The Northern Ireland released Implementation Plan for Rare Diseases
After much debate, the Northern Ireland Executive Health Minister, launched “Providing High Quality Care for people affected by Rare Diseases – The Northern Ireland Implementation Plan for Rare Diseases”. The Plan reaffirms Northern Ireland’s commitment to effectively implement the 51 Commitments of UK Strategy for Rare Diseases which will be taken forward during the period 2015-2021. These Commitments are set out under five key themes in the UK Strategy and an additional sixth theme which reflect the opportunity to work with their neighbours in the Republic of Ireland to realise the mutual benefits of cross-border collaboration on rare diseases. It aims to ensure that people living with a rare disease have access to "the best evidence-based care and treatment that health and care services, together with charities, research and industry can provide."
The themes committed to by the Department of Health, Social Services and Public Safety in Northern Ireland (DHSSPS) include:
• Empowering those affected by rare diseases and continuing to work with their patient partners, including those in Northern Ireland the Northern Ireland Rare Disease Partnership (NIRDP) and other patient groups.
• Identifying and preventing rare diseases which includes continuing to work with the UK National Screening Committee to ensure appropriate early diagnosis and establish carrier testing approved by the appropriate commissioning bodies, where the associated molecular tests are evaluated and recommended by UK Genetic Testing Network (UKGTN).
• Providing an accurate and timely diagnosis and early intervention by identifying genetic services as a priority for progress to enable all individuals with genetic conditions to access the tests they need to get a diagnosis.
• Coordination of Care by taking steps to facilitate the creation of a Northern Ireland register of rare diseases.
• Emphasising the role of research which includes the announcement of a £3.3 million investment in the establishment of a Genomics Medicine Centre in Northern Ireland, working with Genomics England, and participating in the 100,000 Genomes Project.
• Collaborating and working with the Republic of Ireland to identify areas in which rare disease patients would benefit from cross border collaboration.
Read the Plan