Ending the Diagnostic Odyssey—Is Whole-Genome Sequencing the Answer? AC Wu et al. JAMA Pediatrics, June 2020

Hot Topics of the Day|PHGKB

 Whole Genome Sequencing

Ending the Diagnostic Odyssey—Is Whole-Genome Sequencing the Answer?
AC Wu et al. JAMA Pediatrics, June 2020

Time until diagnosis of rare diseases could be as long as 5 to 30 years through current standards of care.1 Genomic tests early in life could shorten the time to medical diagnosis, curtailing the odyssey. A WGS test traditionally takes weeks to return results, which can delay needed treatment.