RDAC Position
Early and accurate diagnosis through genetic testing is crucial to improving outcomes for children and adults with rare diseases. The RDAC supports expanded access, funding and healthcare coverage of genetic testing for all Utah patients that could benefit from it.
Issue
Rare diseases represent an underserved and undercounted public health crisis. Most rare diseases have a genetic basis, and genetic testing, such as exome sequencing, whole genome sequencing and disorder-specific genetic panels, play an increasingly important role in the diagnosis and treatment of rare diseases.
Despite the importance of genetic diagnostics, there are still significant barriers for many rare disease patients that limit or prevent access to appropriate testing. The average length of time from the onset of recognizable symptoms to diagnosis of a rare disease in the U.S. is eight years. Misdiagnosis and delays in diagnosis carry high costs, including financial costs in terms of healthcare spending, and the human costs of avoidable disease progression and disability. Early and accurate diagnosis through genetic testing is crucial to improving outcomes for those with rare diseases.
