NHS England outlines plans for rare diseases

3 March 2014

Ahead of Rare Disease Day 2014 last week, NHS England released details of implementation plans for the first UK strategy for rare diseases, which was published by the Department of Health in 2013.
In a Statement of Intent, NHS England sets out how it will deliver commitments from the strategy and develop services for rare diseases within the new framework for specialised services.
James Palmer, Clinical Director for Specialised Services at NHS England observed that the organisation was, as sole commissioner of the vast majority of services involved in the treatment of rare disease, “in an excellent position to ensure that these services are of high quality, and are delivered in an equitable way across England”.
The new document does not provide much detail, but includes confirmation that patients will be represented on all the Clinical Reference Groups that are developing specialised services, as well as on the Rare Disease Advisory Group, and that their views will be sought on how to ‘improve and build upon patient involvement in rare disease service provision’.
Public Health England (PHE) are reported to be developing a national rare disease register, with NHS England to helping ensure data provision and transfer, whilst the UK National Screening Committee is responsible for ensuring that the scope for improved and earlier diagnosis of rare diseases is taken into consideration for all potential new or expanded screening programmes. PHE chose to highlight the success of the recently expanded NHS Newborn Blood Spot Screening programme in diagnosing the rare metabolic disorder MCADD; potential expansion of the programme to include more rare disorders is being piloted.
With respect to improved education and training for health professionals to improve patient diagnosis and access to specialised services, NHS England will support piloting and evaluation of ‘expert systems’ to support recognition and diagnosis of rare diseases, such as a computerised prompt service to help GPs to help GPs recognise potential rare disease symptoms.

All of the devolved nations (England, Scotland, Wales and Northern Ireland) were due to release their plans for implementation of the UK rare diseases strategy by 28 February 2014 and hold receptions in partnership with Rare Disease UK. A draft form of the Welsh Implementation Plan for Rare Diseases is currently open for consultation. 

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