In the past, NICE has drawn criticism for its inflexibility in incorporating aspects other than direct health benefits (such as disease rarity) in heath technology assessments. In this study, we explored the relationship between disease rarity, average annual treatment cost (AATC) and access outcomes of non-oncology orphan medications in England.

The data set was comprised of 48 non-oncology orphan medications that received EMA approval between 2007 and 2019 and had completed formal assessment by either NICE or NHS England. NICE & NHS England were the primary sources for disease prevalence, access outcomes, AATC, and incremental quality adjusted life year (QALY) gain. Where AATC was not reported, it was calculated based on list price and dosing regimens stated in the label (using average European weights, where appropriate).

Our results show that, firstly, there is a strong relationship between disease prevalence and AATC for medicines assessed by NICE. Conversely, there is no relationship between disease prevalence and AATC for medicines assessed by NHS England (specialised commissioning). Secondly, there is no relationship between disease prevalence and access outcomes in the UK. And, finally, the framework under which medicines are assessed, single technology appraisal [STA] vs. highly specialised technology [HST]), can significantly affect the AATC: allowing medicines with marginal incremental QALY gains to achieve high AATCs or, conversely, limiting the AATC for medicines with high incremental QALY gains, which were not able to access the HST pathway.

Our research shows that disease rarity is valued by NICE payers, and that it can significantly influence the AATC of a new medicine through both informal and formal incorporation into decision making and assessment frameworks.