Ms Avril Daly:

I am the chief executive of Fighting Blindness, a patient-led organisation founded on 25 February 32 years ago, funding research and treatment for conditions causing rare forms of sight loss.

I also volunteer as the chair of the Genetic and Rare Disease Organisation, GRDO, the Irish National Alliance for Rare Diseases on the national steering committee developing plans for rare diseases. I am also a person living with a rare form of sight loss. Today I also represent the National Rare Disease Task Force. This voluntary forum was formed in 2011 by patient groups to support their representatives on the steering group. I will present to members the vision and underlying principles of The National Plan for Rare Diseases 2014-2018.

The recognition of the complexities of rare diseases, the provision of information to allow for developments in research leading to improved, efficient and prompt services and better outcomes for patients were critical areas of concern when we commenced our work on the steering group. As we have heard earlier, there are over 6,000 rare diseases that we know of, with more being continuously described. This means there is greater need for a dedicated facility to co-ordinate the information flow, the provision of expertise locally, regionally and internationally through a national co-ordinating centre. This centre or office will be responsible for developing appropriate pathways of care and would undertake epidemiological work, be equipped with the appropriate IT infrastructures and co-ordinated information systems to allow for the development of registers that will enable better planning of services and facilitate the development of research infrastructures.

The research dimension in this field is an area of concern for patients and other stakeholders as funding dedicated to research on rare diseases remains limited. However, the value of fundamental rare disease research cannot be underestimated on moral, scientific and economic arguments. Rare diseases represent a huge burden on the individual, the community and the State, resulting in an unacceptable unmet clinical need for thousands of Irish patients. Scientifically, rare diseases often serve as models for more common diseases and the complexity of rare disease often requires multidisciplinary approaches. Basic, fundamental research is the engine of discovery; it generates new knowledge, drives innovation, and underlies all past and future breakthroughs.

The establishment of the Orphan Drug Acts in both the United States and Europe has generated incentives for the translation of basic research towards product development, and led directly to the growth of the biotech industry as we know it today. Put simply, the medicine of tomorrow depends on sustained investment in basic research today. We are concerned that in an environment where the State prioritises research leading to immediate economic impact we neglect the development of our pipeline for future discovery. This impacts not only the provision of better medical care in the years to come but on our position as leading educators and our place in global innovation.

An area that requires more structure and sustained support is the development of rare disease registries, which are crucial building blocks for sound policy on rare disease. Where well-implemented registries exist, there is better understanding of prevalence, impact and the likelihood of developing a treatment for the rare disease in question is increased.

Furthermore, the collection of patient data creates better standards of care and dramatically improves patient outcomes and life expectancy. The development of an all-Ireland network of rare disease registries covering the island of Ireland should be developed to meet this objective, but it must be resourced correctly. This network will enhance and standardise rare disease registries in line with the Health Information and Quality Authority, HIQA, draft guidelines, data protection legislation and international best practice, facilitating the interoperability and harmonisation between international rare disease patient registries. This function needs to be supported by the new national office for rare diseases.

Such infrastructure will enable more Irish success in European research grants and more involvement with international networks such as E-Rare, and facilitate engagement in the rare diseases aspects of BBMRI-ERIC and the ECRIN-ERIC. Systems must be put in place to enhance the utility of data held in relevant health service-based information systems, including hospital records, laboratory cytogenetic and molecular genetics data.

We believe that the development of any future information systems must provide for a rare disease code in a patient record so that all people with rare diseases may be easily identified. This was singled out as a patient priority in the consultation on the national plan. The development of a rare disease ID card linked to a person’s PPSN should be explored once the provisions of the proposed information Bill have been enacted and promulgated.

With respect to pregnancy, where family members are known to be at risk of being carriers of genes for rare diseases they have appropriate access to pre-conception genetic testing and counselling, which can inform them about the risks involved in becoming pregnant. The Health Service Executive Governance Committee/Group on Newborn Screening within the integrated services directorate needs to consider the population benefits of newborn screening, including whether programmes need to be expanded or modified, and the need for carrier screening. The Department of Health needs to also provide a policy framework for population-based screening programmes.

Patients are currently very concerned about the governance and clinical guidelines for send out tests, which should be audited yearly on the quality and diagnostic yield of tests sent out from non-hospital sources in order to minimise wastage. We are also concerned that Ireland no longer has a national centre for medical genetics.

The national clinical programme for rare diseases, through the soon to be opened national office for rare diseases, must be supported in the development of 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. It is important to remember that some children do not grow out of conditions; they grow with them.

National centres of expertise in Ireland need to be identified for groupings of rare conditions, based on clinical need and built on foundations already established. It is also important that broader clinical guidelines take account of the requirements of rare diseases. The potential for co-operation on an all-Ireland basis must be realised. Centres of expertise must be integrated into national funding planning, with provision for adequate staffing for multidisciplinary care, as well as sustainable research infrastructure for clinical investigation in addition to competitive research.

The role of the designated centre of expertise in Ireland should include research relevant to rare disease, in particular with regard to registries, as already mentioned, health service and translational research. The capacity of Ireland’s five clinical research facilities to engage in rare disease research nationally or in collaboration with international collaborative research must be enhanced.

As a steering group we recommend that guidelines, monitored by HIQA, be developed on coding and recording of rare diseases within relevant Irish health data systems that are consistent with European and global recommendations. The implementation of the Health identifiers Act is urgent, and the forthcoming health information Bill is vital to that.

Centres of expertise should be supported in seeking recognition as EU designated centres of expertise or associated national centres in European reference networks for rare diseases, RDERNs, according to the timeframe, framework and standards currently being developed at European level through the complementary work of the European Union Committee of Experts on Rare Diseases, EUCERD, and the EU cross-border healthcare directive.

Guidelines need to be developed in palliative care provision to address the complex and multi-systemic nature of many rare life-limiting conditions, and account must be taken of the particular needs of children with rare disease in this ongoing programme of work. In order to improve and understand rare diseases among the next generation of medical professionals, appropriate modules relating to rare diseases need to feature within all undergraduate and postgraduate programmes. This could also be addressed through professional bodies with the support of all stakeholder groups, including patients and their families.

We are concerned about the lack of development of strategies concerning the provision of high technology and orphan therapies. The HSE has committed to the development a working group to bring forward appropriate decision criteria for the reimbursement of orphan medicines and technologies, but this has not yet been enacted.

We recommend the preliminary economic evaluation of current activity and costs for orphan medicines and technologies for rare disease patients across all hospitals settings. The approach should include an assessment system similar to that for cancer therapies established under the national cancer control programme and link with the clinical added value of orphan medicinal products, CAVOMP, at European level. Applications for the use of orphan medicines and technologies in hospitals should be dealt with in the context of a national budget, rather than through individual hospital budgets.

An annual report documenting the use of both existing and new-to-market orphan medicines and technologies in Ireland and a summary of applications received and decisions relating to those applications should be made publicly available.

The existing horizon scanning between pharmaceutical companies and the HSE, including clinical value assessment authorities, should be enhanced to improve information available regarding orphan medicines in the pipeline and the future needs for these medicines.

We ask that the HSE applies a set of guidelines on the prescribing of orphan medicines and technologies in Ireland and evaluate clinical outcomes regarding use of orphan medicines. We recommend that early dialogue between the HSE and companies running clinical trials in Ireland with Irish patients where licence approval is imminent. Sponsors could be offered an incentive to run trials in Ireland, increasing access to innovation for Irish patients.

The principles of patients' empowerment are integral to all aspects of the national rare disease plan for Ireland, both now and in the future, in recognition of the fact those patients and their carers require significant clinical and non-clinical support. We are calling for an oversight implementation group of relevant stakeholders, including patients groups, led by the HSE to be established to oversee and monitor implementation of the national rare disease plan's recommendations and associated key outputs. The HSE will report to the Department of Health using key performance indicators on a periodic basis in accordance with reporting requirements under the national plan. The European Union has mandated EUCERD's KPIs and that Ireland must report on these by the end of this year. There needs to be an overall review of the national rare disease plan prior to development of the next plan in 2019.

As patients and representatives of patients, we welcome the recent commitment to the establishment of a NRDO. This will facilitate the coordination and timely access to centres of expertise nationally and internationally, and will provide information regarding new treatments and management options for patients and medical professionals. The information outlined highlights how the office will be a cornerstone in the facilitation of many elements of this plan but it must be sustained and built on into the future.

We remain in a time of economic constraint. We are aware of this, but strongly believe that the name "rare" should not be understood to mean few. Investment in this plan will lead to considerable savings for Exchequer and not just in the long term but today and tomorrow. Patients on the diagnostic Odyssey are as we speak being moved from department to department in hospitals or between hospitals and between counties. They are lying on trollies, helpless and untreated. These are the people who will benefit from the implantation of the published plan.

EU structural and investment funds are instruments used to support economic social and territorial disparities that exist across the Union. They are designed to promote greater cohesion in its regions. They, therefore, form the basis of the EU cohesion policy, providing the investment framework to deliver the Europe 2020 objective of "smart sustainable and inclusive growth". A key area of highlighted in this instrument is "social inclusion". The amount to be invested between 2014 and 2020 is €352 billion, which represents one third of the total EU budget for the next seven years. Each member state is allocated a portion of the global amount. Why could these funds not be considered for a programme of this nature? The focus of this plan is to bring those patients and their families living with rare disease out of the shadows and margins of society by enabling them to become active citizens who will contribute, day by day, hand in hand, to a more inclusive, cohesive and productive society.