Assessing the value of orphan drugs using conventional cost-effectiveness analysis: Is it fit for purpose?

Maarten J. Postma, Declan Noone, Mark H. Rozenbaum, John A. Carter, Marc F. Botteman, Elisabeth Fenwick, Louis P. Garrison*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

1 Citation (Scopus)
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Conventional cost-effectiveness analysis-i.e., assessing pharmaceuticals through a cost per quality-adjusted life year (QALY) framework-originated from a societal commitment to maximize population health given limited resources. This "extra-welfarist" approach has produced pricing and reimbursement systems that are not well- aligned with the unique considerations of orphan drugs. This framework has been slow to evolve along with our increased understanding of the impact of rare diseases, which in turn has complicated the assessment of orphan drugs meant to treat rare diseases. Herein, we (i) discuss the limitations of conventional cost-effectiveness analysis as applied to assessing access to, as well as the pricing and reimbursement of, orphan drugs, (ii) critically appraise alternative and supplemental approaches, and (iii) offer insights on plausible steps forward.

Original languageEnglish
Article number157
Number of pages8
JournalOrphanet journal of rare diseases
Issue number1
Publication statusPublished - 5-Apr-2022


  • Health equity
  • Orphan drug policy
  • Pharmaceutical policy
  • Rare diseases
  • Value of life
  • Value-based pricing

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