A Dolon Institute presentation
Quality of life (QoL) is a critical component of assessing the value of treatments for rare diseases, yet capturing and interpreting QoL evidence in health technology assessment (HTA) can be particularly challenging. Rare diseases are often severe, progressive and poorly understood, with impacts extending beyond patients to families and carers. This HTAi presentation examines how patient-reported outcome measures (PROMs) and health state utility values (HSUVs) are currently used in HTA and sets out five recommendations for improving their use in rare diseases.
The presentation highlights that PROMs can play two important roles in HTA: they can be considered directly as part of an added-benefit assessment, or used to generate HSUVs for cost-effectiveness models. However, approaches vary considerably between HTA bodies, and the use of patient-reported evidence is not yet consistent. The presentation notes that only 47% of HTA bodies require PRO evidence, highlighting an important gap in the systematic consideration of patient experience.
A central theme is that rare diseases present particular methodological challenges for collecting reliable QoL evidence. Limited disease knowledge, complex and multi-system conditions, young or cognitively impaired patient populations and high levels of missing data can make selecting, developing and administering appropriate PROMs difficult. Poor psychometric properties, floor and ceiling effects and other limitations can also result in PRO findings that are inconclusive or appear less meaningful than the underlying patient experience.
The presentation argues that these limitations need to be recognised when evidence is assessed. A lack of statistically significant or conclusive PRO results should not automatically be interpreted as an absence of QoL benefit. The analysis highlights examples where conventional utility approaches may fail to capture important treatment benefits, including long-term effects, changes in quality of life or dimensions of health that are difficult to represent within standard economic models.
The presentation therefore advocates a broader and more contextual approach to QoL evidence. Non-conventional methods for deriving HSUVs, alongside patient evidence, surveys, patient stories and clinical input, can help address evidence gaps and provide greater insight into aspects of treatment that conventional measures may miss. However, the presentation also identifies a need for greater clarity around the acceptability and robustness of these alternative methodologies.
Importantly, the impact of rare disease extends beyond the individual patient. Many rare diseases are life-threatening, debilitating, multi-system and require substantial supportive care. The resulting time, financial, professional and emotional burden on families and carers can be significant, yet these effects are not always adequately reflected in HTA.
The presentation concludes with five recommendations: evaluate QoL impacts on patients and carers; account for the practical challenges of PROM development and administration; avoid equating lack of significant PRO effects with lack of benefit; consider non-conventional and patient/clinical evidence; and explicitly incorporate the QoL impact on families and carers.