The estimation of health state utility values in rare diseases: overview of existing techniques
Michela Meregaglia, Elena Nicod, Michael Drummond
Techniques for estimating health state utility values (HSUVs) in rare diseases come with pros and cons. This paper provides an overview of these and their implications for health technology assessment (HTA). Direct techniques can be demanding for rare disease patients as they are often children or have cognitively impairments, while alternatives like “vignettes” or multi-attribute utility measures may not capture the often heterogeneous nature of these rare diseases. The “rule of rescue” approach is a promising alternative in its ability to prioritise patients with life-threatening or disabling conditions. Generally, there is a lack of agreement on the most appropriate techniques to estimate HSUVs across different rare diseases. There is an urgent need to establish recommendations that inform better selection of the most appropriate technique in any given context, and address implications for HTA in ensuring disease and treatment impact are appropriately valued.