Affiliations: Independent Medical and Scientific Communication
Consultant, Atlanta, GA, USA | Center for Health Outcomes and PharmacoEconomic
Research, Arizona Emergency Medicine Research Center, The University of Arizona
Cancer Center, The University of Arizona College of Pharmacy, Tucson, AZ, USA
Note: [] Corresponding author: Grant H. Skrepnek, Ph.D., The University
of Arizona, Center for Health Outcomes and PharmacoEconomic Research, 1295
North Martin Avenue, Tucson, AZ 85721, USA. E-mail:
[email protected]
Abstract: Although more than 7000 diseases have been classified as rare in
nature, estimates place fewer than five percent of these diseases as being a
current focus of substantial drug development. Several challenges exist
concerning the basic understanding of these conditions overall, including a
lack of understanding surrounding natural history, epidemiology, and effective
treatment options in the real-world. The purpose of this paper is to discuss
issues concerning unmet needs of rare disease and adoption or reimbursement
decisions, including ethical and policy considerations associated with the
treatment of rare diseases. Elements that are often inadequately addressed by a
standard economic calculus to evaluate rare disease such as distributive
justice are also addressed. Overall, the opportunity costs of supporting orphan
drug use to treat rare disease must be carefully balanced by the necessities of
treating patients with more common diseases wherein cost-effective treatments
may more readily exist.
