Joint Committee on Health and Children

27th February 2014

Opening Statement

By

Prof. Eileen Treacy

Consultant in Metabolic Diseases, National Centre for Inherited Metabolic Disorders, Children’s University and MaterUniversityHospitals,

National Clinical Lead, National Clinical Programme for Rare Diseases, HSE.

I would like to thank Mr. Buttimer and the Oireachtas Joint Committee for the opportunity to speak with you today.

As you know a ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. There are an estimated 6-8,000 known rare diseases affecting up to 6% of the total EU population, perhaps up to 300,000 Irish people during their lives. Approximately 80% of these conditions are genetic and although a high proportion present in childhood, many also present for the first time in adulthood. In Europe, it is recognized 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 leading to poor coordination and communication, a lack of national policies with limited and fragmented clinical and research resources and often the lack of national specific clinical expertise for the condition leading to inefficient use of limited resources.

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 response is to seek a cure. With major advances in genetic technology and emerging therapies, many conditions previously considered to be untreatable, now have new therapeutic approaches.

In Ireland weknow that in the current challenging times of significantly reduced health care spending and reduced employment numbers 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 successful health system has three attributes: it attains the highest level of health possible with superior care, it is effective, safe, timely, patient centered, equitable and efficient and that treatment is applied without discrimination and disparities to all individuals and familiesand that the system is also fair to the health professionals and institutions supporting and delivering care. A sustainable health system must also be affordable, acceptable to constituents and health professionals and be adaptable to changing health care needs, to new diseases and new treatments. The central issue for many involved in the rare disease patient journey is fragmented and uncoordinated care.

In 2009 a European Council Recommendation called for member states to adopt a plan or strategy for rare diseases, preferably by the end of 2013. This will be elaborated in our 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:

1) The equality of access to services, care, treatment and support for all rare disease patients in Ireland, whether children or adults,

2) the identification and setting up Centres of Expertise for multidisciplinary care and,

3) improving the co-ordination and integration of services whether provided in Ireland or in collaboration with neighboring European Centres.

We are pleased to report that the HSE commenced a National Clinical Programme for Rare Diseases in December 2013 and the Working Group held its first meeting earlier this week. This 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 the quality of life and be cost-effective.

In Ireland, with the development of the National Clinical Programmes, it is evident that successful implementation and transformation can occur with improved efficiencies, as evidenced by the success of the National Cancer Control Programme (which incorporates care of rare cancers) and the recent developments in the care of patients with Cystic Fibrosis. The National Centre for Hereditary Coagulation Disorders provides multidisciplinary care for children and adults with hereditary coagulation disorders and the sustainability of its quality is governed by the National Hemophilia Council.

It is likely 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 or requiring very expert specialised care such as at the National Centre for Medical Genetics (NCMG) and the National Centre for Inherited Metabolic Disorders (NCIMD).

As about 80% of rare diseases are genetic in origin, 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 genetic counseling 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.

National Rare Diseases Office

The ongoing consultation process with all stakeholders and the emerging National Plan calls for the establishment of a central National Rare Diseases Office (NRDO) linked to the NCPRD to provide up to date information regarding new treatments and management options for all Irish patients affected with Rare Diseases. This office is proposed to act as a national point of reference for enquiries relating to services, diagnostics, and clinical trials, linked to established databases such as ‘Orphanet’. For this function, support by the representative MemberState is one of the core EUCERD outcome indicators for rare diseases national plans/strategies. It is proposed that such a model of care would improve the patient experience, facilitate safe quality care, expedite diagnosis and the correct treatment, improve communication and education, and prove to be cost efficient. It is clear that funding of this office would provide significant cost-efficiencies as elaborated in my submission. The core economic benefit, to the State, of the establishment of a central Rare Disease Office, will be the streamlining of access to diagnosis for patients and appropriate quality treatments with increased efficiencies.

Recommendations and Strategies to meet European Recommendations:

Moving forward, the areas to be addressed will include:

1) Appropriate governance of CoEs and the National Rare Diseases Office

2) Establishing the required financial/sustainability models

3) Allocation of human and physical resources

4) Organisation and management of service delivery

Recommendations will be forthcoming in the Rare Disease Plan for 2013-2018 and we are well on the journey with the commencement of the NCPRD.

Firstly, to engage with and meet the upcoming EU timeframes and our obligations, it is essential that a robust central governance model is prioritised, supported and implemented for the NCMG and NCIMD. This should include the provision and management of centralised ring-fenced budgets and ‘money follows the patient’ initiatives for adult as well as paediatric patients.

Secondly, support for the development of a functional comprehensive National Rare Diseases Office that accommodates an information helpline and access to the Orphanet (EU Registry) database is prioritised.

Thank you

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