Press Release

Minister Harris welcomes publication of the Interim Report on the implementation of the National Rare Disease Plan

The Minister for Health, Simon Harris TD, has today welcomed the publication of the Interim Report on the implementation of the National Rare Disease Plan for Ireland.

The National Rare Disease Plan, originally published in July 2014, provides a policy framework for the diagnosis and treatment of people with rare diseases, of which there are between 5000 and 8000.  The plan made 48 recommendations designed to help improve the lives of people affected by rare disease. An Oversight Group – chaired by the Department – was established to oversee progress with the plan.

Speaking on International Rare Disease Day, the Minister said, “There are many challenges for patients living with a rare disease. The purpose of today’s awareness day is to acknowledge them and give a voice to them, their families, carers, health professionals and the general public.”

The Minister continued, “It is particular fitting that we have today an interim report on how the National Rare Disease Plan is progressing. The membership of both the Steering Group which wrote the National Plan and the Oversight Group which is overseeing its implementation was designed to make sure that the patient’s voice is heard. Implementation of the plan is well underway and we are already into the second half of the implementation period.  I want to thank all of the members of the Oversight Group – and particularly patient representatives – for all of the work that they are doing in this important area.”

In 2016 a number of projects were  funded by the State with €1.686m, matched by charity funding of €1.224m. The total funding of €2.91m is shared between 11 charities. Six of the 15 projects with a total value of €1.1m address rare diseases. The next round of this joint funding initiative will open in autumn 2017. The EU commission now intends to explore the possibility to further strengthen the collaboration between Member States and the Commission in the area of research on rare diseases. In addition, rare diseases have already been tabled on the agenda for North-South meetings. Therefore, future work to deepen cooperation between both jurisdictions on rare diseases is anticipated.

The establishment of a National Rare Disease Office (NRDO) featured prominently in the recommendations of the Rare Disease plan. The national office has now been established by the HSE. Its work is currently led by the NCPRD Clinical Lead, Prof Eileen Treacy. It is, among other functions, providing up-to-date information regarding new treatment and management options, including clinical trials. In addition, the post of Information Scientist for the office is being funded jointly by the HSE and the EU Commission.

Interim Report on National Rare Disease Plan for Ireland 2014-2018

ENDS

NOTE FOR EDITORS

The National Rare Disease Plan recommended that an Oversight Implementation Group of relevant stakeholders, including patients’ groups, be established to oversee and monitor implementation of the plan’s recommendations. This group was established by the Department of Health in 2015 and it has met on a number of occasions. One of the principal recommendations in the Plan was the establishment of a National Clinical Programme for Rare Diseases. This programme was to be responsible for, over time and among other functions, assisting with mapping and developing care pathways for rare diseases; facilitating timely access to centres of expertise – nationally and internationally; and developing care pathways with European Reference Centres for those ultra-rare disorders where there may not be sufficient expertise in Ireland.

In line with this recommendation, a National Clinical Programme for Rare Diseases was established in 2013 under the National Clinical Strategy and Programmes Division of the HSE. The programme is a joint initiative between the HSE and the Royal College of Physicians of Ireland. This clinical programme is the channel for assisting with the advancement of a number of other recommendations in the plan, such as those on National Centres of Expertise for rare diseases; and in this vein, the programme designed a framework for the designation of Irish Centres of Expertise in cooperation with the HSE Acute Hospitals Division in line with the recommendations stipulated in the national plan.

The Rare Diseases National Plan also recommended that  ‘the National Clinical Programme for Rare Diseases through a National Office for Rare Diseases develop the clinical and organisational governance framework that would underpin care pathways and access to treatment for rare disease patients, particularly in the context of transition from paediatric to adult care’. As such the National Clinical Programme has developed a draft transition model of care which is currently in the public consultation stage.

The National Clinical Programme for Rare Diseases and the Department of Health encouraged designated centres of expertise to participate in European Reference Networks (ERNs) for Rare Diseases in line with the national plan. ERNs are European networks connecting health care providers and centres of expertise so that international expertise on specific rare diseases may be pooled together for the benefit of patients. Any centre applying for membership of an ERN must have strategies in place to ensure that care is patient-centred; that patients’ rights and preferences are respected; and must show a research component to their work. Hence, the recommendations in the national plan that related to empowering and protecting patients and carers, and research on rare diseases will be fulfilled in part through this process. It is expected that ERNs will have a major structuring effect by linking thematic expert centres across the EU.

With the encouragement of the National Clinical Programme for Rare Diseases and the Department of Health, five centres of expertise were designated in June 2016 during the first round of calls from the European Commission for participation in European Reference Networks. Three of these designated centres applied for membership of ERNs and two were approved.

In 2014, the Minister for Health announced €850,000 for investment into charity-led research priorities, which particularly benefits rare disease research. Five charities were to provide matching funding bringing the total investment to €1.9 million. They were to share €850,000 in State funding to take part in international research into rare medical conditions. . In 2016, the next cohort of projects was funded by the State with €1.686M, matched by charity funding of €1.224M. The total funding of €2.91M is shared between 11 charities. Six of the 15 projects with a total value of €1.1M address rare diseases. The next round of this joint funding initiative will open in autumn 2017. The EU commission now intends to explore the possibility to further strengthen the collaboration between Member States and the Commission in the area of research on rare diseases.

The establishment of a National Rare Disease Office (NRDO) featured prominently in the recommendations of the Rare Disease plan. The national office has now been established by the HSE. Its work is currently led by the NCPRD Clinical Lead, Prof Eileen Treacy, supported by an Information Scientist, part-time Administrative Officer, part-time Genetic Counsellor and by a 0.2FTE Consultant Geneticist. It is, among other functions, providing up-to-date information regarding new treatment and management options, including clinical trials. In addition, the post of Information Scientist for the office is being funded jointly by the HSE and the EU Commission.

The NRDO has already performed a preliminary situation analysis of the existing rare disease registries and is in the process of assigning these known registries on our national Orphanet site, which is the international rare disease reference and information portal funded by the EU. The EU Commission has started the development of a European Platform on Rare Diseases Registration. Its principal goal is to enable sharing and use of rare diseases’ patient data across Europe, among the multitude of existing patient registries, within and across rare diseases. Thus the registration of all registries in Ireland will be encompassed by the work of the EU Commission with the participation of EU member states, including Ireland.

A number of recommendations about access to appropriate drugs and technologies were contained in the plan. One chief recommendation in this regard refers to the HSE developing a Working Group to bring forward appropriate decision criteria for the reimbursement of orphan medicines and technologies; and that the approach should include an assessment system similar to that for cancer therapies established under the National Cancer Control Programme. The HSE Acute Hospitals Division is developing the terms of reference, required membership and reporting relationship for this committee This Committee will also be supported by the National Clinical Programme for Rare Diseases Clinical Advisory Group.

The national plan for rare diseases recommended that the Health Identifiers Bill and the Health & Patient Safety Bill be published. The former was published in 2013 and enacted in 2014.  The Individual Health Identifier part of the project is now being implemented by the HSE.  A revised and much expanded General Scheme of a Health Information and Patient Safety Bill was approved by the government in November 2015 and published on the Department’s website.  It is currently with the Attorney-General’s Office for formal drafting and with the Oireachtas Committee on Health for Pre-Legislative Scrutiny.

Two recommendations referred to training in rare diseases for healthcare professionals. The Department of Health has contacted formally the various healthcare representative and professional bodies about implementing these recommendations.