Rare diseases, by their very nature, are one of the most challenging issues for any health service to deal with.
A rare disease is defined in the EU as a disease or disorder affecting fewer than five in 10,000 of the European population.
Difficult to diagnosis, and often confused with other conditions, rare diseases are also heterogeneous and extremely diverse (there are between 6,000 and 8,000 of them), coming in a manifold range of forms.
So while each individual disease is very rare, a large number of people collectively have rare diseases, even though these greatly vary from one another. This makes planning for them very difficult. Yet a proper strategy is necessary precisely because of the challenges associated with the conditions.
Earlier this month, the Department of Health published the National Rare Disease Plan for Ireland 2014 to 2018. The policy document, which has been well received, was developed by the National Steering Group on Rare Diseases. The Steering Group was established following a EUROPLAN Conference in January 2011, which organized by patients’ representative organizations in Ireland .
Subjects examined by the group were research and information, centers of expertise, patients’ empowerment on orphan drugs and technologies, and communications. The development of the plan was challenging, particularly the lack of data on the majority of rare diseases in Ireland, including specific information on health and disability services for people with rare diseases and capturing and reflecting the views of a diverse and dispersed set of stakeholders.
While the new report states that international and European estimates of rare disease are useful, it cannot be assumed that all estimates apply well to the Irish population. In particular, the National Newborn Screening Programme indicates a higher recorded prevalence of certain rare autosomal recessive disorders in Ireland In addition, findings from national and international rare disease registries indicate a different prevalence in Ireland for a number of rare disorders, including cystic fibrosis and congenital anomaly.
The report has developed 48 main recommendations regarding rare diseases in Ireland. The recommendations cover information and research; prevention diagnosis and care; empowering and protecting patients; and implementation and monoitoring.
In the first category the opening recommendation is for guidelines be developed on coding and recording of rare diseases within relevant Irish health data systems that are consistent at European and global level. HIQA will have a role in this, given its functions regarding information standards, including coding standards.
The Department of Health and the HSE should also put in place over five years a coherent system to conduct broad epidemiological surveillance of rare disease in Ireland.
This epidemiological surveillance should include profiling of rare diseases among high-risk cultural and ethnic minority groups for the purposes of appropriate neonatal screening and improving diagnosis and outcomes, according to the report.
A periodic national report on the epidemiology of rare diseases in Ireland should also be published by the Department of Health, similar to that prepared for the European EUROPLAN report, and that reporting on rare diseases be integrated into the existing HSE reporting on health and disability services.
The report also calls for all existing databases to be mobilised. This would require systems to be put in place to enhance the utility of data held in relevant health service-based information systems, including hospital record, laboratory cytogenetic and molecular genetics data.
Irish data on Orphanet should also be reviewed and a plan for its development agreed, including an assessment of its relocation to an Irish centre if appropriate, while another recommendation calls for appropriate support be given for the ongoing involvement of Irish registries in relevant European collaborations, including the RARECARE and EUROCAT registries.
An All-Ireland Network of Rare Disease Registries, covering the island of Ireland, is also recommended to be developed and that this would work towards enhancing and standardising rare disease registries in line with HIQA draft guidelines, data protection legislation and international best practice, which should be supported by the new National Office for Rare Diseases.
The development of any future information systems provide for a rare disease code in a patient record in order that all people with rare diseases may be easily identified is another recommendation, while the plan also suggests that a rare disease research network should be developed.
Other recommendations in this category cover industry collaboration, legislation and the adherence to European guidelines.
Regarding prevention and diagnosis, the report recommends 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.
It is also recommended the HSE Governance Committee/Group on Newborn Screening within the Integrated Services Directorate be expanded to include a patients’ advocate. Governance arrangements for ‘send out’ genetic tests be strengthened, while the National Clinical Programme for Rare Disease 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 report also recommends that National Centres of Expertise (CoEs) in Ireland be identified for groupings of rare conditions, based on clinical need and built on foundations already established.
It is recommended that the HSE integrate CoEs into national funding planning, with provision for adequate staffing for multidisciplinary care.
Other recommendations in this category concern legislation, orphan medicines and technologies; horizon scanning between pharmaceutical companies and the HSE, and guidelines on prescribing.
The next category of recommendations concerns “empowering, protecting and supporting rare disease patients and carers”.
The Steering Group recommends that the principles of patients’ empowerment be integral to all aspects of this National Rare Disease Plan for Ireland, both now and in the future, in recognition of the fact that patients and their carers require significant clinical and non-clinical support.
It also calls for arrangements be put in place to support the integration of the experience and expertise of rare disease patients’ organisations in the implementation and review of this first national plan.
The final category focuses on implementation and monitoring.
The report recommends an oversight implementation group of relevant stakeholders, including patients’ groups, led by the HSE 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 (KPIs) on a periodic basis in accordance with reporting requirements under the National Service Plan. It should be noted that the European Union has mandated EUCERD’s KPIs and that Ireland will have to report on these.
Finally, the report recommends that there should be an overall review of the National Rare Disease Plan prior to development of the next plan in 2019.