The Government Accountability Office (GAO) has released its study on the cost of undiagnosed and untreated rare diseases. The EveryLife Foundation for Rare Diseases’ Community Congress led the policy efforts in support of this study to be included in the Further Consolidated Appropriations Act, 2020 (HR 1865) which was signed into law in December 2019.
The GAO study was based on literature review and interviews and found that “those with undiagnosed, misdiagnosed, or untreated rare diseases may face various negative outcomes,” that “a person’s health can suffer when appropriate, timely interventions are not provided or when interventions based on misdiagnoses cause harm,” and that “multiple diagnostic tests, medical appointments, and ultimately unwarranted interventions can add to the costs of the disease.”
The GAO study builds on the National Economic Burden of Rare Disease Study released by the EveryLife Foundation earlier this year. The Foundation’s study was the first of its kind, providing the most comprehensive assessment of the total cost of rare diseases in the U.S. to date. The study estimated the economic cost of 379 rare diseases reached nearly $1 trillion in the U.S. in 2019. To generate the data for this study, the Foundation identified both direct medical costs, via an analysis of claims data, and indirect and non-medical costs, via a national survey (The Rare Disease Impact Survey) that reflected data from 1,399 members of the rare disease community.
These landmark reports from the Foundation and the GAO will help ensure that the experience of the rare disease community is reflected accurately in policy discussions and serve as powerful tools that underscore the public urgency and awareness of the public health crisis of rare disease.
These reports would not have been possible without the continued and tireless engagement and commitment of the rare disease community.
