The way in which we can diagnose and treat rare diseases in the 21st century is one of the remarkable success stories of modern healthcare. Clinical leaders, the patient community, health systems, researchers and the life- sciences industry have worked together in ways which have driven previously unthinkable results. We have been able to classify, research and provide treatments for many rare conditions, often affecting the youngest and most vulnerable in society. For example, in recent years the UK has seen real advances in the health outcomes of those suffering from cystic fibrosis and spinal muscular atrophy.
Yet, although breakthroughs have been made in many areas, we still have so much work to do. Amazingly, 95 per cent of identified rare diseases have no treatments available to those who are affected by them.
As ever, there’s an important caveat about the concept of rare diseases. When we use that term, we are talking about a huge group of individuals in the UK, perhaps 3.5 million. When you add the families and communities so often also affected by these conditions, we are talking about many millions more.
There is a clear chance for the UK to take a strong and credible global leadership position in the field of personalised medicines and rare disease. Doing so would benefit patients and their communities. It would also demonstrate to the world that the UK can be the life-sciences hub it aspires to be, supporting the new government’s mission to deliver much-needed growth. But to do so, we must connect a complex series of dots.
In the UK, successive governments have driven agendas to delve deeper into the science of human genetics and the genome. The previous government was clear in its aim for the UK to be “the most advanced genomic healthcare system in the world”. As one of the consequences of that objective, Genomics England is running the Generation Study, which aims to sequence the genomes of 100,000 newborn babies. This takes advantage of important aspects of our existing research environment and its connections to the NHS. There are many other ambitious partnerships pulling in the same direction, such as Our Future Health. These grand projects are going to be critical when it comes to finding solutions in rare diseases, where 80 per cent of conditions are genetic in origin.
This ambition is inspiring and plays upon the UK’s strengths in science and healthcare. As a global biotech company, we are encouraged to see that the UK is one of the world’s leaders in this area. This is a credible story, up to a point.
However, we can also see a developing disconnect across our systems of innovation and healthcare that we must work together to solve.
As we understand the genetic causes of diseases better, medicines can be developed which address the specific patient populations most likely to benefit. This can also avoid exposing patients who are unlikely to benefit to side effects. We believe that this represents progress, as we move further away from the less targeted approach of old.
But these new medicines often come with a significant cost per patient, limited data, and high levels of uncertainty due to the sometimes hard-to-reach nature of the patient population in question. This is particularly the case for first-in-class medicines, which represent scientific breakthroughs, and which may deliver incremental clinical benefits.
It is apparent that the way England assesses these medicines for use on the NHS, via an appraisal by the National Institute for Health and Care Excellence (NICE), is not moving as fast as the science. The evidence is building. Across the UK we lag behind comparable European countries in making these medicines available to patients. Recent figures published by the European Federation of Pharmaceutical Industries and Associations (EFPIA) highlight that those non-oncology orphan medicines receiving reimbursement took 433 days on average to be available on the NHS in England. This compares to 367 days in Scotland and 107 days in Germany.
A 2023 survey of member companies of the Association of the British Pharmaceutical Industry (ABPI) and the BioIndustry Association (BIA) showed that out of 64 medicines granted marketing authorisation since 2018, fewer than half were reimbursed and available to patients in the UK. Eleven out of 18 companies reported that they expect less than 75 per cent of their rare-disease medicines will be launched in the UK over the next five years.
The pattern appears to be that an increasing number of these medicines are being delayed or not getting into the hands of physicians, where they are needed most. So, we have a problem to solve. The UK’s end-to-end story does not hold up without this final, most important part of the chain – patients and their communities who are missing out on treatments. Clinicians are losing the experience of working with new innovations. The UK’s offer as a life-science powerhouse is critically undermined. We need to think broadly to find a solution that will benefit all the stakeholders. The advent of a new government, with a forthcoming ten-year plan for the NHS and a proposed NHS innovation and adoption strategy, gives all parties the chance to look again. It would be too bold to say that any one group had all the answers. But there are important questions: does it always make sense to rely upon the rigid cost-effectiveness model of NICE when assessing more personalised medicines for rarer diseases? What could we learn from other European countries where these medicines are often made available more quickly? Could we consider other factors in making the decision, such as the innovation of the medicine and the total amount the NHS spends on it?
The UK has a compelling offer in terms of generating cutting-edge science in rare diseases. However, we must be frank about current failings and work together to find a solution, to the benefit of all. Biogen has provided funding support for this activity.
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