Beacon of hope for rare disease patients

Beacon of hope for rare disease patients

July 17, 2014 by Dara Gantly Leave a Comment

At the launch of the National Rare Disease Plan for Ireland was former Health Minister Dr James Reilly, TD; with Eibhlin Mulroe, CEO, IPPOSI; Avril Daly, CEO, Fighting Blindness; and rare disease patient Jamie O’Reilly

Dara Gantly examines what the long-awaited National Rare Disease Plan promises for the estimated 270,000 to 380,000 people in Ireland with a rare condition, who are often denied diagnosis, treatment and the benefits of research.

After months of being “very close” to seeing the new National Rare Disease Plan for Ireland 2014-2018 published, then Minister for Health Dr James Reilly finally launched the report on July 3 at the RCPI. In short, it promises to enhance access to orphan drugs and technologies, respond to the needs of patients and their carers, and address research gaps.

Minister Reilly believed the significance of the plan could not be overstated because it provided a roadmap — one very much based on an EU template — for the prevention, diagnosis and treatment of rare diseases.

The key recommendations of the Rare Disease Plan include the creation of both a Clinical Care Programme and a National Office for Rare Diseases. A designated Clinical Care Programme will improve specialist services and allow for the development of a joined-up model of care for patients, said the Minister.

“Meanwhile, the principal functions proposed for the National Rare Diseases Office include the identification of Centres of Expertise (CoEs) for various rare diseases, providing a helpline function for patients and families, and the surveillance of national rare diseases,” he added.

These CoEs will provide expert care for rare disease patients, bringing together and co-ordinating multi-disciplinary competencies and skills in order to service the specific medical, rehabilitation and palliative needs of rare diseases patients.

The centres will also provide education and training to healthcare professionals from all disciplines and provide accessible information adapted to the specific needs of patients and their families and of health and social professionals in collaboration with patient organisations.

The next step
All agree now that the next step is for the document to be incorporated into the HSE service plan for 2015. Welcoming the document, Philip Watt, Chairman of the Rare Disease Taskforce — which is made up of leading patient groups in Ireland in this area — said it offered a “beacon of hope” for the thousands of people in Ireland who are born with or who acquire a rare disease.

Rare diseases are those conditions that affect fewer than five people in 10,000, but there are so many kinds of rare diseases (between 6,000 and 7,000 identified to date) that having a rare disease is not in itself rare. It is estimated that between 6 and 8 per cent of the European population will have a rare disease in their lifetime, which equates to between 270,000 and 380,000 people in Ireland — although the precise number here with a rare disease is unknown.

Thus, among the first recommendations of the plan are moves to produce guidelines on coding and recording of rare diseases within relevant Irish health data systems that are consistent at European and global level. It is envisaged that HIQA will have a role to play in this, given its functions regarding information standards.

The plan also pledges that the Department of Health and HSE will put in place, over the five years of the strategy, a coherent system to conduct broad epidemiological surveillance of rare disease. 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.

Newborn screeningThe plan suggested that the HSE Governance Committee/Group on Newborn Screening within the Integrated Services Directorate be expanded to include a patients’ advocate. The Committee should 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 should provide a policy framework for population-based screening programmes.

Hawkins House should also consider addressing the need for a review of legislation that indirectly impinges on the Newborn Bloodspot Screening Programme.

Rare disease patients are sometimes described as the ‘orphans’ of the health systems, often denied diagnosis, treatment and the benefits of research. But the new plan wants to put this right.

Since about 80 per cent of rare diseases are genetic in origin, effective genetic services have a vital role to play in relation to diagnosis. But the plan accepts there are challenges here.

The National Centre for Medical Genetics (NCMG) at Our Lady’s Children’s Hospital, Crumlin, provides diagnosis and genetic counselling for all genetic rare diseases referred to it. The Centre processes approximately 13,000 cytogenetic and molecular genetic tests each year and tests for 19 specific gene defects. When a genetic test is not available from a laboratory in Ireland but is clinically indicated, DNA samples are sent to specialised laboratories abroad (with 740 ‘send out’ tests listed in the NCMG database).

The Rare Disease Plan acknowledges that considerable staffing and funding challenges have occurred in recent years. A report submitted in late 2012 to the Clinical Leads in Paediatrics indicated a waiting time of 12-24 months for referral to the NCMG. Long waiting times also impact on, for example, immediate access for linked programmes such as the National Centre for Inherited Metabolic Disorders (NCIMD). It is important that genetic counselling also be offered to and provided for those individuals and families that require it and would benefit by it, the national plan adds.

Staff shortagesHowever, as mentioned, although the NCMG aims to promote services in a clinically appropriate manner, a considerable challenge persists in terms of under-resourcing of clinical staff, the report adds. The Royal College of Physicians UK recommends a minimum of three consultant geneticists per million population and the Association of Genetic Nurse and Counsellors UK (AGNC) recommends one full-time genetic counsellor per 100,000 population. Applying these ratios to the Irish (RoI) population would imply a total of 14 WTE consultants and 46 genetic counsellors (NCMG, 2010).

The Northern Ireland Genetics Service has 6.5 WTE consultants, one trainee registrar, 6.5 WTE genetic counsellors and one WTE family history nurse for a population one-third the size of the Republic.

“Ireland has the lowest population ratio of genetics staff of 10 European countries studied (see here),” the report notes. Indeed, as of October 2013, Ireland had one clinical consultant per 1,150,000 of its population.

Waiting times are also an issue for patients seeking expertise once diagnosed. Responses from a consultation exercise carried out suggested that between one-in-four and one-in-five of rare disease patients waits over a year for assessment by an appropriate rare disease specialist. Respondents felt that an appointment with a specialist should follow within three months of referral by a GP.

Residential respite care should also be made available for children with rare diseases, the plan also recommends, including in-patient hospice beds and hospice-at-home teams.

Orphan drugsIn terms of access to drugs, the HSE is to develop a Working Group to bring forward appropriate decision criteria for the reimbursement of orphan medicines and technologies. The approach should include an assessment system similar to that for cancer therapies established under the National Cancer Control Programme and link with the CAVOMP at European level.

At present, orphan drugs and technologies are assessed through the same mechanism as all other drugs and technologies. In 2012, industry and the State agreed that they would accept a cost-effectiveness threshold of €45,000 per quality-adjusted life-year in the health technology assessment process. It was also agreed that ‘exceptional’ products that failed to satisfy the €45,000 threshold could be processed subject to meaningful discussions between the HSE, Department of Health, relevant clinicians and the relevant marketing authorisation holder.

Health technology assessments are commissioned and carried out by the National Centre for Pharmacoeconomics (NCPE) and the Centre facilitates meaningful discussions through IPPOSI — the Irish Platform for Patients’ Organisations Science & Industry — with patients’ representatives where the relevant orphan medicinal products under review are viewed ‘exceptional’.

The rare disease plan says it is possible to argue that having the same system for assessment ensures decisions around pricing and reimbursement of orphan medicines are not made without first considering the potential for non-provision of other services to patients with rare diseases or services to other patients.

However, it is also possible to argue that assessing orphan medicines in the same way as other medicines may disadvantage them.

“It is argued by some stakeholders that the price of an orphan drug is set by a manufacturer to recoup research and development costs and attain a profit margin,” the document states. Thus, the plan believes the assessment and reimbursement process of orphan drugs may need to be tailored to the specific issues surrounding rare diseases.

The HSE will thus undertake a preliminary economic evaluation of current activity and costs for orphan medicine and technologies for rare disease patients across all hospital settings. It also wants applications for the use of orphan medicines and technologies in hospitals to be dealt with in the context of a national budget, rather than through individual hospital budgets.

EU linksMuch of the impetus for these changes has come from Europe. In 2008, the EU Commission adopted a Communication on Rare Diseases, followed in 2009 by a Council Recommendation. Both seek to improve recognition and visibility of rare diseases and develop European cooperation, coordination and regulation for rare diseases.

The recommendation called upon Member States to adopt national plans or strategies for rare diseases by the end of 2013 in order to ensure universal access to high-quality care for all patients.

Technical assistance and training tools to help EU countries create these national plans has been developed thanks to the EUROPLAN Project and Joint Action co-financed by the Commission’s Health Programme.

In his foreword in the plan, Minister Reilly reiterated that the policy framework envisaged a combined approach within the EU to diagnose and treat people with rare diseases. “We must deepen links with facilities and institutions in other countries where specialist services are available that may be absent in Ireland,” he noted.

Gathering expertise at European level is paramount in order to ensure “equal access to accurate information, appropriate and timely diagnosis and high-quality care for rare disease patients”, the plan goes on to note.

The National Clinical Programme for Rare Disease through the National Office for Rare Diseases will 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.

While healthcare pathways may be well defined in Ireland for some rare disorders (e.g. hereditary coagulation disorders), through well established CoEs, for many conditions and for ultra-rare disorders, the plan accepts that there may not be sufficient local expertise in Ireland. “For such situations, the development and use of European Reference Networks (ERNs) is particularly relevant,” it notes.

At EU level, the Directive on Patients’ Rights in Cross-Border Healthcare will also influence the implementation of Ireland’s National Rare Disease Plan in coming years, the document states.

Funding issuesAs with any plan published in recent years, the economic realities of 21st-Century Ireland will have an impact on the implementation of the rare disease strategy. In this regard, the rare disease plan pledges that the present budgetary environment shall be “explored” to “identify and exploit” all opportunities for progressing this national plan as the future platform to address the care and treatment of people with rare diseases.

“The service planning mechanism provides an accountability framework with respect to the delivery of health services. Rare disease management programmes should be specified within the HSE Service Plan mechanism,” it states.

And looking further forward, there will be an overall review of the National Rare Disease Plan prior to development of the next plan in 2019. Forward thinking indeed on an area of care that too often in the past was not given a second thought.