In this exclusive sneak peek feature, we speak with Alastair Kent ahead of his presentation at the inaugural Real-World Evidence 2020: Rare Diseases and Innovative Therapies meeting. Discover his insight and register to attend RWE 2020 now!
Please could you introduce yourself?
For approximately 25 years I was the Executive Director of Genetic Alliance UK (London, UK), which is the UK umbrella group for patient support organizations, supporting families with rare and genetic disorders. In that capacity, I worked on science and health policy, and service development and delivery issues for patients affected by rare conditions.
We have seen huge change in both scientific and clinical possibility over the last 25 years, and genetics has become an increasingly important area of healthcare. Individuals with rare diseases have also been recognized as an extremely under-served sector of population. Until relatively recently, ‘rare’ was synonymous with ‘not many affected, so not much could be done’, and therefore ‘probably not very important’. However, by bringing together families with rare diseases, we have realized that they represent a huge health issue, not just for those affected, but for the health service as a whole. Building that critical mass of affected individuals has both enabled research and facilitated the development of services.
Until relatively recently, ‘rare’ was synonymous with ‘not many affected, so not much could be done’, and therefore ‘probably not very important’.”
Since retiring from my role at Genetic Alliance UK, I have continued to work as an independent consultant, to promote issues and awareness around rare and genetic diseases. I have also worked with a number of organizations including the European Commission, the International Rare Disease Research Consortium (Paris, France) and the Global alliance for Genomics and Health (Ontario, Canada). I currently Chair the Rare Diseases Advisory Group for NHS England, as well as the UK Rare Disease Policy Group for the Department of Health and Social Care (both London, UK). However, I stress that my participation in this event is solely within my personal capacity, not as a representative of any of the bodies I have, or currently, work for.
What is the importance of patient engagement in health policy decision making in the field of rare and genetic diseases?
I think the essential point of engaging with patients and their families is that you get to understand the importance, and the impact, of a rare disease on those who are actually affected by it. This enables you to look for what is important to those individuals, as opposed to only what can be quantitatively measured or counted. You can build the critical mass necessary to understand these conditions; rare diseases, by definition, only affect small numbers of people individually, though when you take them together, many millions are affected. To investigate and study these diseases, and hopefully ultimately develop disease-modifying therapies for them, we need to be able to engage with patients and their families where they are, getting them to share their experiences, priorities and insight with you, whether you are an academic, clinician, researcher or work in industry.
I think the essential point of engaging with patients and their families is that you get to understand the importance, and the impact, of a rare disease on those who are actually affected by it.”
Patient engagement can also be important, in the longer run, for persuading those who evaluate interventions and consider whether novel therapies should be made available. Without these individuals understanding the burden of a disease and its impact on patients’ and their families’ lives, they may struggle to get the breadth and depth of insight into a particular condition that will enable the planning of an effective research and development strategy, move understanding forward, and effectively create, martial and deploy resources to provide a timely, user-friendly pattern of interventions that are reflective of current scientific understanding and best clinical practice.
What are some of the challenges associated with accurate and representative patient engagement?
A big challenge is the fact that we are simply dealing with very small numbers of individuals, who tend to be very dispersed. Some of the conditions seen in patient support groups for affected families have been identified is less than 20 individuals across the whole of the UK. These are conditions that most people will never have heard of — the sorts of diseases that have the names of more middle-European doctors in their titles than there are affected individuals.
By bringing individuals together, particularly making use of virtual technologies and social media, not only patients themselves, but clinicians and scientists, have been increasingly able to link up and build better pictures of rare disease.”
Getting these people together to realize what the commonalities of their conditions are — for many of these we don’t know what the natural history of the disease is yet — is a challenge itself, though is essential. We are getting better at understanding this; the development of large-scale research programs, such as the 100,000 genome project, has facilitated this, however, until the necessary systematic investment in infrastructure is put in place, how are we to link up patient A in one geographical region with patient B in another entirely different region and realize that they have the same condition. The clinician treating each of these patients is likely not to have experienced a family with the condition before; to expect them to be able to identify the condition and implement an appropriate treatment program, is a tall order.
By bringing individuals together, particularly making use of virtual technologies and social media, not only patients themselves, but clinicians and scientists, have been increasingly able to link up and build better pictures of rare disease.
Without giving too much away, what do you hope to be the main takeaways from your talk at RWE 2020: Rare Diseases and Innovative Therapies?
The nature of the meeting is about real-world evidence as it applies to rare diseases. Traditionally, clinical research has had the randomized-controlled, double-blinded trail as its gold standard. However, if you are dealing with a condition that only affects tiny numbers of patients and families, you are likely not to be able to conduct such a trial. We need to find new ways of developing insights and knowledge that are robust, stack up to investigation, are feasible within the field, and help to contribute to the understanding of safety, efficacy and quality measures. This will mean that when disease-modifying therapies arise, regulatory agencies can look at them with appropriate tools and come to conclusions about whether the intervention does what it promises, and whether this is necessary and worthwhile of investment.
In my talk, I will discuss the importance of identifying innovative ways of collecting evidence reflective of the real burden of a rare disease on patients and their families — in other words, their real-world experiences…”
In my talk, I will discuss the importance of identifying innovative ways of collecting evidence reflective of the real burden of a rare disease on patients and their families — in other words, their real-world experiences — and of developing techniques that will enable that evidence to be evaluated promptly, properly and professionally, for the benefit of patients.
It comes down to the fact that you cannot apply traditional methods to the study of rare diseases and innovative therapies because you simply lack the numbers; you would set the bar so high, if you insisted on implementing traditional methods and standards, that you would never be able to satisfy regulators. That would simply be unethical and unfair in a healthcare system that is driven by the notion of solidarity.
Why are events like RWE 2020: Rare Diseases and Innovative Therapies important for progressing the field?
I think this event is important because we will be convening an audience with diverse field backgrounds — including regulators, industry members, researchers, pharmaceutical companies, patient advocates etc. — and providing them with different perspectives on addressing a shared problem. All of these stakeholders will be brought together so that they can realize where their insights overlaps, where the gaps in their knowledge may be, how we may make realistic progress in the field and, importantly, why we have these different perspectives in the first place.