James Reilly (Dublin North, Fine Gael)

Ba mhaith liom buíochas a ghabháil leis na Seanadóirí as seans a thabhairt dom labhairt ar an ábhar tábhachtach seo.

At the very centre of this issue are both adults and children who suffer from rare diseases in Ireland. The patient must be central to everything we do in health care. No matter how clever or elegant a policy or a strategy is, if it does not improve patient care or experience, it is worth nothing. Rare diseases are life threatening or chronic debilitating conditions affecting no more than five in 10,000 people. Between 5,000 and 8,000 rare diseases have been described, affecting about 6% to 8% of the population in the course of their lives. Approximately 80% of rare diseases have a genetic origin and the life expectancy of patients with rare diseases is significantly reduced. Many of these conditions are complex, severe and debilitating.

In the past several years a considerable amount of work has been done in Ireland, as well as at European level, in the area of rare diseases. The twin approach of developing a specific national plan, together with European collaboration, is the key element to improve health and social care for people with rare diseases.

Ireland has been supportive of the EU proposals on rare disease which concluded with a Council recommendation on rare diseases in June 2009. This requires that member states develop a rare disease policy by 2013.

Ireland also participates in a number of European Commission committees that support work on rare diseases at EU level. For example, EUROPLAN, the European Project for Rare Disease National Plans Development, is a three-year project involving all member states that is aimed at supporting countries in the development of their national plans and strategies. The Commission standing committee on rare diseases, EUCERD, was established to progress the Council recommendations on rare diseases and to support the relevant work. In January 2011, a national conference was held in Farmleigh with the support of EUROPLAN and brought together patients, patient organisations and health care professionals to discuss what might feed into the development of a national strategy for rare diseases. I welcome to the Visitors Gallery some of those who attended the conference, including Ms Avril Daly, Mr. Tony Heffernan, Ms Margaret Webb, Dr. Avril Kennan, Ms Patricia Towey, Ms Judy Windle, Professor Eileen Treacy, Ms Anne Lawlor and Ms Karen Pickering. As they will see from the course of my contribution, the Government is intent on pursuing the objective of placing greater emphasis on rare diseases and clear pathways of treatment within the HSE and the Department.

The organisation of the conference enabled patient, scientific, medical and industry representatives who have been working closely on the rare disease agenda for more than a decade to engage with relevant State agencies in a co-ordinated and productive way. The EUROPLAN conference played a significant role in the progression of the national plan for rare diseases.

I have made a commitment to progressing this agenda. In April 2011, I established a national steering group to develop a policy framework for the prevention, detection and treatment of rare diseases based on the principles of high-quality care, equity and patient centricity. It is to review existing provisions and identify priority actions subject to resource availability. The policy will operate for a five-year period, take account of the 2009 Council recommendation on rare diseases and define priority actions subject to resource availability.

The membership of the group, which is chaired by my Department, includes those organisations with a remit or a special interest in rare diseases. The broad-based membership ranges from the HSE, HIQA, the Health Research Board, the Irish Medicines Board and the Institute of Public Health in Ireland to the Irish Platform for Patients' Organisations, Science and Industry, the Genetic and Rare Disorders Organisation, GRDO, Fighting Blindness, the Medical Research Charities Group, MRCG, and Bee for Battens. It is important to note that there is a strong commitment from every stakeholder, which is key in the ongoing development of the national plan for rare diseases.

The national steering group identified a number of issues relating to rare diseases for consideration, including centres of expertise, access, medication and technology, research and information and patient empowerment and support. It is continuing with this work and a range of issues within these areas are under consideration.

The development of networks for the provision of equity and safe care to all patients with rare diseases, whether provided from a recognised national centre of expertise or by linkage through the patients' health care providers to recognised European reference networks, ERNs, is a key priority.

Centres of expertise are multidisciplinary care centres providing high quality medical treatment, genetic testing and counselling and social services. The EUROPLAN report, which examined services across Europe, commented that, in most countries, there were no designated centres of expertise. Even where they exist, there is significant variation in their organisation and how they operate.

The rationale for developing centres of expertise is well established. Rare disorders require highly specialised multidisciplinary medical teams and social service providers. Concentration of expertise in a physical or virtual structure brings together competencies and reduces health care costs by contributing to shorter delays in diagnosis, less adverse consequences and a reduction in misdiagnoses and unnecessary treatments. In addition, the designation mechanism for centres of expertise, the definition of health care pathways, the promotion of cross-Border health care, accessibility to genetic counselling and the quality assurance of genetic testing are being considered in this context. I am happy to report that I have had many good meetings with the North's Minister of Health, Social Services and Public Safety, Mr. Edwin Poots, MLA. This will be another subject matter that we will be considering.

An integral and essential part of an effective policy framework will be the development of a dedicated HSE clinical programme. I understand that a proposal has been submitted to the HSE's national director of clinical strategy and programmes to establish a national clinical programme for rare diseases. The proposal encompasses the development of a programme to facilitate timely access to centres of expertise nationally and internationally and to provide up-to-date information on new treatments and management options and on ongoing clinical trials for all patients affected with rare diseases in this country. It also aims to develop a model of care designed to improve the patient experience, provide safe quality care, improve communication, education and interfaces with community partners and be cost efficient.

The proposal suggests that a national rare diseases programme would collate and assist with developing national treatment guidelines, standard operating procedures and care pathways for many rare disorders in collaboration with the designated reference centres. It would also develop care pathways with European reference centres for those "ultra rare disorders" in respect of which there may not be sufficient expertise in Ireland. The HSE has agreed to establish a programme. However, the details remain to be worked through.

The National Centre for Medical Genetics, NCMG, was established in late 1994 in Our Lady's Children's Hospital, Crumlin with the objective of providing a clinical and laboratory genetic service for those affected by or at risk of a genetic disorder and is the only centre in Ireland providing such a service. Staffing numbers have increased at the centre since its establishment and an extension to the centre was opened in 2010. The NCMG has always aimed to provide an equitable clinical service nationwide and runs outreach genetic clinics in Cork, Galway and Limerick and, less frequently, in Castlebar, Sligo, and Letterkenny. It interacts with a wide range of existing service programmes, including in the areas of cancer, intellectual disability, paediatrics, metabolic diseases and cystic fibrosis.

The National Centre for Inherited Metabolic Disorders, NCIMD, is a tertiary referral service linked to the national newborn screening programme, which follows more than 1,800 patients, both children and adults, nationwide. These patients have a wide variety of inherited metabolic disorders that are all rare disorders, with more than 400 new referrals per year.

The centre is unique in its position as the only tertiary care referral centre for the investigation and treatment of metabolic genetic diseases, a major subset of more than 200 rare disorders in Ireland. The national centre plays a major public health role in preventing and treating disability for the population. Following more than 40 years of screening, more than 40% of the cohort of patients followed by NCIMD are currently over 16 years of age. This number is likely to increase over time.

I understand that funding for medications and the development of the adult service at the Mater are also under discussion with the HSE. I cannot overemphasise the need for parents to seek diagnoses. In that way, they can at least know what they are dealing with and start on the difficult road towards addressing diseases as best they can. Without a diagnosis, dealing with a disease is difficult.

Access to appropriate medication and technology in the context of transparent processes to ensure equitable access to orphan drugs as well as the issue of orphan drug development is being examined. Defining where there are gaps in the system for patients in the context of access to treatment and recommending a pathway for those orphan drugs that might fall outside the current systems for pricing and reimbursement are priorities. The aims of the pathway would be to improve overall health and well being, improve operational efficiency and efficiency of decision making processes and align investment to national policy. Also seen as important is the ready availability of national figures on the usage of orphan medicines and reimbursement data to support research initiatives.

It is acknowledged that research is an integral part of the overall care for rare diseases, including access to clinical trials where appropriate. In this context, the proposals for how best to develop a research infrastructure are being examined, particularly in an international context where there is obvious added value in working with European partners on programmes for rare disease research. It is important that people be willing to become involved in clinical trials. Not only does their participation afford them the opportunity to avail of cutting edge medicines that are unavailable elsewhere but the level of supervision during such trials is far superior to what would normally be available during a course of treatment, given the constraints around trials. While in the past there may have been some reluctance to become involved in such trials, we should be more willing to consider them. As the parent of a child with a serious disability, thankfully much better now than in his younger years, I know that my wife and I would have tried anything to secure a better future. I hope that parents and sufferers themselves, following proper consultation with their carers and medical professionals, will not be afraid to avail of the newer treatments that come on stream.

One of the big issues for us is defining where there are gaps in the system for patients in the context of access to treatment and recommending a pathway for those orphan drugs. We will need to ensure we find a clear way to make these available to as many of those who wish to avail of them as possible. Research is a key part of what the Government is doing. This morning, I launched a conference on medical device research and on Monday opened a new centre in Cork for the health research bureau at the Mercy Hospital with a commitment of €5.9 million for further research into different diseases. We will continue to support research as it is the area that offers the most hope for people who suffer from rare diseases and also opens up societal opportunities at a greater level in terms of jobs.

In tandem with the research agenda, the group is also considering the information systems that are required and the most appropriate registries and databases which can be used to plan and manage services in Ireland. The challenge is that there are a number of individual registries, specific rare diseases registries, and registries with a wider remit which also record cases of rare diseases rather than a dedicated national rare disease registry. However, I believe this can be overcome more quickly than people imagine if we can design a portal into which all these different registers can feed. Then we will have the national register with the national information we need. Ultimately, it is about information and a proper and well organised service that can sometimes yield much greater results than were possible hitherto. I have often quoted Dr. Susan O'Reilly on the cancer care programme. She showed that a 10% improvement in organisation and management has yielded a 10% improvement in outcomes for people with cancer - nothing to do with the medication at all.

It is acknowledged that patient empowerment and support is integral to national rare disease planning and the steering group is working on what can be done to empower patients and their families in a meaningful way. In addition, the national steering group is planning to consult patients and key stakeholders in early summer on the broad proposals and recommendations that will emerge. I believe what is required when it comes to any disease - particularly rare diseases - is involving those who suffer and the families who care for them as well as those who deliver the care. That is where we get the best dividend and find out far more quickly how to get the best result.

It is important that the group complete its work. I would expect that a robust, achievable plan can be agreed that will lead to providing better information for patients; designating appropriate centres to provide high-quality treatment; setting out a fair and transparent means to allow access to orphan drugs; and promoting research for the benefit of patients with rare diseases. I understand that the timeframe for submitting a report to me is during the latter half of this year. As we work towards a national plan for rare diseases it is important that the evident commitment shown among all organisations and groups involved in the development of how the issues and challenges connected with rare diseases are managed is continued. Our aim is to continue to work at developing practical plans to impact positively on the health, well being and daily lives of those patients affected by a rare disease and their families. I hope we will have that for our Presidency of the European Union in 2013.