Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

Abstract excerpt

Epidemiologic studies estimate that 2–6% of the global population is affected by a rare disease, up to 80% of which are genetic in origin 1 , 2 . Diagnostic delays can result in significant burdens including missed opportunities for intervention, unnecessary procedures and treatments, and an emotional toll on families and their care providers 3 .

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