Latest news from the Welsh Rare Disease Implementation Group

On Tuesday 10 January 2017, the Welsh Rare Disease Implementation Group met to discuss progress in implementing the UK Strategy for Rare Diseases in Wales. The Welsh Rare Disease Implementation Group is the body responsible for oversight of the delivery of commitments within the Welsh Rare Diseases Implementation Plan, which was launched in February 2015.

The group is made up of representatives from across the NHS in Wales’s specialised services and genetics services, the research community, patient groups as well as individual patients. The group is chaired by Dr Graham Shortland, a paediatrician who specialises in metabolic conditions and is also Medical Director of Cardiff and Vale University Health Board, the main hub for genetics services in Wales.

The Implementation Group meets numerous times a year to report on progress from across Local Health Boards and other organisations with responsibility for delivering the plan’s commitments. At the meeting on 10 January, the group discussed priorities for Local Health Boards (LHBs) to focus on for 2017/18 and ways in which collaboration can support the delivery of commitments across organisations and sectors.

Each year LHBs must produce Integrated Medium Term Plans (IMTPs). This involves a process to review and plan their future strategy, key priorities and delivery actions. The plans are submitted to the Welsh Government to ensure that they are meeting their obligations in relation to the key Delivery Plans developed by Welsh Government (the Rare Diseases Implementation Plan is one of these). At present, these IMTPs are being collected together by planners in each area. They must reflect the priorities set out by the group in meeting their obligations to deliver commitments.

Priorities for 2017/2018 include:

  • Identifying the support pathway for patients with whose diagnosis is unknown (The ‘Diagnostic Odyssey’);
  • Ensuring better use of best practice and evidence in primary and secondary care and improving pathways for accessing specialist services;
  • Undertaking significant event analysis following delayed diagnosis of a rare disease and shared evidence learning;
  • Ensuring feedback from patients is used to enhance rare disease pathways within health boards.

The group will publish a report that highlights progress in implementing the commitments. This should be available in at our Rare Disease Day reception at the Senedd in Cardiff on Tuesday 14 February, from 6-8pm. Dr Graham Shortland, Chair of the Implementation Group will also be providing a brief update on progress as part of the speaker line up. Tickets are still available if you are interested in joining us for the event:

A review of the current Implementation Plan will be taking place in light of progress that has been made to date – work is due to begin on this shortly. The group will aim to consult on the updated plan in spring, with publication expected by the end of summer.

​For more information, you can contact the Genetic Alliance UK/Rare Disease UK Policy & Engagement Manager (Wales), Emma Hughes – [email protected]

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