The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index; none of the 20 sources its claims cite is checked for support yet.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Open accessAbstract
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.
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34 Own result · 14 Not checked yet · 8 Own interpretation · 7 Own method · 1 No basis given
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The study population included 108 patients”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 108- Asserted: passes — The authors put it forward as true.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“surveillance for specific complications was initiated in 19 patients (18%)”
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
“including targeted surveillance to identify complications of the condition in 19 patients (18%)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 19- Asserted: passes — The authors put it forward as true.
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- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“One patient with pontocerebellar hypoplasia was found to have an unbalanced translocation on concurrent chromosomal microarray, and was not included in the ultra-rapid exome sequencing diagnostic”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plainSingle case- Asserted: passes — The authors put it forward as true.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“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.”
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
“Among the 53 patients who did not receive a molecular diagnosis through ultra-rapid exome sequencing, 6 (11%) were considered as having had a change in clinical management”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plaindirectn = 53- Asserted: passes — The authors put it forward as true.
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- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“93 reports (86%) were issued prior to death or hospital discharge”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plain- Asserted: passes — The authors put it forward as true.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“treatment was redirected toward palliative care in 14 patients (13%)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 14- Asserted: passes — The authors put it forward as true.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Among 3 of the 10 patients enrolled from other hospi- tal wards, the molecular diagnostic yield was 30% (95% CI, 0%-50%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plainn = 10- Asserted: passes — The authors put it forward as true.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“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.”
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
“Among the 55 patients receiving a molecular diagnosis, 42 (76%) were considered as having had a subsequent change in clinical management”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plaindirectn = 55- Asserted: passes — The authors put it forward as true.
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- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Among 17 of the 36 patients enrolled from the PICU, the molecular diagnostic yield was 47.0% (95% CI, 27.8%-66.1%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plainn = 36- Asserted: passes — The authors put it forward as true.
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A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“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.”
- Also stated in: § Discussion · plain
“Twenty percent of the molecular diagnoses were made using approaches that extend usual clinical exome sequencing diagnostic practice, including mitochondrial genome sequencing, identification of single-gene copy number variants from exome sequencing data, real-time use of international databases to establish novel gene-disease associations, RNA studies, and additional phenotyping.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plaindirectn = 55- Asserted: passes — The authors put it forward as true.
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- Also stated in: § Discussion · plain
- Probably not a substantial claim. 14
- It may state two separate claims as one. 18
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“34% were female”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 108- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The median age of participants was 28 days (range, 0 days-17 years)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Participant Demographics and Indications for Testing
plainn = 108- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“the median time was 3 days (range, 2-7 days)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Laboratory 1 performed 94 tests and laboratory 2 performed 14 tests.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Primary End Point: Time From Sample Receipt to Ultra-Rapid Exome Sequencing Report
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Routine ultra-rapid exome sequencing trio analyses resulted in 45 molecular diagnoses, with an additional 11 molecular diagnoses made through”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plaindirectn = 55- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The mean sample transportation time was 1.6 days (95% CI, 1.4-1.9days) despite the furthest hospital being 1600 km away from the laboratory site.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Primary End Point: Time From Sample Receipt to Ultra-Rapid Exome Sequencing Report
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“Two further molecular diagnoses were made by submitting novel gene candidates to GeneMatcher 18 (an international data sharing platform) and matching to multiple other cases in real time, enabling establishment of novel genedisease associations and diagnostic reporting.19”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
What the sources say
- Not checked yetcites [18] Sobreira, 2015, GeneMatcher: a matching tool for connecting investigators with an interest in the same gene., Hum Mutat source
- Not checked yetcites [19] Rehman, 2019, Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function., Hum Mutat source
plaindirect- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Of these 11 molecular diagnoses, 7 were made as part of the original analysis, including 3 through hypothesis-driven identification of copy number variants affecting single genes from the exome sequencing data”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plain- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“A molecular diagnosis was established in 55 patients (51%).”
- Also stated in: § Molecular Diagnostic Yield · plain
“A total of 56 molecular diagnoses were made for 55 patients (51%)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 55- Asserted: passes — The authors put it forward as true.
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- Also stated in: § Molecular Diagnostic Yield · plain
In the paper
“Rapid RNA studies confirmed the pathogenicity of a homozygous splicesite ASNS variant in 10 days, and 2 other variants of uncertain significance were reclassified as likely pathogenic after further phenotyping during a period of 6 months.22”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
What the sources say
- Not checked yetcites [22] Richmond, 2020, Rapid identification of biallelic SPTB mutation in a neonate with severe congenital hemolytic anemia and liver failiure., Mol Syndromol source
plaindirect- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“62 patients (57%) were admitted to NICUs, 36 patients (33%) were admitted to PICUs, and 10 patients (9%) were from other hospital wards.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Participant Demographics and Indications for Testing
plainn = 108- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The 2 laboratories together were able to provide consistent service based on clinical demand, with 94% of tests reported before the target time of 5 calendar days.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
plain- Asserted: passes — The authors put it forward as true.
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In the paper
“A greater proportion of reports were returned prior to hospital discharge or death and the reports formed part of the palliative care decisions in a greater proportion of the patients who died.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
What the sources say
- Not checked yetcites [8] Stark, 2018, Meeting the challenges of implementing rapid genomic testing in acute pediatric care., Genet Med source
plaincorrelationaln = 108- Asserted: passes — The authors put it forward as true.
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What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“No patients were lost to follow-up and all data collection was complete.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Statistical Analysis
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
In the paper
“the successful spread and scaling up of innovations in health care systems is complex, and necessitates both structure and adaptability to the local context, benefitting from a participatory culture, distributed leadership, transparent assessment of outcomes, collective learning, and adaptation.10”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > M
What the sources say
- Not checked yetcites [10] Greenhalgh, 2019, Spreading and scaling up innovation and improvement., BMJ source
plaindirect- Asserted: passes — The authors put it forward as true.
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In the paper
“Developing purposeful implementation strategies that recognize the iterative, nonlinear, and multicomponent nature of change has the potential to streamline the process of scaling up rapid diagnostic programs across health care systems, preventing costly trial and error at multiple sites.11”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > M
What the sources say
- Not checked yetcites [11] Braithwaite, 2018, When complexity science meets implementation science: a theoretical and empirical analysis of systems change., BMC Med source
hedgedconditional- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. It may be too vague to check against evidence. The paper’s conclusions may not depend on it.
In the paper
“Variants relevant to patient phenotype were classified based on the standards of the American College of Medical Genetics and Genomics. 16”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Exome Sequencing, Data Analysis, and Interpretation
What the sources say
- Not checked yetcites [16] Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology., Genet Med source
plain- Asserted: passes — The authors put it forward as true.
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None of the sources cited for this claim have been checked yet.
In the paper
“Although studies of rapid genomic testing have primarily included infants in neonatal intensive care units (NICUs), 1,[3][4][5]9 a minority of studies have included other critically ill children such as those in pediatric intensive care units (PICUs).2,[6][7][8]”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > M
What the sources say
- Not checked yetcites 1,[3][4][5]9
- Not checked yetcites 2,[6][7][8]
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“which may be partly explained by the uneven distribution of the Australian population and the transfer of complex patients to specialist pediatric hospitals.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
hedgedconditional- Asserted: passes — The authors put it forward as true.
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What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“all clinical and laboratory services participated on a voluntary basis”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Limitations
plain- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“It may also partly represent different levels of clinician engagement, prior experience, and perceptions of utility at different sites.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
hedgedconditional- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“rapid genomic testing challenges all the components of the clinical and laboratory pathway, necessitating timely patient identification, skilled assessment, appropriate counseling, and a high degree of communication and coordination in emotionally charged and rapidly evolving clinical situations.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
What the sources say
- Not checked yetcites [8] Stark, 2018, Meeting the challenges of implementing rapid genomic testing in acute pediatric care., Genet Med source
plaindirect- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“the service delivery model implemented was led by the clinical genetics service as per participating center preferences.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Limitations
plaindirect- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper’s conclusions may not depend on it.
None of the sources cited for this claim have been checked yet.
In the paper
“The lack of health care funding, the underpreparedness of the pediatric workforce, and the resource-intensive nature of rapid testing represent significant barriers to widespread adoption.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
What the sources say
- Not checked yetcites [8] Stark, 2018, Meeting the challenges of implementing rapid genomic testing in acute pediatric care., Genet Med source
- Not checked yetcites [14] Stark, 2019, Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care., Eur J Hum Genet source
- Not checked yetcites [23] Clark, 2019, Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation., Sci Transl Med source
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“there is no consensus on how to evaluate rapid testing programs or what evidentiary threshold should be used for health care system funding.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Limitations
What the sources say
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
The paper relies on this without support.
In critical care, genomic test results must be delivered quickly to be clinically useful.
“In the critical care setting, genomic testing results need to be delivered rapidly to be useful”
The paper relies on this without support.
Mean turnaround times for early rapid testing programs have been between 7 and 23 days.
“the mean turnaround times achieved by nascent rapid testing programs have ranged from 7 to 23 days.”
The paper relies on this without support.
Moving academic single-center rapid genomic testing into health care system implementation requires robust clinical and laboratory pathways for reliable and consistent delivery.
“Translating the experience of academic single-center studies into implementation across health care systems requires the development of robust clinical and laboratory pathways to deliver rapid genomic testing reliably and consistently.”
The paper relies on this without support.
Health care is a complex adaptive system.
“Health care is a complex adaptive system”
The paper relies on this without support.
Successful adoption of rapid genomic testing depends on multidisciplinary teams changing practices across multiple sites, not only on laboratory scalability.
“the successful adoption of innovations such as rapid genomic testing relies not only on the scalability of the laboratory testing, but on the multidisciplinary teams of intensive care physicians, medical subspecialists, clinical geneticists, genetic counselors, laboratory scientists, and bioinformaticians simultaneously changing practices across multiple sites to provide consistent service.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“From diagnosis, families experience considerable grief and need intense support as the disease evolves 160,161 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [161]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Rated major: it would touch a result — a value a result rests on, reported and recomputed p-values on opposite sides of the significance level, two passages that conflict with no sign which is right, or a cited work retracted before this paper was published.
In the paper
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility
“After the ultra-rapid exome sequencing report, changes in clinical management were identified by clinicians for 48 of 108 patients (44%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility
“Changes in clinical management were considered as having occurred in 35 of 62 patients (56%) from the NICU and in 17 of 36 patients (47%) from the PICU.”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
“Among 51 of the 93 patients approved by all the expert panel members, the molecular diagnostic yield was 57.0% (95% CI, 43.0%-63.4%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
Reported 57 · recomputed 54.83871
Citations
Cites
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GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015) · Human Mutation · doi:10.1002/humu.22844 · Cited by 1,529
Braithwaite, J., Churruca, K., Long, J. C., Ellis, L. A., & Herkes, J. (2018) · BMC Medicine · doi:10.1186/s12916-018-1057-z · Cited by 845
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0049-4 · Cited by 445
Use of Exome Sequencing for Infants in Intensive Care Units
Meng, L., Pammi, M., Saronwala, A., Magoulas, P. L., Ghazi, A. R., Vetrini, F., Zhang, J., He, W., Dharmadhikari, A. V., Qu, C., et al. (2017) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2017.3438 · Cited by 429
Spreading and scaling up innovation and improvement
Greenhalgh, T., & Papoutsi, C. (2019) · BMJ · doi:10.1136/bmj.l2068 · Cited by 382
Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J. M., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 354
Self-citation
Cited by
Sorted by citations
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AlMail, A., Jamjoom, A. A., Pan, A. Y., Feng, A., Chau, V., D’Gama, A. M., Howell, K. B., Liang, N. S. Y., McTague, A., Poduri, A., et al. (2024) · Genetics in Medicine Open · doi:10.1016/j.gimo.2024.101145 · Cited by 1
Self-citationHarnessing the power of neuroimaging and whole genome sequencing from fetus to adulthood
Parker, A. P. J. (2021) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15083 · Cited by 1
Applying Genomic Medicine to Critically Ill Children, Science and Fiction*
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Krude, H., Berner, R., & Hoffmann, G. F. (2022) · Monatsschrift Kinderheilkunde · doi:10.1007/s00112-021-01354-y
Genetic and Epigenetic Basis of Development and Disease
Kaub, P. A., & Barnett, C. (2022) · Springer eBooks · doi:10.1007/978-3-030-84168-3_3
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Fong, N., Lim, J. Y., Cham, B., Kam, S., Goh, C. Y. J., Wei, H., Tan, Y. M., Law, H. Y., Lim, W. K., Tan, E. S., et al. (2022) · Annals of the Academy of Medicine Singapore · doi:10.47102/annals-acadmedsg.202252
Next-generation sequencing for gene panels, clinical exome, and whole-genome analysis
Shanahan, M. A., Vossaert, L., & den Veyver, I. B. V. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91380-5.00004-6 · Cited by 1
Genetic Diseases and Invasive Infections in Infants 100 Days or Younger
Zhu, T., Bei, F., He, R., Gong, X., Chen, Y., Yin, Z., Wang, J., Sun, Y., & Zhang, Y. (2023) · The Pediatric Infectious Disease Journal · doi:10.1097/inf.0000000000003939
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Stein, M. L., O’Donnell, R. F., Kleinman, M. E., & Kovatsis, P. G. (2023) · Springer eBooks · doi:10.1007/978-3-031-25358-4_17
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Linscott, K. B., & Hurst, A. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-824010-6.00039-3
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Mozún, R., Belle, F. N., Agostini, A., Baumgartner, M. R., Fellay, J., Forrest, C. B., Froese, D. S., Giannoni, É., Goetze, S., Hofmann, K., et al. (2024) · medRxiv · doi:10.1101/2024.07.24.24310922
Self-citationEconomic evaluations of exome sequencing for rare diseases within pediatric care
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Additional file 1 of The role of exome sequencing in childhood interstitial or diffuse lung disease
Temple, S. E. L., Ho, G., Bennetts, B., Boggs, K., Vidic, N., Mowat, D. R., Christodoulou, J., Schultz, A., Gayagay, T., Roscioli, T., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21077424
Self-citationAdditional file 2 of Genome sequencing as a generic diagnostic strategy for rare disease
Schobers, G., Derks, R. C., den Ouden, A., Swinkels, H. L., van Reeuwijk, J., Bosgoed, E., Lugtenberg, D., Sun, S. M., Corominas, J., Weiss, M. M., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25223922
Additional file 1 of Genome sequencing as a generic diagnostic strategy for rare disease
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Additional file 2 of The role of exome sequencing in childhood interstitial or diffuse lung disease
Temple, S. E. L., Ho, G., Bennetts, B., Boggs, K., Vidic, N., Mowat, D. R., Christodoulou, J., Schultz, A., Gayagay, T., Roscioli, T., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21077427
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Metadata
- Authors
- Australian Genomics Health Alliance Acute Care Flagship, 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., Adès, 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., Springer, A., Tan, N. B., Tan, T. Y., Temple, S. L., Theda, C., Vasudevan, A., White, S. M., Yeung, A., Zhu, Y., Martyn, M., Best, S., Roscioli, T., Christodoulou, J., & Stark, Z.
- Affiliations
- The University of Melbourne (AU)
- The University of Sydney (AU)
- Royal Brisbane and Women's Hospital (AU)
- Women's and Children's Hospital (AU)
- Monash Health (AU)
- Australian Genomics Health Alliance, Parkville, Australia
- Children's Hospital at Westmead (AU)
- UNSW Sydney (AU)
- Royal Children's Hospital (AU)
- Victorian Clinical Genetics Services (AU)
- Hunter Genetics (AU)
- The University of Queensland (AU)
- South Australia Pathology (AU)
- Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia
- Royal Women's Hospital (AU)
- Murdoch Children's Research Institute (AU)
- Corresponding author
- Stark, Zornitza
- ORCID
- Lunke, Sebastian
- Wilson, Meredith
- Patel, Chirag
- Barnett, Christopher P.
- Pinner, Jason
- Sandaradura, Sarah A.
- Buckley, Michael F.
- Krzesinski, Emma I.
- Brett, Gemma R.
- Mowat, David
- Kirk, Edwin P.
- Akesson, Lauren S.
- Amor, David J.
- Ayres, Samantha
- Bray, Alessandra
- Brown, Natasha J.
- Chan, Cheng Yee
- Chong, Belinda
- Cliffe, Corrina
- Delatycki, Martin B.
- Edwards, Matthew
- Fahey, Michael C.
- Fennell, Andrew
- Fowles, Lindsay
- Gallacher, Lyndon
- Higgins, Megan
- Howell, Katherine B.
- Hunt, Lauren
- Hunter, Matthew F.
- Jones, Kristi J.
- King, Sarah
- Kumble, Smitha
- Ma, Alan
- Phelan, Dean
- Quinn, Michael C. J.
- Richmond, Christopher M.
- Rodgers, Jonathan
- Sachdev, Rani
- Sadedin, Simon
- Schlapbach, Luregn J.
- Smith, Janine
- Springer, Amanda
- Tan, Natalie B.
- Tan, Tiong Y.
- Theda, Christiane
- Vasudevan, Anand
- White, Susan M.
- Yeung, Alison
- Zhu, Ying
- Martyn, Melissa
- Best, Stephanie
- Roscioli, Tony
- Christodoulou, John
- Stark, Zornitza
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2020-06-23
- Volume
- 323
- Issue
- 24
- Pages
- 2503
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC7312414
- OpenAlex
- W3035821413
- Cited by
- 239
- References
- 27
- Citations by year
- 2026: 19 · 2025: 33 · 2024: 37 · 2023: 44 · 2022: 58 · 2021: 38 · 2020: 9
- FWCI
- 21.82
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- JAMA (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Griffith Research Online (submittedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- pediatric intensive care, genomic diagnostics, diagnostic yield, turnaround time, implementation strategies, clinical management change, mitochondrial genome sequencing, copy number analysis, neonatal intensive care, public health care system
- MeSH terms
- Exome Sequencing, Australia, Child, Child, Preschool, Feasibility Studies, Female, Genetic Testing, Humans, Infant, Infant, Newborn, Male, National Health Programs, Prospective Studies, Time Factors, Critical Illness, Genetic Diseases, Inborn
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
A language model drew the claims from the paper on 2026-10-05, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).
A second model labelled each claim on 2026-10-05 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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