Ms Helen Byrne:

I thank the committee for the invitation to attend the meeting to discuss tackling rare diseases. I am joined by my colleague, Dr. Colm Henry, national clinical advisor and group lead for acute hospitals. The Department of Health’s first national rare disease plan, A Rare Disease Plan for Ireland 2014-2018, was published in July 2014 in line with European Council recommendations. The National Clinical Programme for Rare Diseases, NCPRD, in Ireland was initiated in December 2013 under the national clinical strategy and programmes division of the HSE in collaboration with the Royal College of Physicians Ireland with a view to improving and standardising the quality of care for patients with rare diseases in Ireland. Professor Eileen Tracey, clinical lead, and a programme manager were appointed for the programme. The key initial priorities for the clinical programme are to assist with the identification and designation of national centres of expertise, with a view to having the option to join European reference networks, to facilitate the development of a NRDO in line with the European information portal for rare diseases, Orphanet, and the development of care pathways for the more common rare diseases.

The NCPRD developed a business model for a NRDO in 2014, and applied for entry to the EC rare diseases joint action. Funding for 2015 has been allocated for the following staff for the office: a full-time information scientist, half of which will be funded by EU for three years; a full-time genetic counsellor; a consultant geneticist, 0.3 whole-time equivalent; and administrative support, 0.5 whole-time equivalent. Recruitment is under way for the information scientist. The four main functions of the NRDO include building information on the availability of expertise in Ireland for rare diseases and making this information available on the Orphanet web site as a resource for both patients and clinicians; a helpline for patients with access to a genetic counsellor; supporting the HSE in the mapping and validation of centres of expertise in Ireland; and in the long term, a role in rare diseases surveillance.

The NRDO will be based in the Mater Misericordiae University Hospital pending the establishment of the new national children’s hospital. It is hoped to launch the opening of the office in late in the second quarter of 2015. The core benefit to the population and the State of the establishment of a central rare diseases office will be the streamlining of access to diagnosis for patients and appropriate quality treatments with increased efficiencies in the delivery of care. Professor Eileen Tracey, clinical lead, is the designated co-ordinator for the island of Ireland and the designated person to participate in the EC Joint Action on Rare Diseases. Her work will include establishing and validating the Orphanet information and function in Ireland through the NRDO and the dissemination of information nationally for rare diseases. Her participation in this project is due to commence in May 2015.

The HSE NCPRD-acute hospitals division is currently embarking on an exercise to identify and designate existing centres of expertise for diagnosis, multidisciplinary care, clinical research and training in rare diseases according to accepted European criteria. The initial sites to be reviewed for the three major services being considered for 2015 and early 2016 are clinical genetics in Our Lady’s Children’s Hospital, Crumlin; inherited metabolic disorders in Children’s University Hospital, Temple Street; and hereditary coagulation disorders in St. James Hospital and Our Lady’s Children Hospital, Crumlin. This work will also inform the identification of centres of expertise abroad for patients whose disorders cannot be fully served in Ireland in collaboration with European reference networks and the development of processes for patients to access this expertise for timely diagnosis and care.

As a member state, we have obligations under EC Directive 2011/24/EU, application of patients' rights in cross border health care. This directive is of particular relevance to patients with rare and ultra-rare diseases. This directive on the application of patients’ rights in cross-border health care will strengthen co-operation between highly specialised healthcare providers across the Union by the establishment of a system of European reference networks. Establishing such networks of highly specialised healthcare providers will help to provide affordable, high-quality and cost-effective healthcare to Irish patients requiring a particular concentration of resources or expertise which may be available in Europe but not specifically in Ireland. European reference networks for rare diseases should serve as research and knowledge centres, treat patients from other EC countries and ensure the availability of subsequent treatment facilities where necessary. The HSE has established a national contact point to facilitate information regarding the treatment abroad scheme and the cross-border care directive. Further information is available on the HSE website.

It is hoped that the national rare disease office will, in time, also assist with and facilitate the national contact point for queries involving rare disease patients.

A recommendation of the national rare disease plan was for the national clinical programme for rare diseases through a national office for rare diseases develop the clinical and organisational governance framework that will underpin care pathways and access to treatment for rare disease patients, particularly in the context of the transition from paediatric care to adult care. The national clinical programme for rare diseases has now assembled a sub-group to develop a model of care for this work.

This concludes my opening statement and together with my colleague we will endeavour to answer any questions Members may have.