Skip to content

You are reading 1 of 2 free-access articles allowed for 30 days

North/South Conference on Rare Disease in Ireland

National rare disease plan requires the ‘necessary funding’ to ensure its success

The national rare disease plan requires the “necessary funding” if it is to succeed, the recent North/South Conference on Rare Disease in Ireland was told.

“We are now entering year three of a four-year ambitious national rare disease plan,” said Ms Avril Daly, Chair, Genetic and Rare Disorders Organisation (GRDO).

Last month’s conference was organised by the Medical Research Charities Group (MRCG), GRDO and IPPOSI (Irish Platform for Patient Organisations, Science and Industry), who together comprise the Rare Disease Taskforce in Ireland, along with the Northern Ireland Rare Disease Partnership.

Ms Daly told the conference: “We are calling on the Government to ensure that it puts the necessary funding and resources required behind its 48 recommendations so that it leaves a lasting legacy in the time frame set out that will make a real difference to people with rare diseases and their families.”

The Department of Health published an Interim Report on the implementation of the National Rare Disease Plan for Ireland — 2014-2018 on the morning of the conference, held in Dublin on Rare Disease Day (28 February).

The national plan was published in July 2014 and provides a policy framework for the diagnosis and treatment of people with rare diseases.  It made 48 recommendations designed to help improve the lives of people affected by rare disease, who number approximately 300,000 in Ireland, according to the Department of Health.

Minister for Health Simon Harris was unable to attend the conference because he had a scheduled Cabinet meeting to attend.

“The membership of both the steering group, which wrote the national plan, and the oversight group, which is overseeing its implementation, was designed to make sure that the patient’s voice is heard,” according to a statement by Minister Harris.

“Implementation of the plan is well underway and we are already into the second half of the implementation period. I want to thank all of the members of the oversight group — and particularly patient representatives — for all of the work that they are doing in this important area.”

Serious concerns over Brexit’s impact on rare disease services

A leading patient advocate has called for the Irish and British governments to “immediately commission” reports on the coming impact of Brexit on patients with rare diseases.

Mr Philip Watt, Chairperson of the Medical Research Charities Group, was speaking at the North/South Conference on Rare Disease in Ireland, which was held in Dublin on 28 February (Rare Disease Day).

Numerous speakers at the North/South conference raised concerns over the impact of Brexit on services for patients with rare diseases.

“But there is, I suppose, one elephant in the room,” Mr Watt told delegates. “And it is something that we intend to raise at a Ministerial level very shortly — it’s the whole issue of Brexit.

“What will be the impact on the health in Ireland, North and South, when the UK leaves the EU? Will those with rare diseases in Ireland be able to access services in the UK and vice versa?”

He continued: “And I suppose if they can, under what circumstances? Will the UK government pick up the tab for health services that are currently funded by the European Union? What will happen to rare disease plans in the UK, including Northern Ireland? Will there be a knock-on effect here in the Republic of Ireland?

“We call on the respective governments in Dublin, Belfast and Westminster to commission urgent joint research to look at the impact of Brexit on health and particularly for those who are most vulnerable — those with rare diseases.” 

Prof Ian Young, Chief Scientific Advisor to the Department of Health in Northern Ireland, told the conference that he hoped the UK’s departure from the EU would not have an impact on all-island services.

Prof Young discussed the Northern Ireland implementation plan for the UK Strategy for Rare Diseases.

He said the Northern Ireland plan “reflects our joint work on the island of Ireland, looking for opportunities for cross-border collaboration on rare diseases.  This is something which I trust will find a way of continuing post-Brexit and building on our current work.”

Prof Young said that work in the North is continuing towards building a patient register for rare diseases.

“That is something [where] we plan on working closely with our partners in the Republic of Ireland. I think there will be opportunities to make this an all-island register of rare diseases,” he told the conference.

NCPE open to change on orphan drug assessment

The Director of the National Centre for Pharmacoeconomics (NCPE) has said he would “be open” to re-looking at the process whereby orphan drugs are assessed for reimbursement.

Prof Michael Barry was speaking at the North/South Conference on Rare Disease in Ireland, held in Dublin on 28 February. The conference was organised by the Medical Research Charities Group (MRCG), the Irish Platform for Patient Organisations, Science and Industry (IPPOSI), the Genetic and Rare Disorders Organisation (GRDO), and the Northern Ireland Rare Disease Partnership.

“Do we need to change the assessment process for orphan drugs?” asked Prof Barry. “The answer is probably ‘yes’. It could be argued that the existing assessment process may disadvantage [orphan] drugs. I’m open to accepting that.”

However, Prof Barry said he was not in favour of a ring-fenced budget for orphan drugs.

Orphan drugs are often expensive to produce and will only benefit small numbers of patients. Many do not meet cost-effectiveness criteria for funding by healthcare providers for general drugs.

In his presentation, Prof Barry was critical of the high price that the pharmaceutical industry puts on some of its drugs.

He said there are limited resources in the healthcare budget.

“I often think when we approve a drug and it’s about €10 million per year, what would we get for that if we invested it in looking after our elderly patients? Or disability? Would we be better putting it into non-drug applications? In many cases, the answer is ‘yes’.

“There is no perfect method here. We would argue that it probably is the best we have at the moment. But we may need to change it.”

As reported in the last edition of the Medical Independent (MI), Prof Barry has called for the introduction of a Rare Disease Technology Review Group in the HSE to form part of the assessment process for rare disease drugs.

“I would envision something like this: The NCPE report would also go to this Rare Disease Technology Review Group that would consist of interested stakeholders, prescribers, patients and patient groups.”

Prof Barry also addressed ‘risk-sharing schemes’ in the production of new drugs.

“You might say, why are we not seeing more of this? The industry don’t like this sort of arrangement,” said Prof Barry.

“They don’t want to be transparent about it. This demands transparency.”

Importance of patient organisations highlighted

The importance of patient organisations was emphasised at the North/South Conference on Rare Disease in Ireland, which was held in Dublin last month.

The conference was organised by the Medical Research Charities Group (MRCG), Genetic and Rare Disorders Organisation (GRDO) and IPPOSI (Irish Platform for Patient Organisations, Science and Industry), who together comprise the Rare Disease Taskforce in Ireland, along with the Northern Ireland Rare Disease Partnership.

“We have to face the question of reimbursement,” said Mr Michael Griffith, former Chief Executive of Fighting Blindness, during his well-received address at the conference.

“Obviously, the real problem is in finding the treatment. But once we have found the treatment, the next real problem is trying to reimburse the treatment. 

“Obviously, if a drug is not going to be effective, then there is no point pushing too strongly for it. But if a drug is effective, even marginally, I think we simply should not take ‘no’ for an answer.”

Mr Griffith said he understood that there was a wider economic context. However, he said patients and patient organisations must continue to campaign.

“I can certainly understand the arguments that are put forward in regards to limited budget and the trade-offs in terms of purchasing one drug as opposed to providing shorter waiting lists or something like that,” said Mr Griffith.

“But ultimately, if you are a patient and you sit down under that argument, you are never going to get any drug. We as patients have to fight for what we feel can help us, provided we are satisfied that it is safe and reasonably effective. Ultimately, it is a social issue — the whole of society has to put a value on health. It’s a difficult problem because in reality, there are choices to be made. 

“But I think in the general population, there is support for patients who are suffering from specific conditions and where there are drugs available that can be effective, I think there would be general support for that.”

Funding to enable services needed for National Rare Diseases Office

Funding for services for those with rare diseases needs to be increased, various speakers told a recent conference in Dublin held on Rare Disease Day, 28 February.

Speakers at the North/South Conference on Rare Disease in Ireland praised the establishment and work of the National Rare Diseases Office and the National Clinical Programme for Rare Diseases. However, the need for more funding despite these developments was emphasised at the conference.

“One of the key messages of today is to call on the Irish Government to bring greater resources to these two vital initiatives,” said Mr Philip Watt, Chairperson of the Medical Research Charities Group (MRCG).

“We cannot gloss over the major challenges facing us. The first is access to drugs. There is a debate around access to and the cost of innovative drugs. The second major challenge is support for genetic services in Ireland. Clinical genetic services are vital for the diagnostic and treatment of rare diseases.”

It is estimated that there are over 6,000 rare diseases in existence worldwide, affecting 6-to-8 per cent of the population of Ireland.

Organisers of the conference said that many rare diseases appear in childhood and it has been estimated that 30 per cent of children with rare diseases will die before reaching their fifth birthday.

The conference was organised by the MRCG, the Irish Platform for Patient Organisations, Science and Industry (IPPOSI), the Genetic and Rare Disorders Organisation (GRDO), and the Northern Ireland Rare Disease Partnership.

The National Rare Diseases Office was established over 18 months ago to address areas such as rare disease information, care pathways and patient registries. Its work is currently led by the National Clinical Lead for Rare Diseases Prof Eileen Treacy, supported by an information scientist, part-time administrative officer, part-time genetic counsellor and by a 0.2 full-time equivalent consultant geneticist.

According to an interim report published last month by the Department of Health on implementation of the national rare disease plan, the office’s specific functions include providing up-to-date information regarding new treatment and management options, including clinical trials. The post of information scientist for the office is being funded jointly by the HSE and the EU Commission.

“The NRDO [National Office for Rare Diseases] has already performed a preliminary situation analysis of the existing rare disease registries and is in the process of assigning these known registries on our national Orphanet site, which is the international rare disease reference and information portal funded by the EU,” stated the Department’s report.

Need for ‘conversation’ on reimbursement process

There is a need for a “healthy conversation” on medication costs and the decision process around reimbursement, Consultant Respiratory Physician Prof Gerry McElvaney told the recent North/South Conference on Rare Disease in Ireland.

In his presentation, Prof McElvaney raised concerns about decisions made by the HSE not to reimburse drugs such as Orkambi and Respreeza.

“If it [a drug] works, then everything is about cost,” said Prof McElvaney during the questions and answers session following his presentation.

“That’s the question and that is a very healthy conversation to have in Ireland, as a country, as patient groups, as a governing agency, as a pharmaceutical (industry). Can we reduce the costs?

“I think over the next 10 years we are going to see more and more of this, regarding cost. And we are going to have to address this and be honest with ourselves about it.”

Prof McElvaney said there is a need to review how innovative new therapies are assessed for reimbursement in Ireland.

Leave a Comment

You must be logged in to post a comment.

Scroll To Top