This free, virtual series is a part of the Baby Badger Network (BBN) collaborative. The target audience is healthcare providers who provide care to critically ill neonates in Wisconsin NICUs.
This webpage contains recordings and resources from the ECHO sessions.
Visit the BBN ECHO Webpage to learn more about session scheduling, registration, and continuing education credits.
Using Evidence Based Criteria to Identify Critically Ill Neonate Candidates for Genomic Testing
Session Resources
Articles
- Diaby, V, et al. Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United State.
- Dimmock, D, et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care.
- Gubbels, CS, et al. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
- Kingsmore, SF, et al. Rapid genome sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
- Kingsmore, SF & Sessions Cole, F. The Role of Genome Sequencing in Neonatal Intensive Care Units.
- Lemke, AA, et al. Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
- Muriello, M. Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit.
- Muriello, M & Basel, D. Rapid Exome and Genome Sequencing in the Intensive Care Unit.
- Sanford Kobayashi, E, et al. Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit.
- Smith, EE, et al. Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit.
- Srivastava, S, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Evidence and Recommendation for Genomic (ES/GS) Testing in Critically Ill Neonates
Session Resources
- Didactic Presentation Slides
- Center for Special Children Brochure
- Plain Community Health Consortium
- Amish, Mennonite and Hutterite Genetic Disorder Database
- Windows of Hope Project
Other Resources
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- Evidence-Based Guidelines Webinar Series 101: Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disabilities – Murugu Manickam MD, MPH, FACGMG
Dysmorphology and Human Phenotype Ontology (HPO) in the NICU Setting
Didactic Presentation:
Carolyn Scoptur, APNP and Jennifer Stengrevics, PAC
July 26, 2024 @ 11:30 am
Session Resources
- Didactic Presentation Slides
- Midwest Genetics Network Region 4 webinar – Dysmorphology 101: Using Your Observation Skills – Susan A. Berry, MD
Clinical Information Required by Testing Labs
Session Resources
Decoding the Genetic Test Report: The Basics
Didactic Presentation:
James Weber PhD and Sara Zoran, MS, CGC
September 20, 2024 @ 11:30 am
Session Resources
Coordinating and Organizing Workflows in Your NICU
Didactic Presentation:
Caroline Kielczewski, MS, CGC and Sumedha Ghate, MS, CGC
November 15, 2024 @ 11:30 am
Session Resources
Talking to Parents about the Utility and Benefits of ES/GS and Obtaining Informed Consent
Session Resources
ES/GS Result Interpretation & Clinical Correlation
Didactic Presentation:
Donald Basel, MD and James Weber, PhD
January 10, 2025 @ 11:30 pm
