The UK should seek to be a European leader for rare disease medicine, says new report

Improving NHS access to innovative rare disease treatments could deliver up to £4.4 billion in lifetime health benefits for people living with rare conditions and generate £19 billion in productivity gains over 10 years, according to a new report by Frontier Economics for the ABPI.

The report, 'Investing in Rarity: The Economic and Personal Value of Improving Treatment for Rare Disease ', notes that while rare diseases affect more than 3.5 million people in the UK, only 5 per cent of rare conditions currently have an effective treatment, and just over a third of licensed orphan medicines are fully accessible to NHS patients.

Commissioned by the Association of the British Pharmaceutical Industry (ABPI) and conducted by Frontier Economics, the study shows that if the UK became the best-performing European country on access to rare disease medicines, the benefits would be profound for patients, families, the NHS, and the wider economy, including:

• 158,000 additional patients gaining access to treatment
• 68,000 'quality-adjusted life years' gained, worth £4.4 billion in lifetime benefits for people living with rare conditions
• £2.3 billion a year in productivity gains - equivalent to £19.4 billion over a decade - through reduced absenteeism and increased workforce participation
• Significant NHS savings from avoided hospital admissions and emergency care
• £100 million saved in carers' allowance payments as more carers can return to work [1]

Although individual rare diseases affect fewer than 1 in 2,000 people, collectively they represent a major public health challenge.

Even where medicines do exist, only 35 percent of orphan medicines licensed in the EU are fully accessible to patients in England and Scotland, leaving the UK behind comparable European nations. [2]

Rare diseases also carry a heavy economic burden. One in seven patients and carers has had to stop or reduce professional activity due to a rare disease. People with rare diseases are almost three times more likely to be unemployed than the general population, and delayed diagnosis and limited treatment options are estimated to cost the UK economy £14.9bn annually.

However, if the UK can improve access to orphan medicines for patients while supporting continued innovation in the R&D pipeline, this could bring substantial benefits to patients, the economy, and the healthcare system.

Victoria Jordan, Director of Value and Access Policy at ABPI, said: "Many patients with a rare disease have no treatment options - the pipeline of medicines from pharmaceutical companies has the potential to change this.

"Improving access to rare disease medicines would transform thousands of lives, ease pressure on families, and deliver significant economic and NHS benefits. Just because these diseases are rare, the case for investing in new treatments must not be overlooked.

"We have an opportunity - and a responsibility - to remove barriers and ensure patients living with rare diseases can benefit from medical advances as soon as they are available."

A spokesperson from the Genetic Alliance UK said: "Millions of people with rare conditions and their families face daily uncertainty, delays and missed opportunities for treatment. This report puts hard economic numbers behind what those families already know: the cost of inaction is enormous. We welcome the report's findings and hope they drive the urgent policy change needed for our rare community."

To illustrate the challenges faced by those with a rare disease, Frontier Economics conducted in-depth analyses of three groups of rare conditions, Spinal Muscular Atrophy (SMA), Neuromyelitis Optica Spectrum Disorder (NMOSD), and Motor Neurone Disease (MND).

Across all case studies, patients and clinicians consistently stressed the importance of early diagnosis, coordinated specialist care and rapid access to treatment where medicines are available to boost future innovation.

For children with Type 1 SMA, modern therapies have already proven transformative, delivering an 81 per cent reduction in death or permanent ventilation and a 57 per cent reduction in serious adverse events compared to children on older treatments.

By removing barriers and improving access to rare disease treatments, the report concludes the UK could improve lives, strengthen the NHS and secure lasting economic benefits, while becoming a global leader in care for people living with rare conditions. They also noted the lifechanging potential of some of the new treatments that we are seeing emerge and emphasise the need for continued work in the R&D space.