What is the impact of rare diseases on individuals and health care systems?

A new NIH study on fourteen rare disease populations revealed the cost of rare disease healthcare to be three to five times higher than for people with more prevalent conditions. The U.S. Government Accountability Office (GAO) also highlighted the challenges of undiagnosed, misdiagnosed, or untreated rare diseases. In addition to increased cost, the study identified issues with timely diagnoses-including biases, access issues, lack of knowledge about the disease, concurrent conditions, lack of diagnostic tests, and other issues.

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