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 Mater University Hospitals,
National Clinical Lead, National Clinical Programme for Rare Diseases, HSE.
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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 we know 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 families and 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.
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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.
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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 Member State 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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