Electronic Resource
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System.
| العنوان: | Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System. |
|---|---|
| المؤلفون: | Tan T.Y., Springer A., Tan N.B., Temple S.L., Theda C., Vasudevan A., White S.M., Yeung A., Zhu Y., Martyn M., Best S., Roscioli T., Christodoulou J., Stark Z., Lunke S., Eggers S., Wilson M., Patel C., Barnett C.P., Pinner J., Sandaradura S.A., Buckley M.F., Krzesinski E.I., De Silva M.G., Brett G.R., Boggs K., Mowat D., Kirk E.P., Ades L.C., Akesson L.S., Amor D.J., Ayres S., Baxendale A., Borrie S., Bray A., Brown N.J., Chan C.Y., Chong B., Cliffe C., Delatycki M.B., Edwards M., Elakis G., Fahey M.C., Fennell A., Fowles L., Gallacher L., Higgins M., Howell K.B., Hunt L., Hunter M.F., Jones K.J., King S., Kumble S., Lang S., Le Moing M., Ma A., Phelan D., Quinn M.C.J., Richards A., Richmond C.M., Riseley J., Rodgers J., Sachdev R., Sadedin S., Schlapbach L.J., Smith J. |
| بيانات النشر: | American Medical Association (E-mail: smcleod@itsa.ucsf.edu) United States 2020-07-01 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems. Objective(s): To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a public health care system. Design, Setting, and Participant(s): Descriptive feasibility study of critically ill pediatric patients with suspected monogenic conditions treated at 12 Australian hospitals between March 2018 and February 2019, with data collected to May 2019. A formal implementation strategy emphasizing communication and feedback, standardized processes, coordination, distributed leadership, and collective learning was used to facilitate adoption. Exposures: Ultra-rapid exome sequencing. Main Outcomes and Measures: The primary outcome was time from sample receipt to ultra-rapid exome sequencing report. The secondary outcomes were the molecular diagnostic yield, the change in clinical management after the ultra-rapid exome sequencing report, the time from hospital admission to the laboratory report, and the proportion of laboratory reports returned prior to death or hospital discharge. Result(s): The study population included 108 patients with a median age of 28 days (range, 0 days to 17 years); 34% were female; and 57% were from neonatal intensive care units, 33% were from pediatric intensive care units, and 9% were from other hospital wards. The mean time from sample receipt to ultra-rapid exome sequencing report was 3.3 days (95% CI, 3.2-3.5 days) and the median time was 3 days (range, 2-7 days). The mean time from hospital admission to ultra-rapid exome sequencing report was 17.5 days (95% CI, 14.6-21.1 days) and 93 reports (86%) were issued prior to death or hospital discharge. A molecular diagnosis was established in 55 patients (51%). Eleven diagnoses (20%) resulted from using the following approaches to augment standard exome |
| مصطلحات الفهرس: | monogenic disorder, adolescent, article, Australia, child, cohort analysis, copy number variation, critically ill patient, diagnostic test accuracy study, diagnostic value, disease association, female, genetic association, health care system, hospital admission, hospital discharge, human, infant, intersectoral collaboration, laboratory test, major clinical study, male, mitochondrial genetics, molecular diagnosis, multicenter study, neonatal intensive care unit, newborn, palliative therapy, pediatric intensive care unit, priority journal, prospective study, public health service, RNA analysis, whole exome sequencing, ultra rapid exome sequencing, Article |
| URL: | JAMA - Journal of the American Medical Association LibKey Link |
| الاتاحة: | Open access content. Open access content Copyright 2020 Elsevier B.V., All rights reserved. |
| Other Numbers: | AUSHL oai:repository.monashhealth.org:1/29144 JAMA - Journal of the American Medical Association. 323 (24) (pp 2503-2511), 2020. Date of Publication: 23 Jun 2020. 0098-7484 https://repository.monashhealth.org/monashhealthjspui/handle/1/29144 32573669 [http://www.ncbi.nlm.nih.gov/pubmed/?term=32573669] 632152258 (Lunke, De Silva, Boggs, Ayres, Bray, King, Best, Christodoulou, Stark) Australian Genomics Health Alliance, Parkville, Australia (Lunke, Eggers, De Silva, Brett, Akesson, Ayres, Brown, Chong, Delatycki, Gallacher, Kumble, Le Moing, Phelan, Richmond, Riseley, Sadedin, Tan, Tan, White, Yeung, Christodoulou, Stark) Victorian Clinical Genetics Services, Murdoch Children's Research Institute, 50 Flemington Rd, Parkville, VIC 3052, Australia (Lunke, De Silva, Brett, Akesson, Amor, Brown, Delatycki, Gallacher, Howell, Tan, Theda, White, Christodoulou, Stark) University of Melbourne, Melbourne, Australia (Wilson, Sandaradura, Boggs, Ades, Bray, Jones, Ma, Smith) Sydney Children's Hospitals Network-Westmead, Sydney, Australia (Wilson, Sandaradura, Ades, Jones, Ma, Smith, Christodoulou) University of Sydney, Sydney, Australia (Patel, Fowles, Higgins, Hunt, Quinn, Rodgers) Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia (Barnett, Baxendale, Borrie) Women's and Children's Hospital, North Adelaide, Australia (Pinner, Boggs, Mowat, Kirk, Bray, Sachdev) Sydney Children's Hospitals Network-Randwick, Sydney, Australia (Pinner, Mowat, Kirk, Roscioli) University of New South Wales, Sydney, Australia (Buckley, Kirk, Chan, Cliffe, Elakis, Lang, Richards, Temple, Zhu, Roscioli) NSW Health Pathology Randwick Genomics Laboratory, Sydney, Australia (Krzesinski, Akesson, Fahey, Fennell, Hunter, Springer, Yeung) Monash Genetics, Monash Health, Melbourne, Australia (Krzesinski, Fahey, Fennell, Hunter, Springer) Department of Paediatrics, Monash University, Melbourne, Australia (Amor, Howell) Royal Children's Hospital, Melbourne, Australia (Amor, Howell, Theda, Martyn, Best) Murdoch Children's Research Institute, Melbourne, Australia (Chan, Roscioli) Neuroscience Research Australia, University of New South Wales, Sydney, Australia (Edwards) Hunter Genetics, Newcastle, Australia (Edwards) Department of Paediatrics, School of Medicine, University of Western Sy Stark Z.; zornitza.stark@vcgs.org.au 1305107326 |
| المصدر المساهم: | MONASH HEALTH LIBRS From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1305107326 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |