UK Government Strategy for Rare Diseases

UK Government Strategy for Rare Diseases



The UK government released on November 22nd a document laying out the

Strategy for Rare Diseases

Here are some highlights from the documents, particularly in the aspects that are relevant to the OSEHRA community.




  • Rare  diseases affect 3 million people in the UK (out of 64 Million = 5%)
  • Close to 80% have a genetic origin
  • NHS will map the whole genome of 100,000 patients with rare diseases
  • Promote equity of access for patients
  • Offer a Patient Centered Coordinated approach to treatment
  • Promote the UK as a first choice location for research into rare diseases
  • Empowering those affected by rare diseases
    • Acknowledge the medical experience of patients and their families
    • Engage and support patient organizations
    • Facilitate access to reliable information (for patients and clinicians)
    • The UK is a member of the international consortium that supports Orphanet
  • Discuss and implement Screening and Testing for rare diseases
  • Improving Diagnosis
    • Time and accuracy
    • In 2004, a survey of 8 rare diseases revealed that 25% of patients said there was a gap of between 5 and 30 years between getting their first symptoms and diagnosis.
    • Raise awareness among medical professionals.
  • Coding and Classification
    • The standard system for coding and classification of disease is the World Health Organisation’s International Classification of Diseases (ICD).
    • Since, by its nature, ICD addresses common diseases, it is of extremely limited value for the rare diseases communities.
    • Need to interconnect between
    • ​Improve diagnosis by using Orphanet information
      • ​For example two symptoms that are common individually, but that together indicate a rare disorder
  • Coordination of Care
    • Creation of coordinated primary care plans
    • Telemedicine platforms
    • Standards for exchanging information with local medical centers
  • Involving patients in research
    • The rareness of the disease, turn patients and caregivers into de-facto subject matter experts
    • Including the use of social media platforms
  • Improving the sharing of data and materials across research projects
  • Improving Diagnosis
    • ​There are 3,200 rare diseases for which the causative gene is known
    • More affordable genetic through Next Generation sequencing
    • The UK Government approved to us up to 100 Million pounds to whole genome sequencing for NHS patients, to generate 100,000 whole sequences
    • Sophisticated bioinformatics and clinical evaluations will be needed
    • Improve treatment by linking pharmaceutical research to genetic information


  • Empowering those affected by rare diseases
    • Improve access for patients to their personal data
    • Support patients to register on databases, when available
  • Diagnosis and early intervention
    • Support the availability of computerised prompts to help GPs diagnose a rare disease
    • Work with colleagues in Europe on the development of the European Orphanet coding system and considering the adoption of Orphanet coding and nomenclature
    • Standardise data collection, building upon existing NHS data standards, and develop standards where they do not exist
    • Explore options to improve the link between existing patient data and electronic health records
    • Assess the potential for rare disease databases where they do not exist
    • Support international links to UK databases
  • Research
    • ​Support the introduction of NGS into mainstream NHS diagnostic pathways, underpinned by appropriate clinical bioinformatics, including clinical bioinformatics hubs supported by high performance computing centres, where appropriate
    • Use portals to connect patients and relatives to enhance research participation and, where appropriate, promote self-enrolment to approved research studies with online consenting, self-reporting and use of social media

The full document can be found here (PDF)