My name is Shane McKee. I’m a consultant in genetic and genomic medicine in Belfast HSC Trust – the largest trust in Northern Ireland. I’m also the deputy chief clinical information officer for Belfast Trust and I’m the clinical director of our regional molecular diagnostics service and microbiology.
In 2015, Dr McKee and his team participated in the UK 100,000 Genomes project, recruiting patients with very rare genetic disorders who needed genomic analysis and DNA sequencing. Based on this work, the team developed GEN-OCEANIC, an openEHR-based project that stands for Genomics, Open Core Enabling Architecture for Northern Ireland Care.
Dr McKee is currently involved in implementing the EPIC EHR system throughout Northern Ireland which will cover roughly 80% of the project’s needs.
Why choose Epic?
“We felt that implementing a big monolithic EHR would get us quickly to our destination, but what to do with the remaining 20%? That’s where openEHR comes in. Part of the plan then was to develop something that would not compete with the Epic system, but would do a number of different things.”
In simple terms, GEN-OCEANIC is a genomics-based system that aims to connect a patient’s phenotype (clinical condition) data with their genomic data.
How easy was it to link patient phenotype data to their genome analysis?
“Your genome is 3.3 billion letters of DNA long. So to visualise that, here’s an A4 sheet of paper and let’s say you had size 12 font and you type it all out on that paper. You put one sheet down there for the first bit and the same sheet for the second bit. It’ll be 134 metres tall. That’s about the height of the Eiffel Tower.”
Dr. McKee explains that their participation in the UK 100,000 Genomes project was instrumental in understanding the significance of linking phenotype data to genome analysis. They wanted the flexibility to use this framework for other purposes, such as pharmacogenomics and pathogen genetics. To facilitate this, they used the Human Phenotype Ontology, a dataset that allowed them to specify phenotypes in a computable form. They also incorporated a clinical decision support (CDS) system provided by the openEHR industry partners at Cambio Healthcare to sort eligibility criteria for gene tests.
This is where Dr. Rong Chen came into the picture.
Rong, how did you get involved with openEHR?
“I got quite involved with openEHR early on even before I joined Cambio. Part of that was my sort of research interest – I was studying a PhD on health informatics, trying to use standards to represent knowledge clinical guidelines. But for almost the last ten years now, my work at Cambio has been mainly about teaching support systems. And then there’s the other side of the coin, that’s the knowledge representation and how to make this knowledge conversion from narratives, PDF, what do you have, all the documents into a computerised digitised form.”
Rong is the CEO of Cambio CDS and leads a team dedicated to the use of the Guideline Definition Language (GDL) in clinical decision support systems. They face challenges in the development and implementation of such systems and emphasise the need for interoperability and portability.
GDL was created in 2013 to enable the development of highly portable computerised Clinical Decision Support (CDS) logic and modules by leveraging semantically interoperable EHR standards. In the context of medical informatics, a Guideline Definition Language might be used to encode clinical guidelines, treatment protocols, or best practices for medical decision-making. It is the language of choice for the GDL Editor software, developed by Cambio, and uses openEHR archetypes to model clinical practice guidelines for computerised CDS.
Why are clinical decision support (CDS) standards so important?
“We’re losing in the healthcare industry due to the ageing population and the ever-evolving medical knowledge. Human minds have limitations in processing vast amounts of information effectively.”
Systematic approaches to decision-making are necessary to ensure high-quality, efficient, and error-free healthcare. Rong sees the need for a portable solution that can be shared across different markets and jurisdictions, making it the perfect tool for the GEN-OCEANIC project, which aims to improve patient care and integrate genomic data into electronic health records. The team found that well-phenotyped patients had a higher probability of diagnosis through genomic analysis, and they are working on using openEHR for data normalisation and clinical data archiving. This will allow them to pull in data from various sources and make it useful for both clinicians and patients, and the Cambio GDL system provides these benefits.
Rong sees GDL as an extension of openEHR archetypes, designed to support clinical decision-making. He is optimistic about the future of CDS and its potential benefits for the healthcare industry. While overcoming the IT skepticism of senior clinicians can be challenging, he believes that the newer generation of clinicians embraces the idea of user-friendly and reliable tools.
“You want to provide this guardrail of the choices and make the system both flexible but also robust; make it very hard for a clinician to make errors.”
Rong explains the role of the GDL in expressing rules for decision-making, as well as its practical application. He also addresses the need to make GDL tools more accessible, especially for medical and informatics students. Ongoing efforts are required to provide training and resources to students, as well as the establishment of an open-source repository to facilitate knowledge-sharing and collaborative development.
How do you think we can address the steep learning curve for new openEHR users in order to grasp its potential and make it a reality?
“Think of it as a startup. You want to do something quick, in twelve months, with the runway time. If you can’t grab something in a week, you give up, you move away, you just grab whatever you have and make it happen. So we need to make our tools more accessible, so they can just go out and buy this package and implement it.”
Shane – how does this align with your perspective, and what approach do you think needs to be adopted in the future?
“You need to have a dedicated team whose job is to do both the openEHR work and maintain all those interfaces and servers, but also then the informatics people that are going to go out and scout out for other use cases and liaise with the other programs to make sure that we’ve got those those data flows working properly. So it needs to be approached from an architecture point of view in that the architecture itself needs to be maintained. So we need the designers in there. We need the people who are actually doing that and treating it effectively.”
Dr. McKee acknowledges the challenges of implementing multiple IT projects simultaneously. The GEN-OCEANIC project is under continuous development, but he believes that integrating genomics into the healthcare system is essential and wants to make it a normal part of medicine. He sees openEHR as a crucial component in achieving this goal as it provides the necessary data integration and helps improve patient outcomes.