The BioIndustry Association calls for a new rare disease treatment pathway

The BioIndustry Association (BIA) has released its new report, From innovation to impact: unlocking patient access to innovative rare disease medicines, that calls for a new pathway giving UK patients access to innovative rare disease medicines.

The report, developed by the BIA’s Rare Disease Industry Group (RDIG), found that more work is needed in the UK to build a connected access pathway that turns drug discovery into delivery in areas of high unmet need. Following the recent landmark UK-US pharmaceuticals deal, the UK is considering how innovative medicines should be valued, making the report’s findings especially timely.

The National Institute for Health and Care Excellence (NICE) is currently reviewing its methodology for assessing health benefits, while the Medicines and Healthcare products Regulatory Agency (MHRA) is developing a new regulatory pathway for rare disease treatments. In light of these developments, the report believes that the UK could build on its global position in rare disease treatment and enable NHS patients to benefit from innovations in this area.

One finding from the report is that the current pathway between regulatory approval and patient access for rare disease medicines is often unpredictable and slow. The UK’s international position regarding access to these medicines is declining. In 2018, the European Federation of Pharmaceutical Industries and Associations (EFPIA)’s Waiting to Access Innovative Therapies (WAIT) Indicator Survey found that the UK ranked second in Europe for availability of non-oncology orphan drugs, but, according to the 2025 data set, England now ranks tenth.

Jane Wall, managing director of the BIA, said: “Navigating life with a rare disease can be incredibly challenging. For the 3.5 million people living with a rare disease in the UK, the journey from symptoms, to diagnosis, to treatment involves long periods of uncertainty, with only 5% of rare diseases having a licensed treatment. And even when an effective therapy is available to help treat their condition, patients in the UK still face further delays, complexity and uncertainty – with some ultimately missing out on treatment altogether.”
Reduced access to treatment impacts not only patients and families, but also the healthcare system itself: the report found that delayed diagnosis costs the NHS £340m annually, with an estimated £14.9bn loss in tax revenue caused by reduced workforce participation.

In addition, 64% of rare disease stakeholders rated patient access to rare disease medicines as poor or very poor, compared to 12% of stakeholders in non-rare diseases.

The report also made suggestions for four priority areas that could help tackle the issue of access. The first is to create stronger links between regulators and the pharmaceutical industry, integrating early engagement between companies and MHRA/NICE as standard. This would be supported by a reformed Early Access to Medicines Scheme (EAMS) to create a reimbursed early-access pathway.

The second is the evolution and modernisation of NICE approaches to appraisal and reimbursement, utilising the Innovative Medicines Fund to drive patient access. The third is to strengthen adoption and implementation via visible NHS leadership and digitally connected rare disease hubs; the fourth is to establish a UK Government Rare Disease Champion in order to secure the future of rare disease treatment access in the UK.

Nick Meade, CEO of Genetic Alliance UK, said: “In these exciting moments for innovation in rare-condition treatments, we need a system where the cutting edge of science – not the decision-making process – is the limiting factor in what our community can expect. These ideas are welcome, and this is the right moment to take a strategic overview so we can tackle the barriers that continue to stand in the way of addressing unmet need.”

Lawrence Tallon, CEO of the MHRA, said: “It is encouraging to see the BIA’s report so clearly reinforce the direction we are taking at MHRA – towards a regulatory landscape for rare diseases that is more agile, more patient-centred and better equipped to bring innovative treatments to those who need them most.

“The UK has all the ingredients to lead the world in rare-disease therapies: a world class academic and research base, a single national genomics service and the unparalleled scale and diversity of NHS data. The task now is to connect these strengths and harness them through a new regulatory framework.”

The BIA is the national trade association for the UK life science and biotechnology industries.