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Complete the second consensus survey round

We are now launching the second round of our survey to finalise a set of quality statements based on feedback from the rare disease community. Your input is essential in ensuring these statements truly reflect the needs and priorities of patients, carers, healthcare professionals, policymakers, and patient organisations.

Why take part?

  • Your insights will help shape national standards for rare disease care.
  • We have refined the statements based on the first survey round, and now we need your feedback to ensure they reflect the whole community.
  • You do not need to have participated in the first survey to take part in this one.

Who can participate?

We want to hear from anyone over 18 years old who is affected by rare disease, including:

  • People living with rare conditions
  • Loved ones and carers for someone with a rare disease
  • Healthcare professionals
  • Policymakers
  • Patient organisations
  • Patient advocates

How to take part:

Please follow this link, to complete the survey.

You can find the participant information sheet for more information about the survey here, or in the navigation bar above.

Project Background

How the project started:

  • A group of interested parties from the Rare Diseases Forum came together and became the first IAG of the Forum in 2022.
  • After gathering expressions of support from across the academic and research
    community, we secured a meeting with NICE’s Chief Medical Officer in September
    2023, who agreed that a quality standard for rare disease would be worth pursuing.
  • Following this, in December 2023, a project group and steering group came together, to develop a set of quality statements for rare disease.

Project Steering Group

The project steering group lead and manage the project:

  • Sue Farrington, Co-Chair of RAIRDA and Chief Executive Officer of Scleroderma and Raynaud’s UK (Project Sponsor)
  • Toto Gronlund, Independent Facilitator (Project Chair)
  • Dr Tony Lockett, Visiting Lecturer, King’s College London (Project Information Advisor)
  • Mark Minchin, Associate Director – Quality, National Institute for Health and Care Excellence
  • Steven Hardy, Head of Genomics and Rare Disease, National Disease Registration Service
  • Kim Jeong, Development Manager, Specialised Commissioning, NHS England
  • Claire Garrity, Patient Representative
  • Kimberley Stewart Beasley, Patient Representative
  • Dr Graham Shortland, Consultant Paediatrician, Cardiff (former Chair of the Wales Rare Diseases Implementation Group)
  • Ruth McGowan, Deputy Chair, Scottish Rare Disease Implementation Board and Consultant in Clinical Genetics
  • Dr Peter Lanyon, Consultant Rheumatologist, University of Nottingham
  • Sam Mountney, Policy and External Affairs Manager, Neurological Alliance
  • Professor AJ McKnight, Professor of Molecular Epidemiology and Public Health, Queen’s University Belfast
  • Zoe Morrison, Paediatric Clinical Nurse Specialist, SWAN clinic and Wales Rare Disease Implementation Group

Objectives

Our goals:

We want to establish, through collaboration across the rare disease community, a set of statements which clearly set out what high-quality, sustainable care, treatment and management look like for rare diseases.

What will the results look like?

We will develop a clear set of statements, which will be used by relevant authorities (e.g. the National Institute for Health and Care Excellence – NICE), to drive improvements in rare disease care and treatment. These statements will be developed from the experiences and input of patients, carers, healthcare professionals, policymakers and patient organisations, to ensure that they best reflect the needs of the community, and the most effective solutions to some of the issues this community faces.

How can you support us?

Please keep in touch, and complete the next survey which will be released shortly.

Methodology

Step One

  • Recruitment of the project steering group
  • Initial steering group meeting to agree the scope of the project 
  • Project group puts together a project protocol, which is signed off by the project group, as well as agreeing the remit of the scoping review.

Step Two

  • A scoping review is conducted in accordance with JBI methodology, to map the extent, range and nature of existing literature. 
  • A set of initial potential statements is drawn out of the scoping review results, for the steering group to review.

 

Step Three

  • The steering committee meets to review the output from the scoping review. They will also agree on the approach for consultation and stakeholders to be engaged with.
  • Based on their feedback and further suggestions, the project group will revise the set of statements and develop a draft set of candidate statements. 
  • An initial Delphi survey round will be run within the steering committee, to decide on a final set of candidate statements to be put out to wider consultation.

Step Four

  • The survey will now be put out to consultation across the rare disease community. 
  • An initial round of an adapted Delphi survey, using the draft statements and the options for participants to propose their own statements, will be shared across our networks with the rare disease community.  The feedback from across the rare disease community gathered in this survey will be analysed by the project group, and then reviewed by the steering committee, who will develop a set of statements which will go forward into a second Delphi round within the community. 
  • The second round of Delphi consultation, with the revised set of statements, will be shared across networks within the rare disease community to gather feedback. There will then be a second round of review by the steering group, to agree a set of statements to go forward to a consensus workshop. 
  • The resulting set of statements will be signed off by the steering group.