レベルIV NICUにおける迅速ゲノムシーケンスの最適化に向けた品質改善イニシアチブ
Alissa M D'Gama1,2, Rachel S Hu3,4, Maya C Del Rosario3,5,6
1Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. alissa.dgama@childrens.harvard.edu.
Objective:
Optimize use of rapid genomic sequencing (rGS) in a level IV NICU.
Study Design:
We designed interventions to improve patient identification, ordering processes, and provider education for rGS in our level IV NICU. We measured the percentage of infants eligible for rGS by internal criteria who had rGS sent, diagnostic yield of rGS (balancing measure), and days from genetics consult to rGS result (balancing measure).
Result:
Our study included 560 infants undergoing genetics evaluation. The percentage of eligible infants who had rGS sent significantly increased from 37% pre-intervention (January 2019-March 2021) to 54% post-intervention (April 2021-September 2024) (p < 0.001). Diagnostic yield of rGS remained stable (32% vs 34%). Time from genetics consult to rGS result significantly decreased from median 32 to 27 days (p = 0.04).
Conclusion:
Our quality improvement initiative increased rGS use with stable diagnostic yield and decreased time to rGS result for critically ill infants with suspected genetic disorders.
