Pharmaceutical companies here in the UK and around the world are working to –develop new medicines for rare diseases.
What is a rare disease?
How rare is a rare disease and what does that mean for the UK?
What does that mean for Scotland?
What does that mean for Wales?
In the quest to increase understanding of rare disease and improve access to medicines, we are working with charities and research institutions, NICE and the NHS.
We want to tackle the unique challenges associated with rare disease, and improve people access to much needed new medicines into the NHS.
Rare diseases themselves aren’t all that rare. Whilst the definition of a rare disease is one which affects less than 1 in 2,000 people, collectively there are between 6,000 – 8,000 individual rare diseases.
Around 1 in 17 people will be affected by a rare disease at some point in their lives. In the UK, this amounts to about 3.5 million people which is more than the population of Birmingham, Liverpool, Nottingham and Sheffield combined.
We want to raise awareness of rare diseases as first step towards tackling them and improving outcomes for the people and families affected by them.
In the last 20 years we’ve seen huge improvements to diagnosis for rare diseases, but there is more to be done. Genetic testing has a big role to play and the UK Government’s 100K Genomes Project –which in 2019 successfully reached its goal of sequencing the genomes of 100,000 people – is helping us learn more about many conditions.
This data can be used to improve our ability to spot and diagnose rare diseases, giving us a greater chance of understanding the disease but also putting into action treatments that could change someone’s life. However, health professionals may not see that many rare diseases, and they may not know how to refer them for the testing available. Getting more people diagnosed is also a challenge for the NHS, because services are not currently best configured to support the myriad of individual rare conditions that are now being presented.
Companies are working hard to create the medicines of the future for people with rare diseases. In order to get those medicines to patients, they are evaluated by a number of regulators to make sure they are safe, effective and value for money for the NHS.
When working on a medicine for a rare disease, companies are inevitably working with smaller numbers of patients and therefore uncertainty in the evidence, which means that getting a medicine for rare diseases approved can pose a challenge.
When there is a medicine available for a rare disease, we want to make sure that people who need it can get it quickly.
The National Institute of Health and Care Excellence (NICE) is the body which advises the NHS on whether a new medicine is cost effective.
NICE is currently reviewing its methods and processes and is looking at how to address uncertainty in the evidence for a medicine.
The way that that NICE calculates value for money for the NHS hasn’t changed in more than 20 years. These calculations need to be more flexible to reflect the full impact of new medicines on patients, carers, the NHS and society.