Dáil Éireann Debate, Tuesday - 12 July 2022
976. Deputy Colm Burke asked the Minister for Health the status of implementation of the key actions outlined in the National Rare Disease Plan 2014-2018; the timeline for the implementation of remaining actions; when a successor plan will be published; and if he will make a statement on the matter. [37812/22]
View answer977. Deputy Colm Burke asked the Minister for Health if his Department intends to follow through on the programme for Government’s clear commitment to publish a successor plan to the National Rare Disease Plan 2014–2018; the reasons for the delay in prioritising all remaining actions; and if he will make a statement on the matter. [37813/22]
View answer978. Deputy Colm Burke asked the Minister for Health the work that has been done to prioritise the remaining actions in the National Rare Disease Plan 2014-2018; the deadlines for implementing these actions; the progress that has been made to date; and if he will make a statement on the matter. [37814/22]
View answer979. Deputy Colm Burke asked the Minister for Health if a new liaison person within his Department has been appointed to oversee implementation of the National Rare Disease Plan; if a review conducted by the former liaison person will be published; and if he will make a statement on the matter. [37815/22]
View answer992. Deputy Colm Burke asked the Minister for Health if a position has been identified within his Department that focuses solely on rare disease policy; if he plans to establish such a position for rare disease policy; and if he will make a statement on the matter. [37832/22]
View answer993. Deputy Colm Burke asked the Minister for Health the status of all programme for Government commitments to ensure an increased focus on rare diseases as outlined in the programme for Government; and if he will make a statement on the matter. [37834/22]
View answerI propose to take Questions Nos. 976, 977, 978, 979, 992 and 993 together.
A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000 people. There are approximately 8,000 known rare diseases; 80% of rare diseases are of genetic origin and are often chronic and life-threatening. Up to 1 person in 12 in Ireland may have a rare disease at some stage in their life. Approximately 300,000 persons in Ireland are living with a rare disease.
Many of the recommendations of the National Rare Disease Plan for Ireland (2014 – 2018) have already been implemented including the establishment of a National Rare Disease Office (NRDO) and HSE National Clinical Programme for Rare Diseases which has now been operationalised and incorporated into the NRDO which is the main contact point and driver for National HSE rare disease projects and initiatives.
The National Rare Disease Plan elaborates on Ireland’s participation in European Reference Networks (ERN). ERNs are virtual networks involving healthcare providers across Europe where the networking of knowledge and expertise through reference centres and teams of experts takes place. These links are emphasized in the Plan to address the care of patients with rare diseases at both National and European levels. Significant progress has been made with regard to participation in ERNs with Ireland’s 15 applications for entry to ERNs recently being approved from 5 academic hospitals. Entry to these networks commenced on 1 January 2022 and represents a significant achievement for the Irish Health Service which will drive innovation, training and clinical research for highly specialised care. It is also a very positive development for individuals and families affected with rare diseases.
In order to ensure that the input and the voice of the patient is represented in the ongoing work in relation to Rare Diseases, in 2021 I met with the HSE, NRDO and the Rare Diseases Task force which comprises the main rare disease advocacy groups; Rare Disease Ireland (RDI), the Medical Research Charities Group (MRCP), and the Irish Platform for Patient Organisations, Science and Industry (IPPPOSI). At this meeting priority areas for the future were discussed with a view to building further on the significant progress made to date in implementing the Rare Disease Plan. A number, of priority areas for the coming period were agreed including; patient awareness, European Reference Networks, research and registries, access to services, access to medicines, diagnosis, education, legislation and policy.
The Clinical Genetics service at Children’s Health Ireland (CHI) at Crumlin was founded in 1995 and provides a diagnostic, counselling and clinical genetic testing service for children and adults affected by or at risk of a genetic condition.
The service is the main provider of general genetic counselling to the population of the Republic of Ireland. It cares for and manages families with genetic conditions, rather than simply focusing on individual patients.
Currently there are four Consultant Geneticists in CHI at Crumlin. I am pleased to advise that two vacant posts have been approved by the Consultant Applications Advisory Committee and have been advertised with a closing date of 22nd of July 2022. A locum post is also currently in place.
To support the progression of Genomics and the development of a national genomics network work a single vision for the future of genomics is required. The Department of Genomic Medicine at CHI is in a central position to build on the foundations of the clinical genomics service in CHI at Crumlin to support clinical teams in understanding and managing disease through precision medicine. CHI are progressing the recruitment of a Genomics Medicine Lead (consultant) across CHI who will link and advise on a national strategy.
I fully support the development of a national strategy for Ireland, and I am pleased to advise that Dr Colm Henry, HSE Chief Clinical Officer, has recently set up an international group to review and advise on the national strategy for genomic medicine. This group will be reporting on its outcomes later this year and I look forward to hearing its progress.’
