This study uses real world data to examine healthcare utilization relative to timing of diagnosis in seven RDs based on anticipated costs, evidence for diagnostic odyssey, and potential for new therapies in adrenoleukodystrophy (ALD), infantile-onset and late-onset Pompe disease, Severe Compromised Immunodeficiency (SCID), Fragile X Syndrome (FXS), Duchenne Muscular Dystrophy (DMD), Wilson Disease, and generalized Myasthenia Gravis (gMG). In the three diseases (ALD, PD, SCID) where routine newborn screening has been implemented in some or all states, timely diagnosis can eliminate the diagnostic odyssey and its associated medical costs prior to diagnosis and provide the opportunity for optimal intervention and improved health outcomes.
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