Eoin Ó Broin (Dublin Mid West, Sinn Fein)
Link to this: Individually | In context | Oireachtas source

35. To ask the Minister for Health the status of the development of the rare disease register; the details of the progress made to date on implementing the rare disease plan; and if he will make a statement on the matter. [20213/17]

Marcella Corcoran Kennedy (Offaly, Fine Gael)
Link to this: Individually | In context | Oireachtas source

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. It is, among other functions, providing up-to-date information regarding new treatment and management options, including clinical trials. 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.

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.

The issue of rare diseases and of the creation of an all-island patient register has been raised in the context of ongoing discussions at North-South meetings. The determination of policy and practice in relation to registers in (the Republic of) Ireland is currently being examined in the context of a broader review of health information policy which is underway within the Department of Health.