An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Nat Commun. 2022 Jul 26;13(1):4057. doi: 10.1038/s41467-022-31446-6. While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for […]

Better and Faster is Cheaper

Hum Mutat. 2022 Jun 20. doi: 10.1002/humu.24422. Online ahead of print. ABSTRACT The rapid pace of advancement in genomic sequencing technology has recently reached a new milestone, with a record-setting time to molecular diagnosis of a mere eight hours. The catalyst behind this achievement is the accumulation of evidence indicating that quicker results more often […]

The Role of Genome Sequencing in Neonatal Intensive Care Units

Annu Rev Genomics Hum Genet. 2022 Jun 8. doi: 10.1146/annurev-genom-120921-103442. Online ahead of print. ABSTRACT Genetic diseases disrupt the functionality of an infant’s genome during fetal-neonatal adaptation and represent a leading cause of neonatal and infant mortality in the United States. Due to disease acuity, gene locus and allelic heterogeneity, and overlapping and diverse clinical […]

Best practices for the interpretation and reporting of clinical whole genome sequencing

NPJ Genom Med. 2022 Apr 8;7(1):27. doi: 10.1038/s41525-022-00295-z. ABSTRACT Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the Medical Genome Initiative, a consortium of leading health care and […]

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

Children. 2022; 9(3):357. Abstract We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized neonates and children up to 18 years of age meeting clinical criteria for testing. We surveyed 307 healthcare […]

2022: A pivotal year for diagnosis and treatment of rare genetic diseases

Cold Spring Harb Mol Case Stud. 2022 Feb 25:mcs.a006204. doi: 10.1101/mcs.a006204. Online ahead of print. ABSTRACT The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals; the theme of this special issue. Here I briefly review recent developments in the […]

Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results

Prenat Diagn. 2022 Feb 9. doi: 10.1002/pd.6111. Online ahead of print. ABSTRACT OBJECTIVE: To determine which types of fetal anomalies are associated with postnatal diagnoses of genetic diseases by genomic sequencing and to assess how prenatal genomic sequencing could affect clinical management. METHOD: This was a secondary analysis of the second Newborn Sequencing in Genomic […]

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics

Pediatr Res. 2022 Feb 3. doi: 10.1038/s41390-022-01965-5. Online ahead of print. ABSTRACT BACKGROUND: Rapid next-generation sequencing (NGS) offers the potential to shorten the diagnostic process and improve the care of acutely ill children. The goal of this study was to report our findings, including benefits and limitations, of a targeted NGS panel and rapid genome […]

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit 

Front. Pediatr., 24 January 2022. doi: 10.3389/fped.2021.809536. ABSTRACT The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU outside of the neonatal age group is lacking. In this study, […]