Recommendations on value assessment and funding processes in rare diseases.

Rare diseases are an important public health issue with high unmet need. Approximately 30 million Americans are affected by one of 7,000 rare diseases, typically defined as affecting fewer than 200,000 individuals, or approximately 60 per 100,000 population.

Biopharmaceutical products targeted at these rare conditions are often called 'orphan drugs'.

While there are many factors that affect orphan-drug uptake, one of the most important is the challenging task of determining (and implementing) pricing and reimbursement decisions. There has been little consensus on the most appropriate assessment criteria, perspective or appraisal process. 

This 2018 article from researchers at the Institute for Clinical and Economic Review explore steps taken by Health Technology Assessment (HTA) bodies worldwide to define the level of rarity that would necessitate special measures and the modifications to their assessment and valuation processes needed, and the contextual components for rare-disease evaluation that lie outside of the assessment framework.

While there is no simple solution, many HTA and public payers worldwide have developed and operationalized their own specific approaches for accommodating orphan drugs.