Implementation of Rapid Genomic Sequencing for Critically Ill Infants: What’s Next?

Saturday, April 29, 2023

8:00 AM – 9:30 AM ET

Location: Convention Center: 146 A

CE: Live CME: 1.50

Selected By: Neonatal

Chair(s)

KF

Kristen Fishler, MS, CGC (she/her/hers)

Genetic Counselor
Genetics and Rehabilitation
University of Nebraska Medical Center
University of Nebraska Medical Center
OMAHA, Nebraska, United States

Disclosure(s):

Kristen P. Fishler, MS, CGC: No financial relationships to disclose

Session

Description:

Description: Rapid genomic sequencing for diagnosis of infants in an intensive care unit has been proven to have high diagnostic and clinical utility. However, optimal implementation remains incompletely understood and is limited by cost, workforce, and other barriers. In this session, presenters with diverse areas of expertise will review key aspects of rapid genomic sequencing implementation to improve outcomes for hospitalized infants.

Rationale for proposal: Although rapid genomic sequencing has been shown to diagnose infants earlier and to have a higher yield than other modalities, it is still not routinely applied across intensive care units and questions remain regarding which patients to select for testing. Understanding the full range of benefits of rapid sequencing, in addition to implementation barriers and possible solutions, will aid in optimal dissemination of this diagnostic approach that has revolutionized neonatal care.

Learning Objectives:

Identify barriers to equitable access to genomic sequencing for critically ill infants and strategies for overcoming these barriers
Identify stakeholders with differing concepts of turnaround time for rapid genome sequencing of critically ill infants and the impact on clinical practice.
Describe the benefits of diagnostic genetic testing, explain how rapid genome sequencing for critically ill infants is paid for, and relevant factors for decision makers.

Presentations:

8:00 AM – 8:15 AM ET

Discovering What Matters Most: Parent Perceptions of Health Outcomes after Diagnostic Genetic Evaluation in the NICU
Speaker: Monica Wojcik, MD, MPH, FAAP, FACMG – Boston Children's Hospital
8:15 AM – 8:30 AM ET

Centering access equity in newborn genome sequencing
Speaker: Tara L. Wenger, MD, PhD (she/her/hers) – University of Washington
8:30 AM – 8:45 AM ET

Bundle of Joy: How Inpatient Genome Sequencing for Critically Ill Infants Gets Paid For
Speaker: Bruce D. Gelb, MD (he/him/his) – Icahn School of Medicine at Mount Sinai
8:45 AM – 9:00 AM ET

How Rapid is Rapid? Multiple Stakeholder Perspectives on Turnaround Time in Rapid Genome Sequencing
Speaker: Bimal Pankaj Chaudhari, MD, MPH (he/him/his) – Nationwide Childrens Hospital