Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Ewans, LJ
Schofield, D
Shrestha, R
Zhu, Y
Gayevskiy, V
Ying, K
Walsh, C
Lee, E
Kirk, EP
Colley, A
Ellaway, C
Turner, A
Mowat, D
Worgan, L
Freckmann, ML
Lipke, M
Sachdev, R
Miller, D
Field, M
Dinger, ME
Buckley, MF
Cowley, MJ
Roscioli, T
- Publication Type:
- Journal Article
- Citation:
- Genetics in Medicine, 2018, 20 (12), pp. 1564 - 1574
- Issue Date:
- 2018-12-01
Closed Access
Filename | Description | Size | |||
---|---|---|---|---|---|
gim.2018.39.pdf | Accepted Manuscript Version | 3.02 MB | Adobe PDF |
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | Ewans, LJ | en_US |
dc.contributor.author | Schofield, D | en_US |
dc.contributor.author | Shrestha, R | en_US |
dc.contributor.author | Zhu, Y | en_US |
dc.contributor.author | Gayevskiy, V | en_US |
dc.contributor.author |
Ying, K |
en_US |
dc.contributor.author | Walsh, C | en_US |
dc.contributor.author | Lee, E | en_US |
dc.contributor.author | Kirk, EP | en_US |
dc.contributor.author | Colley, A | en_US |
dc.contributor.author | Ellaway, C | en_US |
dc.contributor.author | Turner, A | en_US |
dc.contributor.author | Mowat, D | en_US |
dc.contributor.author | Worgan, L | en_US |
dc.contributor.author | Freckmann, ML | en_US |
dc.contributor.author | Lipke, M | en_US |
dc.contributor.author | Sachdev, R | en_US |
dc.contributor.author | Miller, D | en_US |
dc.contributor.author | Field, M | en_US |
dc.contributor.author | Dinger, ME | en_US |
dc.contributor.author | Buckley, MF | en_US |
dc.contributor.author | Cowley, MJ | en_US |
dc.contributor.author | Roscioli, T | en_US |
dc.date.available | 2018-01-31 | en_US |
dc.date.issued | 2018-12-01 | en_US |
dc.identifier.citation | Genetics in Medicine, 2018, 20 (12), pp. 1564 - 1574 | en_US |
dc.identifier.issn | 1098-3600 | en_US |
dc.identifier.uri | http://hdl.handle.net/10453/129444 | |
dc.description.abstract | © 2018, American College of Medical Genetics and Genomics. Purpose: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway. Methods: WES was applied to a cohort of 54 patients from 37 families with a variety of Mendelian disorders to identify the genetic etiology. Reanalysis was performed after 12 months with an improved WES diagnostic pipeline. A comparison was made between costs of a modeled WES pathway and a traditional diagnostic pathway in a cohort with intellectual disability (ID). Results: Reanalysis of WES data at 12 months improved diagnostic success from 30 to 41% due to interim publication of disease genes, expanded phenotype data from referrer, and an improved bioinformatics pipeline. Cost analysis on the ID cohort showed average cost savings of US$586 (AU$782) for each additional diagnosis. Conclusion: Early application of WES in Mendelian disorders is cost-effective and reanalysis of an undiagnosed individual at a 12-month time point increases total diagnoses by 11%. | en_US |
dc.relation.ispartof | Genetics in Medicine | en_US |
dc.relation.isbasedon | 10.1038/gim.2018.39 | en_US |
dc.subject.classification | Genetics & Heredity | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Genetic Diseases, Inborn | en_US |
dc.subject.mesh | Computational Biology | en_US |
dc.subject.mesh | Phenotype | en_US |
dc.subject.mesh | Cost-Benefit Analysis | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Genetic Testing | en_US |
dc.subject.mesh | Intellectual Disability | en_US |
dc.subject.mesh | Exome | en_US |
dc.subject.mesh | Whole Exome Sequencing | en_US |
dc.title | Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders | en_US |
dc.type | Journal Article | |
utslib.citation.volume | 12 | en_US |
utslib.citation.volume | 20 | en_US |
utslib.for | 0604 Genetics | en_US |
utslib.for | 1103 Clinical Sciences | en_US |
pubs.embargo.period | Not known | en_US |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Science | |
pubs.organisational-group | /University of Technology Sydney/Strength - ithree - Institute of Infection, Immunity and Innovation | |
utslib.copyright.status | closed_access | |
pubs.issue | 12 | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 20 | en_US |
Abstract:
© 2018, American College of Medical Genetics and Genomics. Purpose: Whole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway. Methods: WES was applied to a cohort of 54 patients from 37 families with a variety of Mendelian disorders to identify the genetic etiology. Reanalysis was performed after 12 months with an improved WES diagnostic pipeline. A comparison was made between costs of a modeled WES pathway and a traditional diagnostic pathway in a cohort with intellectual disability (ID). Results: Reanalysis of WES data at 12 months improved diagnostic success from 30 to 41% due to interim publication of disease genes, expanded phenotype data from referrer, and an improved bioinformatics pipeline. Cost analysis on the ID cohort showed average cost savings of US$586 (AU$782) for each additional diagnosis. Conclusion: Early application of WES in Mendelian disorders is cost-effective and reanalysis of an undiagnosed individual at a 12-month time point increases total diagnoses by 11%.
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