Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit

(2022) Michael Muriello   CLINICS IN PERINATOLOGY

Influence of Genetic Information on Neonatologists’ Decisions: A Psychological Experiment

(2022) Katharine Press Callahan et al.   PEDIATRICS

Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project

(2021) Bingbing Wu et al.   CRITICAL CARE MEDICINE

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2021) David T. Miller et al.   GENETICS IN MEDICINE

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

(2021) David Dimmock et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Conceptualization of utility in translational clinical genomics research

(2021) Hadley Stevens Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapid genomic testing for critically ill children: time to become standard of care?

(2021) Zornitza Stark et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome sequencing as a first-line diagnostic test for hospitalized infants

(2021) Kevin M. Bowling et al.   GENETICS IN MEDICINE

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

(2021) et al.   JAMA Pediatrics

Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

(2020) Huijun Wang et al.   npj Genomic Medicine

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

(2020) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

(2020) Amanda S. Freed et al.   JOURNAL OF PEDIATRICS

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

(2020) Robert Śmigiel et al.   Journal of Clinical Medicine

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

(2019) Christopher Gyngell et al.   PEDIATRICS

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

(2019) Stacey Pereira et al.   PEDIATRICS

Neonatologists’ Attitudes About Diagnostic Whole-Genome Sequencing in the NICU

(2019) Brett Knapp et al.   PEDIATRICS

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

(2019) Courtney E. French et al.   INTENSIVE CARE MEDICINE

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

(2019) Alison M. Elliott et al.   EUROPEAN JOURNAL OF PEDIATRICS

The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing

(2019) R. Z. Hayeems et al.   GENETICS IN MEDICINE

Using the Delphi method to identify clinicians’ perceived importance of pediatric exome sequencing results

(2019) Hadley Stevens Smith et al.   GENETICS IN MEDICINE

Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses

(2019) En-Ting Wu et al.   Pediatric Critical Care Medicine

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU

(2019) Erica F. Sanford et al.   Pediatric Critical Care Medicine

Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve

(2019) Courtney Berrios et al.   GENETICS IN MEDICINE

Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine

(2019) Laura Hercher   Cold Spring Harbor Perspectives in Medicine

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

(2019) Cynthia S. Gubbels et al.   GENETICS IN MEDICINE

Parents’ perceptions of personal utility of exome sequencing results

(2019) Lonna Mollison et al.   GENETICS IN MEDICINE

Clarifying the Meaning of Clinically Meaningful Benefit in Clinical Research

(2019) Kevin P. Weinfurt   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

(2018) Hadley Stevens Smith et al.   GENETICS IN MEDICINE

Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease

(2018) Danton S Char et al.   GENETICS IN MEDICINE

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

(2018) Jan M. Friedman et al.   GENETICS IN MEDICINE

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

(2018) Michelle M. Clark et al.   npj Genomic Medicine

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

(2018) Josh E. Petrikin et al.   npj Genomic Medicine

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

(2018) Lamia Mestek-Boukhibar et al.   JOURNAL OF MEDICAL GENETICS

Personal utility in genomic testing: a systematic literature review

(2017) Jennefer N Kohler et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

(2017) Aurélie Bourchany et al.   European Journal of Medical Genetics

A taxonomy of medical uncertainties in clinical genome sequencing

(2017) Paul K.J. Han et al.   GENETICS IN MEDICINE

Rapid Targeted Genomics in Critically Ill Newborns

(2017) Cleo C. van Diemen et al.   PEDIATRICS

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

(2016) Hussein Daoud et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

(2016) Zornitza Stark et al.   GENETICS IN MEDICINE

Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges

(2016) M. J. Deem   PEDIATRICS

Genomic intensive care: should we perform genome testing in critically ill newborns?: Table 1

(2015) Dominic JC Wilkinson et al.   Archives of Disease in Childhood-Fetal and Neonatal Edition

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

(2015)   GENETICS IN MEDICINE

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

(2015) Kym Boycott et al.   JOURNAL OF MEDICAL GENETICS

Emergency medical genomes: a breakthrough application of precision medicine

(2015) Stephen F. Kingsmore et al.   Genome Medicine

Whole-genome sequencing in critically ill infants and emerging ethical challenges

(2015) Danton S Char   Lancet Respiratory Medicine

Outcomes of interest in evidence-based evaluations of genetic tests

(2010) Jeffrey R Botkin et al.   GENETICS IN MEDICINE

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group

(2009) Steven M Teutsch et al.   GENETICS IN MEDICINE

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2009) David Moher et al.   PLOS MEDICINE