According to Rare Diseases UK, a rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population[1]. There are between 6,000 and 8,000 known rare diseases and around five new rare diseases are described in medical literature every week.[2]
1 in 17 people, almost 6% of the population, will be affected by a rare disease at some point in their lives.[3] This equates to approximately 3 million people in the UK[4] and 30 million people across Europe.[5]
The impact of living with a rare disease should not be underestimated, both for patients and their families but also wider society. Those with chronic symptoms may have to endure treatment regimens that significantly impact quality-of-life. This could mean spending many hours in hospital, missing school, social events and work. Others may have limited options for treatment and face reduced life expectancy. This can result in significant impact on partners, families and carers and a knock-on impact for society in terms of lost productivity and impact on the health system and resources.
This is the impetus behind the UK’s Rare Disease Strategy launched in November 2013 which was the first time all four health departments of the UK came together to recognise and respond to the needs of all those affected by rare disease. The strategy outlined the need for a clear, personal care plan for every patient, that brings together health care services and aims to support patients, their families and carers in providing the information they need. Much progress has been made, but sadly many still do not receive the support and care that they need.
For those of us working in the biotech industry, finding better ways to treat and aspirationally cure rare diseases is our guiding mantra. Backed by more than 30 years of science, punctuated by multiple set- backs along the way, gene therapy is one example of a technological breakthrough which we believe may hold significant promise for people with rare genetic diseases and provide fresh hope where limited treatment options exist today.
But what is gene therapy and how does it work? Put simply, gene therapy involves introducing genetic material into a person’s stem cells to address the cause of a disease. There are several ways to do this including editing the mutated gene that has caused the disease, ‘switching off’ a mutated gene that doesn’t work correctly or adding healthy functional copies of the gene.
Gene editing has been talked about a lot in the media of late and much progress has been made, but gene addition is possibly less well understood. This is where working copies of a gene are added to address the underlying genetic cause of a condition. Administered as a potential ‘one-time’ treatment, the therapy is developed outside the body, using the patient’s own stem cells.
There is little doubt that the first gene therapies for rare diseases will be transformational when they eventually get to market, but it is important to realise that they won’t just break new ground for medicine – they will require health and reimbursement systems to plan earlier and adopt new ways of assessing value.
Current reimbursement models are designed for chronic treatments where costs are incurred as benefit is realised. We have to question if this model continues to make sense if you are talking about a one-off treatment, as may be the case for gene therapy. A new mindset will be required involving greater collaboration between NHS England, NICE, and the wider industry, to work together to find appropriate solutions. This approach will need to take into account the specific nature of rare disease in terms of evidence base, unmet need and cost.
Having worked with the ABPI for many years, I believe strongly in having a joint industry voice and believe we have a great opportunity for the industry to join together to share insights, tackle joint challenges and where appropriate partner on initiatives. Supporting the introduction of gene therapy will be no exception.
Although it is still early days for UK patients to access gene therapies, I’m excited about how far the industry has come. We are on the brink of a new dawn in the way that rare genetic diseases could be treated which has important implications for society as a whole.
Nicola Redfern became the general manager of bluebird bio UK in 2019. She joined bluebird bio in 2017 as UK Director of Access, Value and Evidence Strategy and has 30 years of experience in the UK pharmaceutical industry.
[1] https://www.raredisease.org.uk/what-is-a-rare-disease/
[2] https://www.raredisease.org.uk/what-is-a-rare-disease/
[3] https://www.raredisease.org.uk/what-is-a-rare-disease/
[4] https://www.gov.uk/government/publications/uk-strategy-for-rare-diseases-2019-update-to-the-implementation-plan-for-england
[5] https://www.raredisease.org.uk/what-is-a-rare-disease/
Although it is still early days for UK patients to access gene therapies, I’m excited about how far the industry has come. We are on the brink of a new dawn in the way that rare genetic diseases could be treated which has important implications for society as a whole.
Nicola Redfern, General Manager at bluebird bio UK