OBJECTIVES: The importance of bringing patient voices into drug development and decision-making is being increasingly recognized, though frameworks for incorporating such evidence are lacking. Qualitative methods are one approach for deriving patient-based evidence and may be particularly well-suited for rare diseases due to small populations. As it is unclear how often qualitative methods are employed, our objective was to document their use in recent rare disease HTA submissions.

METHODS: HTA submissions for rare disease treatments from 06/2021-03/2024 were accessed on 07/06/24 from the National Institute for Health and Care Excellence (NICE) website. Rare diseases were defined as conditions affecting <1/2,000 as listed on orpha.net; oncologic diagnoses were excluded. Data on the use of qualitative methods (minimum sample size of 5) and aspects of the company submission that the qualitative research informed were extracted and synthesized.

RESULTS: Ten recent NICE HTA submissions in rare disease were identified. Five provided qualitative evidence obtained via new research undertaken by the manufacturer (50%). Qualitative evidence was used to understand patient experience of disease (n=5), solicit caregiver/family input (n=4), reach groups other methods could not reach (n=5), and inform subsequent quantitative work (n=1). Four of the 10 rare disease HTA submissions used qualitative methods (often with health care professionals) to inform economic model structure or model inputs. Five HTA submissions considered qualitative evidence from peer-reviewed publications to provide background evidence of unmet need.

CONCLUSIONS: In rare disease HTA submissions, qualitative research was most often used to contextualize patient experiences; however, half of HTA submissions reviewed did not incorporate de novo qualitative research methods or findings. This could be due to time and cost barriers for conducting such research, and/or lack of guidance on how best to incorporate qualitative evidence into an HTA submission. How these findings compare in other therapeutic areas and with other HTA agencies is presently unknown.