ABSTRACT: Managed care organizations generally pay for expensive drugs that treat rare genetic diseases because few patients have these conditions, the conditions are often life threatening, and the benefit design mandates coverage. In most cases, the cost-control measures and management restrictions applied to many other specialty pharmaceuticals do not make sense for the orphan drugs used to treat extremely rare genetic conditions because treatment alternatives usually are lacking for rare conditions (e.g., Gaucher's disease) and because the per member per month costs for truly rare conditions are low. The increasing number of biologic and injectable therapies for more common conditions, however, is prompting managed care decision makers to manage these new therapies more actively. There is a potential that treatments for rare disorders will be swept up in this broad-based response. This article provides definitions, background, and stakeholder perspectives on this topic and describes recent trends and challenges in health system management of exceedingly rare genetic diseases. The author suggests that current protocols are appropriate for managing rare and ultra-rare diseases, and that applying more active management practices to less rare diseases is neither efficient nor productive; in fact, it may be counterproductive.
Disclosure: The author has a consulting relationship with Genzyme Corp.
This monograph was supported by an educational grant from Genzyme Corp.