Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia

Integrated multi-omics for rapid rare disease diagnosis on a national scale

(2023) Sebastian Lunke et al.   NATURE MEDICINE

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

(2022) Ilias Goranitis et al.   GENETICS IN MEDICINE

Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

(2022) John E. Gorzynski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

(2022) Sarah U. Morton et al.   JAMA Neurology

Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting

(2022) Kelly M. East et al.   Journal of Personalized Medicine

Genetics follow up after rapid genomic sequencing in intensive care: current practices and recommendations for service delivery

(2022) Fiona Lynch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2022) Katharine Press Callahan et al.   JAMA Network Open

Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis

(2022) Feifan Xiao et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Integrating rapid exome sequencing into NICU clinical care after a pilot research study

(2022) Alissa M. D’Gama et al.   npj Genomic Medicine

Co-design, implementation, and evaluation of plain language genomic test reports

(2022) Gemma R. Brett et al.   npj Genomic 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

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

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

Measuring physician practice, preparedness and preferences for genomic medicine: a national survey

(2021) Amy Nisselle et al.   BMJ Open

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

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

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

Consent for rapid genomic sequencing for critically ill children: legal and ethical issues

(2021) Christopher Gyngell et al.   Monash Bioethics Review

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

Rapid acute care genomics: Challenges and opportunities for genetic counselors

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

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

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

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

(2018) Zornitza Stark et al.   GENETICS IN MEDICINE

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

(2018) Lauge Farnaes 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