Gerry Adams
Question:427. Deputy Gerry Adams asked the Minister for Health the status of the all-Ireland network of rare disease registry, and if Bannayan Riley Ruvalcaba syndrome is included in this registry. [45069/15]
View answerTuesday, 15 December 2015
Questions (427, 429, 431, 438)
Gerry Adams
Question:429. Deputy Gerry Adams asked the Minister for Health the shared services in operation on an all-Ireland basis for the diagnosis, management and care of children, and persons with a diagnosis of Bannayan Riley Ruvalcaba syndrome. [45071/15]
View answerGerry Adams
Question:431. Deputy Gerry Adams asked the Minister for Health if any collaboration or discussion has been undertaken regarding the diagnosis and management of rare diseases, including Bannayan Riley Ruvalcaba syndrome, with services and experts in the North of Ireland, Britain or within any other European Union member states; and if he will make a statement on the matter. [45073/15]
View answerGerry Adams
Question:438. Deputy Gerry Adams asked the Minister for Health the progress on the recommendations contained within the national plan for rare diseases. [45080/15]
View answerWritten answers
I propose to take Questions Nos. 427, 429, 431 and 438 together.
Bannayan Riley Ruvalcaba Syndrome (BRRS) is a rare genetic condition that can affect many parts of the body in childhood. As there are approximately 8,000 rare diseases, the National Plan for Rare Diseases was launched in 2014 by the then Minister for Health and this sets out the general approach. The National Rare Disease Plan recommended that an Oversight Implementation Group of relevant stakeholders led by the HSE and including patients' groups, be established to oversee and monitor implementation of the plan's recommendations. This group was established by my Department earlier this year 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 will be responsible for, among others: mapping, developing and implementing care pathways for rare diseases; facilitating timely access to centres of expertise - nationally and internationally; developing treatment guidelines for many rare disorders; 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 last year 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 will ultimately be a channel for advancing and implementing other recommendations in the plan, such as those on National Centres of Expertise for rare diseases; and in this vein, the programme has designed a framework for the designation of Irish Centres of Expertise in line with the recommendations stipulated in the national plan. This framework will touch on a number of recommendations in the national plan, including those that refer to fortifying research functions for rare diseases.
The programme and my Department will be encouraging designated centres of expertise to participate in European Reference Networks (ERNs) for Rare Diseases in line with our national plan. ERNs are European networks connecting health care providers and centres of expertise so that international expertise on specific rare diseases - such as Bannayan Riley Ruvalcaba Syndrome - may be pooled together for the benefit of patients. Any centres 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 our national plan that relate to empowering and protecting patients and carers, and research on rare diseases will be fulfilled in part through this process. In 2014, I announced €850,000 for investment into rare disease research. Five charities will provide matching funding bringing the total investment to €1.9 million. They will share €850,000 in State funding to take part in international research into rare medical conditions.
The establishment of a National Rare Disease Office (NRDO) featured prominently in the recommendations of the National Rare Disease plan. The national office has now been funded and established by the HSE and its work will be led by a Consultant Geneticist who will be supported by a Genetics Counsellor and an Administrative Officer. It will, among other functions, provide 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 with a number of recommendations in mind. These refer to rare disease registries and the utility of data currently captured in health information systems. 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 - including any proposed registry on Bannayan Riley Ruvalcaba Syndrome - will be encompassed by the work of the EU Commission with the participation of EU member states, including Ireland.
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 of this year and published on the Department's website. Two recommendations in the national plan refer to training in rare diseases for healthcare professionals. My Department is contacting 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.