Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Vaidehi Jobanputra, Brock E. Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie L. Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna A. Ellsworth, Euan A. Ashley, Ryan J. Taft
Abstract
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 .
Topics & Concepts
Call to actionGenomeAction (physics)DNA sequencingComputational biologyGeneticsBiologyDNAGeneBusinessPhysicsMarketingQuantum mechanicsGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic factors in colorectal cancer