Rare Diseases Consultation

Closed 25 May 2012

Opened 29 Feb 2012


On 11th November 2008, the European Commission published a Communication and Proposal for a European Council Recommendation on Rare Diseases. The Recommendation, which aims to introduce measures at European level to combat rare diseases, was accepted in 2009.  This consultation document and responses will form the basis of the UK’s Plan on Rare Disease in response to the Recommendation.

Rare diseases can affect anybody at any stage of their life and people being treated for rare diseases need support from a range of professions including general practitioners, diagnostics staff, the specialist nurses and clinicians providing their care, social care and, of course, their friends and family.  This consultation document recognises this and is deliberately broad in order to cover the range of expertise that may be needed.

This document has been developed jointly by the four nations of the UKand sets out a coherent and joined up approach to tackling rare disease.  We recognise the challenges faced by people with a rare disease and we hope that this document will help to address some of the issues highlighted.

For example, we know that more needs to be done to raise the profile of rare diseases.  As advances in science and technology are enabling more children with rare diseases to live into adulthood we need to improve the transition from children’s services to adult services.  The current systems for coding hospital activity and mortality do not serve rare disease well but we are optimistic that the next revision of the International Classification of Disease due in 2015 will help. 

Many rare diseases are of genetic origin and it is vital that we embrace the advances in genetics and genomic medicine and ensure that the NHS is ready to take advantage of these developments.  We need to reduce diagnostic delay and ensure that training for all clinicians enables them to be alert to the possibility of a rare disease in their patients and to be able to direct patients accordingly for diagnostic investigations.

As Ministers of the four UK Health Departments we are committed to improving services for people with rare diseases and hope that through this consultation document and the Plan we can significantly raise their profile, leading to better outcomes for the many patients and their families/carers who are affected.


  • Voluntary groups
  • Community groups
  • Charities
  • Civil society
  • Advocacy or support organisations
  • GPs
  • Nurses
  • Health visitors
  • Clinicians
  • Managers
  • Commissioners
  • Directors of Public Health
  • Pharmacists
  • Doctors
  • Midwives
  • Healthcare scientists
  • Paramedics
  • Dentists
  • Art therapists
  • Dramatherapists
  • Music therapists
  • Chiropodists/ podiatrists
  • Dieticians
  • Occupational therapists
  • Orthotists
  • Orthopists
  • Prosthetists
  • Physiotherapists
  • Diagnostic radiographers
  • Therapeutic radiographers
  • Speech and language therapists
  • Foundation Trusts
  • Regulatory body
  • Academic/ Professional institution
  • Employer representatives
  • Employee representatives
  • Trade union
  • Deaneries
  • Higher Education institutions
  • Local authority
  • Social care provider
  • Directors of Adult Social Care Services
  • Members of the public
  • Patients
  • Carers
  • Service users
  • Retailers
  • Suppliers
  • Information providers
  • Information professionals
  • Informatics professionals


  • Children's health and development
  • Physical health
  • Infectious disease
  • Public health
  • Health protection
  • Health improvement
  • Primary care
  • Health and well-being boards