Video Replay: NICU/Pediatric Genetic Testing Discussion with Dr. Monica Wojcik

研报英文原文证据摘录

Video Replay: NICU/Pediatric Genetic Testing Discussion with Dr. Monica Wojcik

Expert

Series

USA | Life Science Tools & Diagnostics EquityJulyResearch1, 2026

Video Replay: NICU/Pediatric Genetic Testing

Discussion with Dr. Monica Wojcik

We hosted an expert call with Dr. Monica Wojcik, neonatologist and clinical

geneticist at Boston Children's Hospital and Associate Professor of Pediatrics

at Harvard Medical School. Below, we recap key takeaways from the call. Please

.

see here for the video replay.

Whole genome/exome are now a clear standard of care. Dr. Wojcik described Boston Children's

as having effectively moved away from CMAs and targeted panels in acute pediatric settings,

with WGS/WES now viewed as the standard of care for suspected rare disease. The shift has

meaningfully accelerated over the last 1-2 years, aided by lower costs, faster turnaround times and

streamlined consent workflows. OOP cost is currently viewed as the only factor that would warrant

considering an alternative to WGS/WES in this setting. Outside academic pediatric centers and

Level 3/4 NICUs, there is still some work to be done to facilitate ease of adoption of WGS/WES

testing but she expects the shift to happen soon.

Exome to genome shift. While Dr. Wojcik noted that exome plus CMA remains a reasonable option

where reimbursement constraints persist, her institution has largely moved towards WGS as the

preferred first-line test (she has not ordered an exome test in two years). Whole genome offers an

8% incremental yield over exome at the high end (albeit requiring research-setting work to optimize),

with the idea that a WGS-first approach reduces the need for reflexing exome-negative patients

(40% yield) by beginning with the most sensitive test upfront. Dr.