According to a new report from the Government Accountability Office (GAO), diagnosis of any disease can be complicated, and diagnosis of rare diseases can be particularly difficult because of a variety of factors. Although some rare diseases may be detected quickly, in other cases years may pass between the first appearance of symptoms and a correct diagnosis of a rare disease, and misdiagnoses—and treatments based on them—occur with documented frequency.
GAO reviewed literature and conducted interviews with patients with undiagnosed, misdiagnosed, or untreated rare diseases may face various negative outcomes. They found, for example, a person's health can suffer when appropriate, timely interventions are not provided or when interventions based on misdiagnoses cause harm. In addition, multiple diagnostic tests, medical appointments, and ultimately unwarranted interventions can add to the costs of the disease.
The Joint Explanatory Statement for the Further Consolidated Appropriations Act, 2020, includes a provision for GAO to study the costs of rare diseases within the U.S. GAO examined, among other things, the challenges to diagnosing rare diseases and what is known about their costs.
One study estimated total 2019 U.S. costs for rare diseases at $966 billion—including direct medical costs (e.g., drugs, doctor visits) and other nonmedical and indirect costs (e.g., loss of income).
About 30 million people in the U.S.—half of them children—have a rare disease. Many of the diseases are chronic, worsen over time, and are life-threatening. It can take years of testing and misdiagnoses to get a correct diagnosis; in that time, a patient's health can get worse. Partly due to the difficulty of diagnosing rare diseases, the costs related to them are hard to track. But, available research suggests those costs may be substantial.
By definition, few people have any specific rare disease. But there are many different rare diseases—about 7,000. Often genetic, many rare diseases are chronic, progressive, and life-threatening. Relatively little is known about the costs of diagnosing and treating rare disease, either individually or collectively.
According to literature GAO reviewed, diagnosis of any disease can be complicated, and diagnosis of rare diseases can be particularly difficult fora variety of factors. Although some rare diseases may be detected quickly, in other cases years may pass between the first appearance of symptoms and a correct diagnosis of a rare disease. Misdiagnoses—and treatments based on them—occur with documented frequency.