Professor Eileen Treacy:

Good morning. I thank Deputy Buttimer and the joint committee for the opportunity to speak today. Members have heard that rare diseases are life-threatening or chronically debilitating diseases affecting up to 300,000 Irish people during their lives. Although a high proportion of these conditions present in childhood, many present for the first time in adulthood. Across Europe, it is recognised that accurate and timely diagnosis and access to treatment for individuals with rare diseases are severely hampered by their lack of recognition and visibility in health care systems. This leads to poor co-ordination and communication with limited and fragmented clinical and research resources and often a lack of national specific clinical expertise for the condition. After the devastating news of the diagnosis of many of these severely debilitating, life-changing conditions is provided to those affected and their families, the normal response is to seek a cure. Fortunately, major advances in genetic technology and emerging therapies mean that many conditions, previously considered to be untreatable, now have major therapeutic approaches.
In Ireland, challenging times of significantly reduced health care spending and reduced HSE employment numbers mean that marginalised and vulnerable people suffer most unless significant protective mechanisms are put in place. The document Future Health: A Strategic Framework for Reform of the Health Service 2012-2015 explicitly outlines the Government's commitment to faster access to hospital care, improved quality and safety for all Irish patients and better treatment of chronic illness. According to Fineberg, a US expert writing in 2012, a successful health system is effective, safe, timely, patient-centered, equitable and efficient. Treatment is applied without discrimination to all individuals and families. The system must also be fair to the health professionals and institutions delivering care. A sustainable health system must also be affordable and adaptable to changing health care needs, new diseases and new treatments. Members will be aware of a 2009 European Council Recommendation calling for action in this area. This will be elaborated in our emerging national plan and has been described in my written submission.
I now wish to focus on a number of key items in the patient journey. These are equality of access to services, care, treatment and support for all rare disease patients in Ireland, whether children or adults; identification and establishment of centres of expertise for multidisciplinary care; and improving the co-ordination and integration of services whether provided in Ireland or in collaboration with neighbouring European centres. We are pleased to report that the HSE commenced a national clinical programme for rare diseases in December 2013. The working group held its first meeting earlier this week. The programme aims to provide clinical expertise for those affected with rare diseases to be provided through a network of national centres of expertise or, for very rare disorders, in collaboration with European designated centres. Timely access to appropriate diagnosis and care should result in decreased mortality, morbidity and disability, improve quality of life and be cost-effective.
In Ireland, the development of national clinical programmes has demonstrated that successful implementation and transformation can occur with improved efficiencies. This was evident in the success of the national cancer control programme and recent developments in the care of patients with cystic fibrosis. A further example is the National Centre for Hereditary Coagulation Disorders which provides multidisciplinary care for children and adults with hereditary coagulation disorders. Its quality is governed by the National Hemophilia Council. It is anticipated that staffing and sustainability issues for the principal national centres diagnosing and treating large cohorts of patients will require attention. Resources are required to provide safe, timely access to diagnosis, multidisciplinary care and treatment for rare disease groupings of high volume, which are provided locally, or requiring very expert specialised care such as such as at the National Centre for Medical Genetics and the National Centre for Inherited Metabolic Disorders.
The joint committee has heard that approximately 80% of rare diseases are genetic in origin, which means that effective genetic services have a vital role to play in diagnosis and prevention. The Council of Europe Convention on Human Rights and Biomedicine recommends that appropriate, timely genetic counselling is provided for individuals undergoing predictive genetic tests. Early genetic diagnosis, screening and early treatment is highly cost effective. The establishment of a national clinical programme for rare diseases represents a major step forward in the management of rare diseases in line with EU recommendations. We can now move quickly to benefit from the available EU collaboration.
The ongoing consultation process with all stakeholders and the emerging national plan calls for the establishment of a central national rare diseases office linked to the national clinical programme to provide up to date information on new treatments and management options for all Irish patients affected with rare diseases. The office is proposed to act as a national point of reference for enquiries relating to services, diagnostics and clinical trials. It would be linked to established databases, particularly the European information portal, Orphanet. For this function, support by the representative member state is one of the key outcome indicators for rare diseases, national plans and strategies. It is evident that such a model of care would improve the patient experience, facilitate safe quality care, expedite diagnosis, provide the correct treatment, improve communication and education and prove to be cost efficient. The economic benefit to the State of the establishment of a central rare diseases office will stem from the streamlining of access to diagnosis for patients and appropriate quality treatments with increased efficiencies.
The recommendations and strategies to meet European recommendations will cover appropriate governance of centres of expertise and the national rare diseases office; establishment of the required financial and sustainability models; and allocation of human and physical resources and the organisation and management of service delivery. Recommendations will be forthcoming in the rare disease national plan. We are well on the journey with the commencement of the clinical programme.

If we are to engage with and meet the upcoming EU timeframes and our obligations, it is essential a robust central governance model is prioritised, supported and implemented for the National Centre for Medical Genetics and the National Centre for Inherited Metabolic Disorders. This should include the provision and management of centralised, protected and ring-fenced budgets and so-called money follows the patient initiatives for adult and paediatric patients. As my colleagues have mentioned, support for the development of a functional and comprehensive national rare diseases office that accommodates an information helpline and access to the European Orphanet portal database should be prioritised. I thank the members of the joint committee.