Rare Disease Day meeting with ministers & other political representatives

On Feb 23rd 2022, at the invitation of Deputy Pádraig O’Sullivan, we had the opportunity to discuss rare diseases with Minister Stephen Donnelly, Minister Anne Rabbitte and other interested deputies and senators. We attended this event, held in advance of Rare Disease Day 2022, with colleagues from Rare Diseases Ireland, IPPOSI and CF Ireland, along with some industry representatives. Below is the statement made by Dr Avril Kennan, HRCI CEO.

Thank you to Deputy Pádraig O’Sullivan for this important opportunity to mark Rare Disease Day 2022. Thank you also to Ministers Donnelly, Rabbitte and all deputies and senators for your time today. I represent 40 HRCI member charities, all of whom are very patient focused and all of whom hold a belief in research to solve health challenges for their communities. A third of these charities are either rare disease patient organisations or fund some rare disease research. My focus today is on the needs that our members express, in the area of health research.

Supporting research in the health service

As the Covid pandemic has repeatedly driven home to us, research in the clinical setting should not be considered a hobby for those lucky enough to be able to carve out a little time for its undertaking. On the contrary, it should be an integral and central aspect to the delivery of care. Clinical centres that are research-active show better outcomes for patients and save lives. A commitment to research also helps with the recruitment and retention of excellent healthcare professionals. It is very much part of the solution to an improved health service. Research within the clinical setting is particularly important for rare disease patients, for whom expertise is often limited and treatments and cures usually don’t exist.

Embedding genomics research and care

It has been recently demonstrated that whole genome sequencing (reading all of an individual’s genetic code) can help to speed the diagnosis of some babies and children with rare diseases, thereby saving families from going through a very difficult ‘diagnostic odyssey’. Understanding the underlying genetic cause of a disease can also open up a more personalised approach to medicine. Giving the right medicines to the right people at the right time will make the health service more impactful and cost-effective. Using genomic data in healthcare is becoming routine in the UK but remains ad hoc and largely out of reach for people in Ireland. In a welcome step, a National Genetics and Genomics Medicine Network was committed to in the 2020 Programme for Government. Despite this commitment, Ireland has thus far failed to demonstrate national leadership in genomics. Efforts (initiated in Sep 2020) to appoint a Director of the HSE National Genetics and Genomics Medicine Network have not yet borne fruit and this important position remains unfilled. The lack of a person in this post is proving a block to any productive conversations with the Department of Health or the HSE about genetics and genomics.

Through two recent HRCI events, bringing together many diverse stakeholders including patient representatives, we found that people want the Irish Government to play a role in safeguarding their genomic data and in ensuring that it is used in the best interests of patients and the public.

Adopting digital solutions

For many rare disease patients, participating in research offers hope for a better life. Others give their data, samples and time for altruistic processes, in the wish that people in the future won’t have to go through what they did. In doing so, they want to know that their generously given data will be put to good use and that it will also be protected on their behalf.

Investment in electronic health records (EHRs) and the associated eHealth infrastructure, remains a top and unfulfilled priority for our member organisations. As a long-term digital record of a patient’s medical history, across different health services, EHRs contain a wealth of information to support the patient’s care, reduce clinical risk and facilitate the use of valuable data to support research.

On a separate but related topic, one of the best ways to use data to improve care is through patient registries. They should not be confused with, or dismissed in favour of, EHRs. The fact that registries capture information systematically over long periods of time, at a population level and with a view to answering current and future research questions, means that they have a complementary but different role. There are currently no funding streams in Ireland to support the development or maintenance of registries and the expertise required to develop them is limited. There is also no national policy or adequate recognition of their role. The lack of these digital underpinnings reduces Ireland’s attractiveness to international investigators and therefore rare disease patients rarely have the opportunity for early access to new treatments, through clinical trials.

While there is much to address, it is not all bad news. There are a number of developments and initiatives to celebrate:

Ireland’s strong involvement in the ERNs is extremely welcome and, in time, will bring many benefits to people living with rare diseases.
We have a great National Rare Disease Office, showing strong leadership across a range of activities.
My organisation, HRCI, runs a ‘Joint Funding Scheme’ in partnership with the HRB. Through this, our member charities can get matched funding for research projects to address the needs of their communities and it has been particularly beneficial to rare diseases. This scheme is unparalleled internationally and it’s something we should be collectively very proud of. Despite it being a wonderful example of what can be achieved through partnership, it is important to note that it is only open to rare diseases who have patient organisations that can afford to part-fund research projects and have the time to invest in the process.

We are asking you to take steps to build on these positives. My particular requests of you are to:

Do everything you can to support more research within the health service. In all your interactions with the HSE and Department of Health, please ask, ‘what about research?’
Move to ensure leadership in rare diseases AND in genetics & genomics in the Department of Health, in line with the commitments in the Programme for Government.
Act on many prior commitments to implement electronic health records nationally and work with us to think creatively about how we can better support patient registries.

Finally, I urge you to take a look at the HRCI 2022 Position Paper, in order to learn a little more about the current research priorities for rare disease patient organisations and other health research charities. It’s a short, but we hope accessible, document and contains slightly more in-depth information on each of these topics.