The National Rare Disease Plan was launched in 2014 and a report on the implementation of the Plan's recommendations was published in 2017. Both are publicly available on the Department of Health website.
We are now at the point where the operationalisation of the Rare Disease Plan is firmly embedded in the work of the HSE Clinical Programme for Rare Diseases and the HSE Rare Disease Office. As part of the oversight of the implementation of the National Rare Disease Plan my Department has a quarterly engagement with the Rare Disease Taskforce, comprising of Rare Diseases Ireland (RDI), Medical Research Charities Group (MRCG), The Irish Platform for Patient Organisations, Science and Industry (IPPOSI) and Cystic Fibrosis Ireland.
Work this year to date has identified the following key priority areas for the next phase of implementation; raising awareness; expansion of our participation in European Reference Networks; enhancing research and access to medicines and services.
This is a significant body of work that must also be aligned with the objectives of our healthcare system as set out in the SláinteCare Implementation Plan. Irrespective of disease or condition all patients must have access to the same level of preventative, early detection, diagnostic and treatment services. An important next step in this regard will be the publication of a model of care for rare diseases by the HSE Clinical Programme.
With particular reference to Orphan Drugs, The Oireachtas has put in place a robust legal framework in the Health (Pricing and Supply of Medical Goods) Act 2013, which gives full statutory powers to the HSE to assess and make decisions on the reimbursement of medicines, taking account of a range of objective factors and expert opinion as appropriate.
The 2013 Act requires the HSE to have regard to both the clinical benefits and cost effectiveness but it does not include provision for a different ruleset when assessing orphan drugs. However, both the National Centre of Pharmacoeconomics (NCPE) and HSE are mindful of the differences and challenges in terms of patient numbers when assessing this type of medicine.
In 2019, the HSE has approved 26 new medicines and 5 new uses of existing medicines, 17 of these medicines are for rare diseases.