Better and faster is cheaper. Issue 11 (27th June 2022)

• Record Type: Journal Article
• Authors: Sanford Kobayashi, Erica F.; Dimmock, David P.
• Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
• Is Part Of: Human mutation. Volume 43:Issue 11(2022)
• Page Start: 1495
• Page End: 1506
• Publication Date: 2022-06-27
• Subjects: rapid whole‐exome sequencing -- rapid whole‐genome sequencing -- ultra‐rapid whole genome sequencing; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24422
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: The rapid pace of advancement in genomic sequencing technology has recently reached a new milestone, with a record‐setting time to molecular diagnosis of a mere 8 h. The catalyst behind this achievement is the accumulation of evidence indicating that quicker results more often make an impact on patient care and lead to healthcare cost savings. Herein, we review the diagnostic and clinical utility of rapid whole genome and rapid whole exome sequencing, the associated reduction in healthcare costs, and the relationship between these outcome measures and time‐to‐diagnosis.