Rare but costly: the importance of defining the true cost of rare diseases in the UK

Isabelle Newell

Head of Rare Diseases, Costello Medical

Rosie Lindup

Senior Policy and Public Affairs Manager, UK BioIndustry Association (BIA)

The socioeconomic burden of a rare disease in the UK is ~£70,000 per patient per year ;¹ it’s critical to acknowledge this cost to recognise the full value of new treatments.

In 2025, we reviewed published evidence for ten rare conditions and estimated that the socioeconomic burden of a rare condition in the UK is ~£70,000 per patient per year – eight times higher than for common diseases.¹ With 3.5 million people in the UK living with a rare condition,² this equates to ~£200 billion annually. While direct costs, including medical care and health-related services, generally accounted for two-thirds, indirect costs (e.g. lost work, caregiver time, impacts on mental health and social participation) were substantial, and underreported.

There are several ongoing UK initiatives which offer opportunities to ensure the socioeconomic burden
of rare diseases is appropriately considered in policy decisions and treatment evaluations,
and to drive real change in access to rare disease medicines.

Our current framework for evaluating new treatments

Evidence shows that access to rare disease medicines in the UK lags behind other medicines and European countries.³ In the UK, the National Institute for Health and Care Excellence (NICE) decides whether new medicines should be funded by the NHS, aiming for effective care and value for money. Yet NICE’s evaluations predominantly focus on direct costs to the NHS and social care services, and impacts on quality of life, while indirect costs are often overlooked. Indirect costs largely fall on individuals with rare diseases and their families, exacerbating negative impacts on daily life, financial strain and caregiver burden. By not formally considering these costs, the full value of new treatments may not be fully recognised. There’s a need for a broader scope in NICE’s decision-making framework to ensure that the socioeconomic benefits of innovative rare disease medicines, such as improved work participation and reduced caregiver time, are routinely considered.

An opportune time to drive change

There are several ongoing UK initiatives to improve access to new treatments, offering opportunities to ensure the socioeconomic burden of rare diseases is appropriately considered in policy decisions and treatment evaluations, and to drive real change in access to rare disease medicines. Despite 3.5 million people in the UK having a rare condition, treatment options remain scarce, with only 5% of rare diseases having a licensed therapy.⁴ Expanding evaluation frameworks to formally consider direct and indirect costs may accelerate access to innovative rare disease medicines, delivering substantial benefits to patients, families, and society by reducing the overall impact of these conditions.

Disclaimer: This article has been commissioned by Costello Medical. The referenced literature review was funded by the UK BioIndustry Association (BIA).

[1] Klein, E. (2026). The hidden socioeconomic impacts of rare diseases in the UK. BIA.
[2] DHSC (2025). England Rare Diseases Action Plan 2025. GOV.UK.
[3] Newton, M. et al. (2025). EFPIA Patients W.A.I.T. Indicator 2024 Survey. IQVIA.
[4] Kaufmann, P. (2018). Orphanet J Rare Dis. 2018 Nov 6;13(1):196.

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