Great Ormond Street Hospital NHS Foundation Trust is to launch a new partnership with LifeArc, focusing on advancing research into rare diseases in children by connecting data from across the UK.
“Rare disease health data is often fragmented and disconnected due to small numbers living with the conditions, which can hold back research,” GOSH explains. “There is an urgent need for change with more than three million people in the UK living with a rare disease, and approximately 70 per cent of those diseases affecting children. Currently 95 per cent of rare diseases have no approved treatments.”
The KidsRare initiative sets out to bring health data from different hospitals in the UK together, allowing researchers to generate insights and identify trends, and potentially improving the ability to diagnose and treat rare disease.
GOSH chief research information officer Neil Sebire shares that harnessing paediatric specialist data is “pivotal” for progressing rare disease research, adding: “Collaboration is key to securely transform data that is locked in multiple, unconnected locations into insights that accelerate innovation and improve outcomes for children with rare disease.”
The initiative builds on existing work across GOSH’s Data Research, Innovation and Virtual Environments (DRIVE), including the unit’s Digital Research Environment, which exists as a safe space for storing, anonymising, and analysing data for research purposes.
The research environment offers secure access to health data and a range of tools designed for analysis within a controlled environment, with collaborative functionality that supports MDT working across different organisations. It is capable of securely compiling data from multiple systems and organisations, sharing this data safely with clinicians and researchers, and running advanced analytics using Rstudio or Jupyter.
To date, DRIVE reports that teams have set up more than 300 workspaces on the platform, with standard templates developed for data extraction helping to speed up the process.
Wider trend: Health data
NHS Wales has shared that its National Data Resource programme has achieved a milestone, with encounters data from Cardiff and Vale University Health Board linked into the care data repository. This update brings data such as referrals, outpatient appointments, and inpatient admissions together in a structured and standardised way, said to create a more complete picture of patient journeys and support better care coordination. Teams worked with Cardiff and Vale patient management system colleagues to ensure relevant data can be transferred “consistently and correctly” from source systems, using HL7v2 standards and secure processing through integration services to surface in the care data repository.
The Scottish government has shared objectives set out in its Women’s Health Plan for Scotland. A failure to gather data on disease and disease outcomes for women is highlighted as limiting knowledge and impacting health outcomes, with plans to improve women’s health research and data with continued funding through the Women’s Health Research Fund. Data will also be improved by working with health boards to understand and utilise data at a local level, and review data to disaggregate by sex “as a first step toward intersectional data on women’s health”. A minimum dataset for menstrual data on cycle length and bleeding volume will be created and incorporated into EHRs as well as research studies to help ensure it is routinely recorded.
NHS England has shared that 50,000 eligible adults living with bipolar, schizophrenia, psychosis, or major depression in England and Wales have been invited to the “world’s largest” mental health study looking to promote personalised treatment for severe mental illness. The GlobalMinds study, led by mental health data science company Akrivia Health Ltd in partnership with Cardiff University, will last for three years, and will ultimately expand to include participants from other countries. So far, ten NHS mental health trusts are supporting the project.
