Genetic disorders contribute to approximately 40% of pediatric deaths and more than 50% of pediatric hospital admissions. Between 2-3% of children are born with an inborn genetic error, and nearly 1 in 200 babies are born with inborn errors of metabolism. Genetic sequencing, when recommended, should be the standard of care for patients in the NICU for early diagnostic evaluation to avert life-threatening disease outcome. Rapid advancement of sequencing technology in the last decade has drastically reduced the cost of genome sequencing, offering the scope for widespread use of inpatient genomic sequencing for rapid genetic diagnosis, disease specific therapy and management, and reduce morbidity.
Utilizing the new UPMC Genome Center, the neonatal intensive care units (NICU) at Children’s Hospital of Pittsburgh and Magee-Womens Hospital, IPM has supported the deployment of rapid WGS in the clinic. With support from the Richard King Mellon Foundation, IPM has catalyzed the implementation of WGS for the children of our learning healthcare system. PISCES, the NICU sequencing project conducted entirely within Pitt and UPMC, received IRB (Institutional Review Board) approval in 2020 and enrolled its first patients shortly, thereafter, completing in 2021.