The Experts below are selected from a list of 408651 Experts worldwide ranked by ideXlab platform
De Silva M.g. - One of the best experts on this subject based on the ideXlab platform.
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Feasibility of ultra-rapid exome sequencing in critically Ill infants and children with suspected monogenic conditions in the Australian Public Health Care system
'American Medical Association (AMA)', 2020Co-Authors: 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.Abstract: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:To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a Public Health Care system. Design, Setting, and Participants: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. Results: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 sequencing analysis: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of international databases to identify novel gene-disease associations, and additional phenotyping and RNA analysis. In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management. Targeted treatments were initiated in 12 patients (11%), treatment was redirected toward palliative Care in 14 patients (13%), and surveillance for specific complications was initiated in 19 patients (18%). Conclusions and Relevance:This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian Public Health Care system. However, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other Health Care settings.Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher P. Barnett, Jason Pinner ... et al
Krzesinski Emma - One of the best experts on this subject based on the ideXlab platform.
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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
'American Medical Association (AMA)', 2020Co-Authors: Australian Genomics Health Alliance Acute Care Flagship, Lunke Sebastian, Eggers Stefanie, Wilson Meredith, Patel Chirag, Barnett, Christopher P, Pinner Jason, Sandaradura, Sarah A, Buckley, Michael F, Krzesinski EmmaAbstract: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 To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a Public Health Care system. Design, Setting, and Participants 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. Results 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 sequencing analysis: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of international databases to identify novel gene-disease associations, and additional phenotyping and RNA analysis. In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management. Targeted treatments were initiated in 12 patients (11%), treatment was redirected toward palliative Care in 14 patients (13%), and surveillance for specific complications was initiated in 19 patients (18%). Conclusions and Relevance This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian Public Health Care system. However, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other Health Care settings
Hai Lin - One of the best experts on this subject based on the ideXlab platform.
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congruence in the assessment of service quality between employees and customers a study of a Public Health Care delivery system
Journal of Business Research, 2009Co-Authors: Gary J Young, Mark Meterko, David C Mohr, Michael Shwartz, Hai LinAbstract:Abstract Using social information processing theory, we examined the congruence between employee and customer assessments of organizations' service quality. The setting was a Public Health Care delivery system. Contrary to expectations, employee assessments of service quality were lower than those of their customers. Also unexpectedly, employees with professional training had less congruent assessments than other employees. As expected, employees with longer tenure and those in departments with stronger customer service work climates had more congruent assessments relative to their customers. The results have implications for both management theory and for managers interested in developing customer-centered organizations.
Lunke S. - One of the best experts on this subject based on the ideXlab platform.
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Feasibility of ultra-rapid exome sequencing in critically Ill infants and children with suspected monogenic conditions in the Australian Public Health Care system
'American Medical Association (AMA)', 2020Co-Authors: 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.Abstract: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:To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a Public Health Care system. Design, Setting, and Participants: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. Results: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 sequencing analysis: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of international databases to identify novel gene-disease associations, and additional phenotyping and RNA analysis. In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management. Targeted treatments were initiated in 12 patients (11%), treatment was redirected toward palliative Care in 14 patients (13%), and surveillance for specific complications was initiated in 19 patients (18%). Conclusions and Relevance:This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian Public Health Care system. However, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other Health Care settings.Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher P. Barnett, Jason Pinner ... et al
Australian Genomics Health Alliance Acute Care Flagship - One of the best experts on this subject based on the ideXlab platform.
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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
'American Medical Association (AMA)', 2020Co-Authors: Australian Genomics Health Alliance Acute Care Flagship, Lunke Sebastian, Eggers Stefanie, Wilson Meredith, Patel Chirag, Barnett, Christopher P, Pinner Jason, Sandaradura, Sarah A, Buckley, Michael F, Krzesinski EmmaAbstract: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 To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a Public Health Care system. Design, Setting, and Participants 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. Results 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 sequencing analysis: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of international databases to identify novel gene-disease associations, and additional phenotyping and RNA analysis. In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management. Targeted treatments were initiated in 12 patients (11%), treatment was redirected toward palliative Care in 14 patients (13%), and surveillance for specific complications was initiated in 19 patients (18%). Conclusions and Relevance This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian Public Health Care system. However, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other Health Care settings