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

Xiao, Fei; Yan, Kai; Tang, Meiling; Ji, Xiaoshan; Hu, Liyuan; Yang, Lin; Zhou, Wenhao

doi:10.1080/14737159.2022.2123704

Cited by 7 publications

(4 citation statements)

References 42 publications

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“…Meta-analysis also showed that the likelihood of diagnosis was significantly greater for trio testing than singletons (odds ratio 2.04) 49 . A second meta-analysis of the utility of RGS and RES in 2022 reported diagnostic rates of 37% and 50%, respectively 86 .…”

Section: Diagnostic Utility Of Urgsmentioning

confidence: 99%

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

Kingsmore,

Nofsinger,

Ellsworth

2024

npj Genom. Med.

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Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome sequencing (RES) are diagnostic tests for genetic diseases for ICU patients. In 44 studies of children in ICUs with diseases of unknown etiology, 37% received a genetic diagnosis, 26% had consequent changes in management, and net healthcare costs were reduced by $14,265 per child tested by URGS, RGS, or RES. URGS outperformed RGS and RES with faster time to diagnosis, and higher rate of diagnosis and clinical utility. Diagnostic and clinical outcomes will improve as methods evolve, costs decrease, and testing is implemented within precision medicine delivery systems attuned to ICU needs. URGS, RGS, and RES are currently performed in <5% of the ~200,000 children likely to benefit annually due to lack of payor coverage, inadequate reimbursement, hospital policies, hospitalist unfamiliarity, under-recognition of possible genetic diseases, and current formatting as tests rather than as a rapid precision medicine delivery system. The gap between actual and optimal outcomes in children in ICUs is currently increasing since expanded use of URGS, RGS, and RES lags growth in those likely to benefit through new therapies. There is sufficient evidence to conclude that URGS, RGS, or RES should be considered in all children with diseases of uncertain etiology at ICU admission. Minimally, diagnostic URGS, RGS, or RES should be ordered early during admissions of critically ill infants and children with suspected genetic diseases.

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Section: Diagnostic Utility Of Urgsmentioning

confidence: 99%

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

Kingsmore,

Nofsinger,

Ellsworth

2024

npj Genom. Med.

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“…4 Since then, there have been notable additions of different types of genomic tests, including targeted multi-gene panels and genome-wide sequencing (GWS). 1,2,5,6 Rapid genome/exome sequencing (rGS/rES) in particular, has resulted in increased diagnostic rates and immediate changes in management of genetic disorders in the NICU and PICU 2,7-50 and has been recently reviewed. 5 Genetic (or genomic) counselling is defined as "the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease."…”

Section: Introductionmentioning

confidence: 99%

“…1,2,5,6 Rapid genome/exome sequencing (rGS/rES) in particular, has resulted in increased diagnostic rates and immediate changes in management of genetic disorders in the NICU and PICU 2,7-50 and has been recently reviewed. 5 Genetic (or genomic) counselling is defined as "the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease." 51,52 During this process, genetic counsellors review family and medical histories to evaluate the chance of disease to occur in patients; provide education with respect to inheritance patterns, genetic testing, management, preventive strategies, resources, and up-to-date research; and counsel to allow patients and families to make informed choices and to help adapt to the disease risk or condition.…”

Section: Introductionmentioning

confidence: 99%

“…In 2010, chromosomal microarray analysis (CMA) was recognized as a first‐tier clinical diagnostic test for genetic disorders 4 . Since then, there have been notable additions of different types of genomic tests, including targeted multi‐gene panels and genome‐wide sequencing (GWS) 1,2,5,6 . Rapid genome/exome sequencing (rGS/rES) in particular, has resulted in increased diagnostic rates and immediate changes in management of genetic disorders in the NICU and PICU 2,7–50 and has been recently reviewed 5 …”

Section: Introductionmentioning

confidence: 99%

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Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim,

Pistawka,

Langlois

et al. 2023

Clinical Genetics

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Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre‐ and post‐test genetic counselling with genome‐wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre‐test, post‐test, and comprehensive (both pre‐ and post‐test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre‐test and post‐test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.

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Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project

Xiao,

Wu,

Dong

et al. 2023

Hum. Genet.

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

Cited by 7 publications

References 42 publications

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project

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