2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Whole-Genome Sequencing in the NICU: Improving Healthcare through Precision Medicine

Pdf Summary

Infants admitted to the NICU often require extensive and costly workup, testing, and care. Conditions such as arthrogryposis, non-immune hydrops fetalis (NIHF), and skeletal dysplasia can lead to prolonged diagnostic journeys, longer NICU stays, and higher healthcare costs. However, rapid whole genome sequencing (rWGS) can offer a solution by quickly analyzing the entire genome and eliminating the need for multiple genetic tests.<br /><br />A study conducted at the University of Utah and Intermountain Healthcare analyzed clinical charts of 283 infants with these diagnoses to investigate the types of genetic testing performed, diagnostic yield, and turnaround time. It was found that rWGS had a diagnostic yield of 31% and a turnaround time of 10 days. This is compared to other genetic tests such as SNP microarray, FISH, single gene testing, gene panels, and exome sequencing, which had varying diagnostic yields and longer turnaround times.<br /><br />The use of rWGS in this population led to earlier molecular diagnoses, eliminating the need for multiple genetic panels and tests. This allowed for faster initiation of targeted and effective treatments, shorter NICU stays for diagnostic workup, improved outcomes in neonates, and lower healthcare costs. Additionally, expanding these testing modalities to allow for prenatal diagnosis can further optimize management and improve outcomes.<br /><br />In conclusion, rapid whole genome sequencing in arthrogryposis, NIHF, and skeletal dysplasia allows for faster molecular diagnosis, earlier initiation of targeted treatment, and improved healthcare outcomes. Further steps involve expanding testing modalities for prenatal diagnosis to enable earlier intervention.

Asset Subtitle

Presenting Author - Danielle Bonser, BS; Co-Author - Martin Tristani-Firouzi, MD; Co-Author - Rachel Palmquist, MS, CGC; Co-Author - Sabrina Malone Jenkins, MD;

Meta Tag

array CGH

Bone/Joint Abnormalities

Chromosomal Abnormalities

Clinical Applications of Molecular Cytogenetics

Congenital Anomaly

Cytogenetics

Delineation of Diseases

Etiology

Exome sequencing

FISH

Genetic Testing

Genome sequencing

Genomic Methodologies

Genotype-Phenotype Correlations

Microarray

Musculoskeletal system

NextGen Sequencing

Phenotype

Prenatal Diagnosis

Sequencing

Co-Author Martin Tristani-Firouzi, MD

Co-Author Rachel Palmquist, MS, CGC

Co-Author Sabrina Malone Jenkins, MD

Presenting Author Danielle Bonser, BS

Keywords

NICU

arthrogryposis

hydrops fetalis

skeletal dysplasia

rapid whole genome sequencing

diagnostic yield

turnaround time

genetic tests

targeted treatments

prenatal diagnosis