National Rare Disease Office Launch
Check against Delivery
4th of June 2015, 9am at the Mater Hospital
I’m very pleased to open the National Rare Disease Office. I know it has taken a lot of work to get us to this point and I want to acknowledge that today.
This is a very significant, and a very positive day for the treatment of rare diseases in Ireland. The opening of the National Rare Disease Office is good for patients, for their families, and for their carers.
The Irish health service is changing. We are moving from a difficult period of retrenchment, to one of growth and expansion. We are also shifting the emphasis away from hospitals and into primary and community care. Our end goal is to provide genuine universal health care. There is a renewed focus on being healthy, staying healthy and coping with chronic disease. And the Clinical Care Programmes – including Rare Disease Programme – have been very positive developments, and are raising the standard of care.
People with Rare Diseases
We know that a very large number of diseases are classed as rare – somewhere between 5,000 and 8,000. Despite their rarity, these diseases affect millions of EU citizens, because there are so many individual cases.
I understand the challenges that these people face. At the start of their journey, patients often find it hard to get an accurate diagnosis. This can be due to a lack of expertise or knowledge about a particular condition. There may also be delays in getting appropriate treatment for the same reasons. And there is often a heavy burden for carers and families of people with rare diseases.
We know that people living with a rare disease and their families – especially parents of young children – are often the leading ‘experts’ in their diseases. It’s important that we recognise this and provide the necessary supports.
It’s widely accepted that we need to adopt a global approach if we’re going to improve services and care for people affected. We need to pool knowledge and expertise across countries, so that people can access care and professional expertise. Fortunately the EU is now very active in this area and Ireland is playing a key role.
Ireland’s first National Rare Disease Plan acknowledges the many challenges facing patients and their families. This Plan gives us a roadmap for the prevention, diagnosis and treatment of rare diseases.
It followed on from the work of the EU Council, which also acknowledged the scarcity of knowledge and expertise in the field of rare diseases.
The National Plan was published nearly a year ago and made 48 recommendations, covering:
• information and research on rare diseases;
• prevention, diagnosis and care;
• access to appropriate drugs;
• and supporting rare disease patients and carers.
The HSE has established a National Clinical Programme for rare diseases, as a joint initiative between the HSE and the RCPI. It aims to improve access to timely diagnosis, care and expertise. It will also implement other recommendations set out in the National Plan, such as identifying National Centres of Expertise for rare diseases, and helping them to take part in European networks for specific rare diseases.
These European networks – known as European Reference Networks – are the best opportunity to get access to international expertise.
They help countries to co-operate on highly specialised treatment options, to improve diagnosis, and to deliver high-quality, accessible healthcare for patients requiring particular expertise.
A Clinical Lead has been appointed to the National Clinical Programme, supported by a Clinical Advisory Group comprising professionals and patient groups with an interest in rare diseases.
The Clinical Programmes Directorate is also setting up a group to look at how access to orphan drugs can be improved. Meanwhile, research on rare diseases has benefited from the €6.9 million allocated by the Health Research Board since 2010.
Work is also planned to code rare diseases in our health information systems. This will tell us how many rare diseases are being diagnosed and managed in our health service, and will point to the needs of these patients.
A new National Oversight Group has been set up by my department. It is made up of patient representatives, the Health Research Board, the HSE and officials from my department. Its job is to oversee and monitor the implementation of the recommendations set out in the National Plan.
National Rare Disease Office
The National Plan recommended that a National Rare Disease Office be established. This would help patients to access the Centres of Expertise identified in Ireland and elsewhere, and provide up-to-date information on new treatments – including clinical trials. The Rare Disease Office is expected to be supported by the National Clinical Programme.
The National Plan also recommends setting up an Irish team to co-ordinate activity on Orphanet –an encyclopaedia of rare diseases and other information which is available worldwide. This local team will provide accurate information about specialised clinics, treatments, medical laboratories, registries, and clinical trials.
I expect the Rare Disease Office will act as a national point of reference for enquiries about services, diagnostics and clinical trials. It will have a helpline function, and over time will develop a role in rare diseases surveillance. Its work will be led by a Consultant Geneticist, supported by a Genetics Counsellor and an Administrative Officer.
The HSE allocated funding to set up the Rare Disease Office this year. It’s being set up under the auspices of the Mater hospital and will also be based here. The European Commission has agreed to part-fund a post of Information Scientist for the Office. The Office will be crucial in building a national picture of rare diseases and guiding future policies.
I see it becoming a focal point for rare diseases, building up information and expertise on treatment and services, nationally and internationally. It will be hugely important for patients and clinicians.
Officials from both North and South of the border have met on a number of occasions to discuss our respective plans for rare diseases. These meetings have been positive and helpful, and have deepened cross-border cooperation in this area. I want to see this co-operation continue, and I want to see all avenues being explored to deepen the relationship. Rare diseases are now being considered at the North South Ministerial Council meetings.
I wish the National Rare Disease Office the very best as it begins its work. I know that it will make a big difference to the lives of patients with rare diseases in years to come, along with their families and carers.