Data linkage, app development and a rare disease prevalence tool: exploring the England Rare Diseases Action Plan 2024 report

The Department of Health and Social Care has published the main report for the England Rare Diseases Action Plan 2024, with digital, data and technology noted as an underpinning theme to four key priorities: helping patients to get a final diagnosis faster, increasing awareness of rare diseases among professionals, better coordination of care, and improving access to specialist care.

The importance of secure, linked datasets containing standardised, interoperable data is emphasised throughout the report, with DHSC highlighting ongoing work to support NHS research data infrastructure and data-enabled clinical trials. In particular, an update is shared around data for research and development, with three programme objectives set to be achieved by March 2025. These objectives are to make research-ready data “rapidly available” through the NHS Research Secure Data Environment Network; to speed up large-scale clinical trial delivery through NHS DigiTrials; and to establish a model of future generation of value for the NHS.

NHSE is said to be “making progress” against the NHS Genomics Strategy priorities “to enable genomics to be at the forefront of the data and digital revolution”. As part of this, an NHS Genomics Data and Digital Steering Group has been established to oversee development of a framework in this area, which would outline how the steering group would deliver digital and data commitments, including the delivery of a digital test directory, genomic order management, and a unified genomic record.

Looking at some of the key updates in the report with regards to digital and data, DHSC notes that work is underway on a project exploring how disease registries, data linkages and improved data coding could potentially help provide evidence on rare disease outcomes and other metrics.

With regards to increasing awareness of rare diseases among healthcare professionals, the report shares how an “innovative digital education resource” called GeNotes has been developed for healthcare professionals, providing information to support patient management, linking in with NHS Genomic Test Directories, and signposting to other learning opportunities. Spanning genetic and non-genetic rare diseases, over the past year GeNotes has expanded to include seven specialties including fetal and women’s health, neurology, primary care and pharmacogenomics. In the coming year, there are plans to include five further specialties including mental health, dermatology and ephrology.

Additionally, the report shares that GeNotes app is in development, with a pilot project seeking to syndicate GeNotes content into GP systems is to run later this year.

Regarding improving access to specialist care, treatment and drugs, DHSC emphasises that understanding patient data will facilitate access to treatments and care. With NCARDRS (National Congenital Anomaly and Rare Diseases Registration Services) already collecting data on people with rare diseases, including from highly specialised services, the report highlights that discussions are underway with other such services to establish further dataflows.

A rare disease prevalence tool is “under development”, the report continues, which will look to increase transparency and improve understanding of the rare diseases currently included in NCARDRS data. A first iteration is to be published early this year.

DHSC notes that a digital patient self-reporting interface was developed, “but unfortunately taken down shortly after launch due to issues with platform compatibility”. An email-based self-reporting mechanism is in place in the interim, to allow patients to self-report symptoms; 105 patients are said to have self-referred at the time of publication. Over the coming year, there are plans to re-establish a digital self-reporting platform.

On the topic of national and international collaboration around rare disease care, DHSC states that the UK “is committed to building national and international connectivity so that data and expertise can be shared for benefit of people living with rare diseases”, and continues to support the development of the Global Network for Rare Diseases. A “key function” of this network will be a digital platform designed to “enable cross-border virtual advice and consultation”.

The report can be accessed in full here.

In November, we highlighted a study undertaken by The Royal Marsden NHS Foundation Trust and The Institute of Cancer Research, London, which explored the effectiveness of AI in tailoring treatment for some sarcoma patients and to help diagnose subtypes of rare disease.

Last month, we also reported on research focusing on identifying the potential benefits of linking whole genome sequencing data to real-world clinical data, to identify changes in cancer DNA that “may be relevant for an individual patient’s care”.