Rare diseases, most of which have a genetic basis, collectively affect an estimated 300 million individuals worldwide and are associated with significant morbidity and mortality. Although less than 10% of rare diseases currently have an approved therapy, advances in gene and gene-targeted therapies have brought hope of effective—or even curative—treatment. While the potential for cure has prompted justifiable excitement, the high upfront cost of many of these therapies also raises complex ethical and policy issues.

In response to these challenges, health economists have proposed a range of revisions to traditional value assessment frameworks to include elements relevant to gene therapy, such as “scientific spillover” and “value of hope,” in addition to “health outcomes and costs.” These efforts are focused on systematically assessing the benefits and costs of these therapies to provide evidence of their value and, by extension, their price. However, a lack of real-world data on the long-term effectiveness of these therapies necessitates that these assessments are inherently based on unconfirmed assumptions. In response, policymakers and payers are increasingly considering innovative, value-based payment schemes to tie payment for these therapies to patient outcomes over time. 

Increasing evidence points to inequities in access both within the U.S. and internationally. The tenor of conversations about inequity are likely to increase given the anticipated approval of the first gene therapy for sickle cell disease. The introduction of these therapies also has revealed fault lines within patient communities, with some patients arguing that the emphasis on therapies implicitly devalues their personhood and turns attention away from improving resources to support quality of life for people with disabilities. Addressing the many ethical and economic challenges posed by gene therapies will therefore require engagement with a broad range of stakeholders, a clearer understanding of the goals and values of diverse patient communities, and the development of new methods for measuring and assessing value.