Boston Children’s Hospital, along with Broad Clinical Labs and Roche Sequencing Solutions, has demonstrated that rapid genomic sequencing and interpretation are achievable in a matter of hours. This milestone not only sets a Guinness World Records for the fastest human whole genome sequencing to date but represents a significant clinical development that would expedite more precise treatments for critically ill babies in the NICU.
The team’s pilot data are published in the New England Journal of Medicine.
Current clinically available rapid genomic sequencing options take days (from sample receipt to report) at best, yet many critical care decisions in the NICU need to occur within a matter of hours. While there have been prior demonstrations of genome-sequencing within hours, none up to now have been scalable or feasible for routine use.