Congressionally funded report details diagnostic challenges and costs of rare diseases in the US

• On October 18, 2021, the Government Accountability Office (GAO) published a report entitled, Rare Diseases: Although Limited, Available Evidence Suggests Medical and Other Costs Can Be Substantial. GAO found that diagnosis of any disease can be complicated, and diagnosis of rare diseases can be particularly difficult because of a variety of factors. Those with undiagnosed, misdiagnosed, or untreated rare diseases may face various negative outcomes. 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. Research on the costs of rare diseases is limited, in part because of the difficulty of diagnosing them. Nonetheless, the costs can be substantial, and can include direct medical costs, direct nonmedical costs, or indirect costs.