307 - Practice Variation in Perceived Optimal Genetic Testing Across CHNC ECMO Centers

Poster Number: 307
Publication Number: 307.441

K. Taylor Wild, CHOP, Philadelphia, PA, United States; Franscesca Miquel Verges, Arkansas Children's Hospital / UAMS, Little Rock, AR, United States; Natalie Rintoul, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Robert DiGeronimo, Seattle Children's Hospital, Seattle, WA, United States; Sarah D. Keene, choa/emory, DECATUR, GA, United States; Shannon E. Hamrick, Emory University School of Medicine, Children's Healthcare of Atlanta, Atlanta, GA, United States; Zeenia Billimoria, University of Washington School of Medicine, Seattle, WA, United States; Rachel Chapman, Children's Hospital Los Angeles, Los Angeles, CA, United States; Daniel R. Dirnberger, NemoursAlfred I. duPont Hospital for Children, Kennett Square, PA, United States; Kevin M. Sullivan, Sidney Kimmel Medical College at Thomas Jefferson University, Wilmington, DE, United States; Jeffrey S. Shenberger, Wake Forest School of Medicine of Wake Forest Baptist Medical Center, Winston-Salem, NC, United States; Burhan Mahmood, UPMC Childrens Hospital of Pittsburgh, Pittburgh, PA, United States; Ruth B. Seabrook, Nationwide Children'S Hospital (Columbus, OH), Columbus, OH, United States; Abhishek Makkar, Oklahoma Childrens Hospital at OU Health, Oklahoma City, OK, United States; John M. Daniel, Children's Mercy Hospitals and Clinics, Kansas City, MO, United States; Rakesh Rao, Washington University in St. Louis School of Medicine, Saint Louis, MO, United States; Nicholas R. Carr, University of Utah School of Medicine, Sandy, UT, United States

Background: Comprehensive genetic testing with whole-exome (WES) or whole-genome (WGS) sequencing facilitates earlier diagnosis, can optimize treatment, and may improve outcomes in critically ill neonates, including those requiring extracorporeal membrane oxygenation (ECMO). WES and WGS can often be performed on a “rapid” basis with a turnaround time of about 1-2 weeks.

Objective: Describe practice variation in and barriers to the utilization of genetic testing in neonatal ECMO patients in the Children’s Hospitals Neonatal Consortium (CHNC).

Design/Methods: Cross-sectional survey of Level IV neonatal intensive care units across the CHNC from June to September 2021.

Results: Survey results from 27/41 CHNC ECMO centers are summarized (Table 1). In the evaluation of critically ill infants, all centers currently utilize microarray testing compared to WES (74% of respondents), and WGS (30% of respondents). For ECMO patients, WES and WGS were more likely to be utilized in infants with pulmonary hypertension of unclear etiology. Common indications for WES and WGS included concerning phenotype, history of inheritable condition, severity of disease, unexpected postnatal clinical course, and inability to wean from ECMO support. Sequential testing occurred more frequently than first-line testing with WES or WGS, citing cost of utilization as the primary barrier. Unexpected severity of disease on ECMO was the most common indication for rapid genetic testing. If rapid WES or WGS were readily available, 63% of centers would consider incorporating universal screening for infants upon ECMO cannulation.Conclusion(s): WES and WGS are emerging as first line diagnostic tests for critically ill neonates. Despite variation in the use of WES and WGS, rapid testing may offer earlier diagnosis and improve outcomes. Cost is the primary barrier to utilization and most centers would consider incorporating universal screening on ECMO if readily available.
Table 1. Survey Responses - Likelihood of Ordering Genetic Testing for Critically Ill Infants, Infants on ECMO with Identified and Unidentified Causes of Pulmonary Hypertension
Table 2. Utilization of comprehensive genetic testing (WES/WGS) for neonatal patients on ECMO