healthcare are not the futuristic diagnostic AIs we used to hypothesise about. Instead, the real drivers of improvement will be platforms that improve communication, whether that’s within a hospital or between healthcare providers and patients.

Patient flow during Covid-19

The pandemic has been tough for patients with rare diseases and their families because a lot of their usual support groups and activities have been curtailed. Those who are clinically vulnerable have been isolated for many months and need to remain cautious due to the end of restrictions. Remote solutions have helped support these people and simultaneously facilitated better infection control in the wider population.

Improved communication platforms have been a surprising benefit of the pandemic. Remote consultations, for example, are more accessible for patients who may not be able to travel or are currently unwell. Dr McKee embraced Zoom and Teams quickly and has encouraged his colleagues to do the same; many of them favour phone calls but he argues much more can be gleaned from conversations where you can see a patient’s facial expressions and body language.

The pandemic has accelerated the shift towards a system that doesn’t centre around in-person visits to a central location. For example, phlebotomy hubs across Northern Ireland have meant that patients don’t even need to come in for blood tests – they can simply drive in, have blood taken, and drive away. Patients don’t need to miss school or work and whole families can easily join video calls instead of relaying information.

‘The pandemic has given us a licence to get cracking on changes that would previously have run into all sorts of roadblocks’, commented Dr McKee, ‘people have truly been thinking outside the box to some fantastic results.’

During the first few months of the pandemic, Dr McKee’s department’s waiting time rose to nearly 60 weeks for new patients. Over the course of the pandemic, they reduced this to 10 weeks – in fact, it feels like they ‘hardly have a waiting list anymore.’ This catchup was achieved through utilising the Northern Ireland Electronic Care Records system to contact and re-triage patients on the waiting list and treat those who could be treated outside of central locations.

The GenOCEANIC module (Genomics Open Core Engine for Accelerating Northern Ireland Care) created by Cambio for Dr McKee’s team has been an integral part of clinical decision support, helping streamline the triage process and structure genomic test requests. This module has allowed the team to connect up the previously separate aspects of their system for more efficient delivery of care.

Looking to the future

The changes made during the pandemic will shape the future of care delivery and have proven what is possible when old ways of working are truly evaluated for their efficiency and adjusted to better suit the needs of clinicians and patients. Change is certainly afoot.

‘What we’re doing now is building the launchpad for the next generation of care. We’re not going to improve things with different specialised launch pads all over the place, we need one or two big launch pads that can launch every kind of rocket. We need a standardised and unified system.’

Improving flow is so often about communication and making sure that everybody involved is comfortable, on the same page, and on the right track. Transforming the health service absolutely depends on communication.