Aengus Ó Snodaigh (Dublin South Central, Sinn Fein)
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93. To ask the Minister for Health the status of the implementation of the 48 recommendations of the national steering group on rare diseases; the specific actions that are being taken on access to medication and technology; and if he will make a statement on the matter. [37862/16]

Simon Harris (Wicklow, Fine Gael)
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The National Rare Disease Plan for Ireland (2014 - 2018) 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, over time and among other functions, to assist with mapping and developing care pathways for rare diseases; facilitating timely access to centres of expertise – nationally and internationally; in 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 a 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 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 paediatrics to adult care'.

As such the National Clinical Programme has developed a draft transition model of care which will be entering a consultation stage very shortly.

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, Acute Hospital Divisions in the HSE and the Department of Health, five centres of expertise were designated in June this year 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.

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 €1.686 million, matched by charity funding of €1.224 million. The total funding of €2.91 million is shared between 14 charities. The next round of this joint funding initiative will open in 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 was established by the HSE in June 2015. Its work is currently led by the NCPRD Clinical Lead, supported by an Information Scientist, part-time Administrative Officer, part-time Genetic Counsellor and by a 0.2 FTE 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.

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 has advised my Department that its Acute Hospitals Division is developing the terms of reference, required membership and reporting relationship for this committee which will parallel the National Cancer Control Programme Technology Review 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. It 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.

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.

Finally, 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.