Strategy for Rare Diseases announced in England and Belgium releases their National Rare Disease Plan
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.
The UK Strategy for Rare Diseases contained a total of 51 commitments which all four countries have agreed to achieve by 2020. This is the first strategy of its kind, aiming to help build an understanding of rare diseases and boost research in this important area of healthcare.
Key elements of the strategy include:
• Personal care plans for patients, bringing together health and care services, with more support for patients and their families;
• Support for specialist clinical centres offering better care and support;
• Better education and training for health professionals to help ensure earlier diagnosis and access to treatment;
• Promotion of the UK as a world leader in research and development in this field.
The statement confirms increased representation of patients on the Clinical Reference Groups for specialised services, as well as the Rare Disease Advisory Group, where their views will be accounted to “improve and build upon patient involvement in rare disease service provision”. The statement also affirms the commitment of NHS England to providing education and training for health professionals so that they are well equipped to provide faster and accurate diagnosis as well as access to specialised services to patients. This includes “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”
Additionally, Public Health England (PHE), who are building a national rare disease register with NHS England, have emphasised “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”.
England, Scotland, Wales and Northern Ireland released their plans for implementation of the UK rare diseases strategy by 28 February 2014 and held receptions in partnership with Rare Disease UK. A draft form of the Welsh Implementation Plan for Rare Diseases is currently open for consultation.
Read the Rare Disease Statement of Intent
Belgium, especially Orphanet Belgium, has been actively engaged in creating a Rare Disease Plan for Belgian patients. The plan was made public by the Belgian Minister of Health on the 6th of February 2014. The Belgian Plan for Rare Diseases consists of 20 actions, grouped into four domains, forming a comprehensive framework for managing care plan for patients affected by a rare disease, which include:
- Improved access to diagnostics and information to the patient
- Optimisation of care
- Knowledge and information
- Governance and Sustainability Plan
These actions were developed and selected based on their ability to be implemented as well as maintain a concrete impact on patient care in the field. For the implementation purposes, a total budget of € 15 million is allocated to each action. The plan is patient centric with direct implications for the diagnosis and care for the patient. The plan also includes collection as well as dissemination of knowledge. Since a high amount of quality research ( basic, translational, clinical, sociological ... ) is already being conducted within Belgium and there is a pause to see if international data can be joined together for a common framework, the current plan has no concrete actions recognised for research. Finally, this plan is not perceived as the end for advancing help for rare disease patients. To highlight this, a domain within the plan also outlines the creation of a dedicated team for continuous evaluation and monitoring of the implementation of the various actions. In addition, a separate working group within the Chronic observatory disease has also been established to monitor continuously 'unmet medical needs '
Read the Belgian plan in Dutch
Read the Belgian plan in French