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Every month, ERN-EYE invites you to meet an active person within the network through a short interview. This month, it's Avril Daly, CEO of Retina International, who accepted to answer our questions.
Can you present yourself in a few words?
My name is Avril Daly, I’m the CEO of Retina International and I’m also a person living with retinal pigmentosa.
What are currently your most important struggles in the field of rare diseases?
There are many struggles in the area of rare diseases. The recognition of rare diseases as public health priority has been done with respect to the development of national plans and strategies across Europe and that’s very important. But many are not implemented, many of the recommendations within those plans are not implemented in all countries.
We have some very good examples: the Italian and the French in particular is a leading light for other countries who are struggling to implement their recommendations. Knowing that the French are on their third plan, while other countries are on their first plan, I think shows the disparities that there is within the European Union and Europe at large with respect to understanding the needs of patients with rare diseases.
For me, and my role in Retina International, the most particular issue that we're fighting right now is the lack of understanding of the importance of genetic testing for inherited retinal diseases. This is something that probably isn’t well considered, not only from the perspective of governments, from a funding perspective, but as a necessity. It’s often viewed within policy, within the national healthcare systems, with policy makers and legislators as something that’s really just a luxury and that genetic testing for inherited disease in general and in particular for rare eye disease should only be provided when there is a treatment. We, as a patient community, do not believe that’s true because as patient living with these diseases, we understand the difference that a genetic test can bring. The results of which can have a huge impact in families, with individuals, on how they live their lives and the choices that they make day to day.
It is extraordinary now that we know so much about genetic testing and there are so many different types of genetic testing that are leading to really specific and thorough results that show the people who have lived all their life thinking they had one condition discover they have something else and that there could be something for them to do, to take action every day to improve their outcomes, that’s very important. Trying to make policymakers, or enable policymakers, to understand the importance is a little tricky within the community for rare eye diseases because unlike other genetically inherited diseases, rare eye diseases have, within the retina particularly, about 270 genes involved. With other rare diseases, it’s not so complicated because there are smaller amount of genes involved. So we have a lot of complexity within the IRD community when it comes to genetic testing and making the argument, we have a strong argument, because of the complexity of our condition as well. We shouldn’t shy away from it or be afraid of it. When we discuss it, we are still discussing genetics. In all of us within the community and outside of the community as a very novel area, as an area that is emerging, that in some cases still is a little way off in the future. The reality of genetics is here, it’s a necessity in healthcare system in any healthcare system. It’s becoming more and more important in the delivery of care for not only rare diseases but for other conditions like cancers, cardiac diseases because they are being described further and further as rare diseases as well. So we need to change the dialog around how we discuss genetics. It’s not in the future, it is now and it is essential.
In your opinion, what is the most important issue ERN-EYE could overcome?
To my original point about the real challenges that exist within the rare disease community, for rare eye diseases, I still think, it’s my opinion, and certainly my opinion is influenced by the patients that we represent, they would say the lack of access to genetic testing, the disparity in access to genetic testing is a real problem. And that’s a problem that, I believe, patients, clinicians, scientists, policy makers and allied health professionals can really work together to resolve. It’s very important that we work together, that we use the same terminology, the same language, when we are discussing genetic testing, genetic services and clinical genetics as they pertain to ophthalmology and rare eye diseases. So the ERN-EYE provides us with a fantastic platform to discuss these issues that are general in the rare disease community but very important within our community.
The other challenge within the context of genetics and clinical services within the area of rare genetics is the lack of understanding of what a genetic counsellor is, what a genetic counsellor does and the breadth of work they need to undertake to provide diagnosis to the patients. That’s something that is misunderstood when we talk to a policymaker, somebody who is making a decision, with respect to healthcare. They think a counsellor is something that a person with a condition goes and sit in front of for an hour to discuss the challenges. And while that is a part of what genetic counsellors are doing, there is so much more than that. To sit with a diagnostic counsellor when it comes to the delivery of a diagnosis for a genetic disease, it requires time with the patient affected, it requires time with their family, individually or collectively, depending on where the diagnosis has been given. We really need to start looking at how we develop tools in order to be able to emphasize the importance of genetic counselling because from what I’ve heard, and certainly what I witnessed as a patient myself and across Europe, is we have too few and this is really that link point between the patient and the clinician and it’s a really important aspect of all what we do.
What are the main advances of the network?
When we conceived of developing European Reference Networks, maybe 15 years ago, within the patient community and the clinical and scientific community, we worked as a collective in Europe to try to develop ways in which 6 to 8000 rare diseases could find a home and the ERN is the perfect opportunity. It provides opportunities for multi-stakeholders groups to work together to find solutions for complex issues that require consensus. But it also allows groups that within the rare disease community to work with each other and to refer back to different groups that may not be a newer disease best specialty but have an important influence and an important role to play in dealing with the patient with an inherited rare eye disease. Because within the area of rare eye diseases, we also have the syndromic conditions which can be very debilitating and need the expertise of other clinicians in other spaces. So the opportunity to work together within a very structured framework is very important. The European Commission talks about structured collaboration all of the time. The European reference network for rare diseases is the most important manifestation of that. What I think we need to do, as a collective, within the community now, is to really show the benefits and advantages of working together to improve the flow of funding from the European Commission to these groups because the work they are doing is phenomenal and has huge potential for the delivery of health care right across the board and in all areas, not only in Europe but also in other regions. So it’s really a step in the right direction for the future of healthcare.
In your dreams, what would ERN-EYE look like in 10 years?
I think, it probably won’t look much different in so far what you will see is people who are working together for a common goal. Those goals will change in ten years and I hope that what we are talking about as problems now will be solutions then and we will probably be dealing with other problems and other issues that we will work to deal with collectively and successfully. I think the whole concept of networking, centers of expertise would become the norm. I’d like to think that across the different disease areas, there would be a lot more interactions; I’d love to see a situation on a personal level coming from a very small country of the coast of Europe and to see more small countries with their population having access to high technology, interventions and the opportunity, most importantly, for a speedy, accurate diagnosis of their condition so that they could live their best life independently.
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