How does government, NHS and industry balance competing priorities to ensure that rare disease patients are not left behind in the push for ever more innovative therapies?

“I just wanted to be a normal kid. But it was impossible, I had to stop going to school, only leaving the house to go to hospital. I just wanted to be normal.” These are the powerful words of 20-year-old Sabam Jamil when she addressed the captivated audience at a recent Public Policy Projects meeting.

Sabam recounted her experience living with an extremely rare form of kidney disease that, by the age of 13, had significantly impacted her life. With regular hospital visits, Sabam was reliant on the acute sector delivering the care she needed. Unfortunately, as is the case with many rare disease (RD) patients, regular interaction with the acute sector is not always suited to address the complicated needs and challenges posed by a rare disease.

A rare disease simply means a single disease that affects a small population, less fewer than one in 2,000 to be precise. As such, the rare disease community is vast, currently encompassing three million people across the UK. To address the needs of the RD community, the UK needs to take a multifaceted approach. Fortunately, the UK already has a strong foundation of clinical excellence, a vibrant life sciences sector and a world leading research base from which it can further its national RD strategy.

Maintaining government support

“This is a fast moving sector. We must keep our finger on the pulse in terms of genomics and research into ever more sophisticated treatments,” said Dr Jenny Harries, Deputy Chief Medical Officer for the Department of Health and Social Care.

Suffering from a rare disease herself, Baroness Blackwood has long been a champion for the RD community, constantly emphasising the need for a national conversation on rare diseases. Dr Harries was keen to reaffirm the Department’s “absolute commitment” to this issue. The gathered view of the entire rare disease community, including patients, clinicians, GPs and industry, is that we need a national conversation on rare diseases,” she commented.

“The gathered view of the entire rare disease community, including patients, clinicians, GPs and industry, is that we need a national conversation on rare diseases.”

Dr Jenny Harries, Deputy Chief Medical Officer, Department of Health and Social Care.

This “national conversation” will need to originate from the upper echelons of the Department of Health and Social Care. Dr Harries cited government acceptance of all 51 aims of the 2013 UK Strategy for Rare Disease as a clear indicator of deep-rooted government support. Such acceptance, Dr Harries said, demonstrates a long-term vision for managing rare diseases and is the first of its kind. More recently, the Department of Health and Social Care published a survey in October to gather the needs of the RD community. Three-thousand responses were recorded within a week.

Harnessing power for research in the UK

The UK boasts some of the strongest clinical research bases of anywhere in the world, with progress showing no signs of slowing. The 100,000 Genomes Project, combining genomic sequencing data with medical research, has created a ground-breaking resource for researching rare diseases. The project facilitated the 2018 NHS and Genomic Medicine Service, making the UK the first nation to link genomic technology directly into rethinking care. Furthermore, the Secretary of State for Health and Social Care, the Rt. Hon Matt Hancock MP, announced in early 2019 that the Government will make a significant investment to create a five-million-strong volunteer cohort using the latest artificial intelligence (AI) to accelerate research, building on the great strides being made in genomic medicine.

The faster that our progressive understanding of this technology can be established, the faster the pace of patient improvement can become a reality. However, while we should encourage the development of new medicines, these products will not be optimised if the system that delivers access to patients remains unchanged. “It is critical that our research develops in line with the opportunities presented to real patients,” said Dr Harris, who was keen to stress that alongside ground-breaking innovation, the patient will never be left behind.

Harnessing the vibrancy of UK life sciences

The Government has made great progress in improving the environment for life sciences in the UK. Ensuring that the RD community benefit from this environment is of paramount importance. Examples of this work can be seen throughout the Life Sciences Industrial Strategy, Twelve Actions to Improve Clinical Research and the Health Data Research UK Programme.

However, the UK can always do more to help the RD community. Angela McFarlane, Market Development Director at IQVIA, also spoke at the conference and was keen to illustrate that the RD environment in the UK should continue to benefit from this energy and focus. Angela went as far as to suggest, in respect of the Rare Disease Implementation Programme, that the pace of innovation in the UK has lacked ambition.

Despite this reflection, Angela believes we are on the cusp of a transformational decade in the UK. “The uniquely rich health data, genomic ecosystem and collaboration-based working facilities have encouraged some excellent examples of innovation in the rare disease space,” she added.

“Uniquely rich health data, genomic ecosystem and collaboration-based working facilities have encouraged some excellent examples of innovation in the rare disease space.”

Angela McFarlane, Market Development Director at IQVIA.

Angela pressed upon delegates how the global pharmaceutical and biotech landscape has undergone a seismic shift over the last two decades. Twenty years ago, 80 per cent of new medicines developed were in primary care disease areas, such as diabetes and asthma, with an addressable patient population in the hundreds of millions. However, since 2011, 80 per cent of new medicines launched have been in specialty care, such as cystic fibrosis or Hepatitis C, or rare disease areas with patient populations in the hundreds or possibly thousands.

IQVIA is one of a selection of companies that have been looking to use this new environment to develop new treatments and medicines for the RD community. The core fields of innovation are diagnosis and development of personalised medicines, application of artificial intelligence to improve diagnostics, and the application of the genomics revolution to improve treatment and outcomes. Although optimistic, Angela was keen to stress that reforms must be bold, “both for rare disease and for the orphan medicine research and development agenda”.

Role of regulation

If UK life sciences are to exist in a world where new medicines increasingly focus on rare conditions, the volume of medicines available will not necessarily justify the cost of demand according to the current regulatory structure. The regulatory structure needs to be reimagined to accommodate ever more specialised medicines that will be required to deliver more efficient patient access.

Gareth Morgan, Partner at CMS, provided his own insights into the regulatory framework surrounding much of the innovation discussed at the session. “The industry simply doesn’t have the resources to generate the sort of data that the new legislation requires to keep devices on the market.” While not wishing to be negative, Gareth stated that there is a crisis forming, insisting that “where devices are going to fall off the marketplace, device legislation and regulation needs to be looked at very closely.”

Not forgetting the patient

While there is a sense of excitement surrounding scientific and commercial opportunities in the life sciences, integrated care and research sectors, patient stories like that of Sabam must not be forgotten. Rare disease patients must become much more than just “guinea pigs” in research. As Angela McFarlane said in the closing remarks of her address, “our collective actions [government, industry, NHS and patient organisations] over the next three years will determine whether the UK’s future as a pioneer in accelerating rare disease diagnosis and treatment can be realised.”