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

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

(2021) Stephanie Best et al.   npj Genomic Medicine

Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand

(2021) Wuttichart Kamolvisit et al.   CLINICAL GENETICS

Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment

(2021) Ilias Goranitis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Parents’ experiences of decision making for rapid genomic sequencing in intensive care

(2021) Fiona Lynch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

(2021) Mallory J. Owen et al.   NEW ENGLAND JOURNAL OF MEDICINE

Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption

(2021) Linda S. Franck et al.   JOURNAL OF PEDIATRICS

Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders

(2020) Abigail S. Carey et al.   PEDIATRIC RESEARCH

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

(2020) Melissa Hill et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

(2020) Gemma R. Brett et al.   GENETICS IN 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 exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

(2020) Lauren S. Akesson et al.   HUMAN MUTATION

Rapid acute care genomics: Challenges and opportunities for genetic counselors

(2020) Fiona Lynch et al.   Journal of Genetic Counseling

Clinical utility of genomic sequencing: a measurement toolkit

(2020) Robin Z. Hayeems et al.   npj Genomic Medicine

Integrating Genomics into Healthcare: A Global Responsibility

(2019) Zornitza Stark et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit

(2019) Emma E. Smith et al.   Journal of Genetic Counseling

Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates

(2019) Samantha Ayres et al.   Journal of Genetic Counseling

Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns

(2019) John D. Lantos   PEDIATRICS

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

(2019) Christopher Gyngell et al.   PEDIATRICS

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

(2019) Natalie B Tan et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Factors complicating the informed consent process for whole exome sequencing in neonatal and pediatic intensive care units

(2019) Callie J. Diamonstein   Journal of Genetic Counseling

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

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

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

(2019) Deborah Schofield et al.   GENETICS IN MEDICINE

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

(2019) Sarah V. Clowes Candadai et al.   Journal of Genetic Counseling

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

(2019) Michelle M. Clark et al.   Science Translational Medicine

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

(2019) Zornitza Stark et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

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

Mendelian Gene Discovery: Fast and Furious with No End in Sight

(2019) Michael J. Bamshad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

(2019) Stephen F. Kingsmore et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

Genetic Counseling in the Era of Genomics: What’s all the Fuss about?

(2018) Gemma R Brett et al.   Journal of Genetic Counseling

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

(2018) Lauge Farnaes 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

The current state of implementation science in genomic medicine: opportunities for improvement

(2017) Megan C. Roberts et al.   GENETICS IN MEDICINE

Whole genome sequencing in children: ethics, choice and deliberation

(2017) Ainsley J Newson   JOURNAL OF MEDICAL ETHICS

Beyond Adoption: A New Framework for Theorizing and Evaluating Nonadoption, Abandonment, and Challenges to the Scale-Up, Spread, and Sustainability of Health and Care Technologies

(2017) Trisha Greenhalgh et al.   JOURNAL OF MEDICAL INTERNET RESEARCH

Rapid Targeted Genomics in Critically Ill Newborns

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

Use of Exome Sequencing for Infants in Intensive Care Units

(2017) Linyan Meng et al.   JAMA Pediatrics

Recommendations for Conduct, Methodological Practices, and Reporting of Cost-effectiveness Analyses

(2016) Gillian D. Sanders et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

(2015) Laurel K Willig et al.   Lancet Respiratory Medicine

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

The answer is 17 years, what is the question: understanding time lags in translational research

(2011) Zoë Slote Morris et al.   JOURNAL OF THE ROYAL SOCIETY OF MEDICINE

Fostering implementation of health services research findings into practice: a consolidated framework for advancing implementation science

(2009) Laura J Damschroder et al.   Implementation Science