2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genomics as a First-Tier Diagnostic Test for Neonates and Infants with Congenital Heart Disease: A Better Approach than Cyto-Centric Studies

Pdf Summary

The document discusses the use of genomics as a first-tier diagnostic test for neonates and infants with congenital heart disease (CHD) and compares it to the traditional approach of cytogenetic studies. The purpose of the study is to collect preliminary data to evaluate the performance and clinical utility of the genomics-driven algorithm. <br /><br />The results from cytogenetic and genomic outcomes are presented. In the cytogenetic outcomes from July 2020 to August 2021, there were 35 orders, of which 29 were negative and 4 were positive. In the genomic outcomes from August 2021 to January 2023, there were 50 orders, with 17 negative, 10 noncontributory VUS, 9 contributory VUS, and 5 positive results. <br /><br />The document concludes that the genomic approach has a higher diagnostic yield compared to cytogenetics. The panel's CNV analysis was 100% sensitive to detect the deletions identified by FISH and CMA, while cytogenetics would fail to detect 60% of monogenic variants. Genomics also has a higher uninformative VUS rate, but this is expected and may be resolved with more data. The data support the use of genomics as the preferred first-tier diagnostic approach for CHD in neonates and infants. <br /><br />Overall, the study indicates that the use of genomics in diagnosing CHD has advantages over cytogenetic studies, providing better sensitivity and diagnostic yield.

Asset Subtitle

Presenting Author - Megan D. Maxwell, MS, LCGC; Co-Author - Brooke Polendo, BA; Co-Author - David A. Guerra, MHA; Co-Author - Alfonso E. Ortiz, BS, MLS(ASCP)cm; Co-Author - Stephanie Y. Whitehead, MBA, MPH, BS, MLS(ASCP)cm; Co-Author - Russell Higgins, MD; Co-Author - Alayna Zalesny, MS, GC; Co-Author - Kristin Fiebelkorn, MD, FCAP, FASCP; Co-Author - Marianne J. Karam-Mell, PA-C; Co-Author - Amy Quinn, MD; Co-Author - Aaron M. Abarbanell, MD, MSCR;

Meta Tag

Cardiac/circulatory disorders

Cardiovascular System

Clinical Applications of Molecular Cytogenetics

Clinical Cytogenetics

Congenital Anomaly

Cytogenetics

Exome sequencing

Genetic Testing

Genome sequencing

Genomic Methodologies

Malformation

Methodology

Microarray

Molecular Cytogenetics

NextGen Sequencing

Co-Author Brooke Polendo, BA

Co-Author David A. Guerra, MHA

Co-Author Alfonso E. Ortiz, BS, MLS(ASCP)cm

Co-Author Stephanie Y. Whitehead, MBA, MPH, BS, MLS(ASCP)cm

Co-Author Russell Higgins, MD

Co-Author Alayna Zalesny, MS, GC

Co-Author Kristin Fiebelkorn, MD, FCAP, FASCP

Co-Author Marianne J. Karam-Mell, PA-C

Co-Author Amy Quinn, MD

Co-Author Aaron M. Abarbanell, MD, MSCR

Presenting Author Megan D. Maxwell, MS, LCGC

Keywords

genomics

first-tier diagnostic test

congenital heart disease

CHD

cytogenetic studies

diagnostic yield

CNV analysis

monogenic variants

uninformative VUS rate

sensitivity