Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Walsh, M; Bell, KM; Chong, B; Creed, E; Brett, GR; Pope, K; Thorne, NP; Sadedin, S; Georgeson, P; Phelan, DG; Day, T; Taylor, JA; Sexton, A; Lockhart, PJ; Kiers, L; Fahey, M; Macciocca, I; Gaff, CL; Oshlack, A; Yiu, EM; James, PA; Stark, Z; Ryan, MM; Melbourne Genomics Health Alliance,

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Walsh, M Bell, KM Chong, B Creed, E Brett, GR Pope, K Thorne, NP Sadedin, S Georgeson, P Phelan, DG Day, T Taylor, JA Sexton, A

Lockhart, PJ Kiers, L Fahey, M Macciocca, I Gaff, CL Oshlack, A Yiu, EM James, PA Stark, Z Ryan, MM Melbourne Genomics Health Alliance,

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Publisher:: Wiley Open Access
Publication Type:: Journal Article
Citation:: Annals of Clinical and Translational Neurology, 2017, 4, (5), pp. 318-325
Issue Date:: 2017-05

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Field	Value	Language
dc.contributor.author	Walsh, M
dc.contributor.author	Bell, KM
dc.contributor.author	Chong, B
dc.contributor.author	Creed, E
dc.contributor.author	Brett, GR
dc.contributor.author	Pope, K
dc.contributor.author	Thorne, NP
dc.contributor.author	Sadedin, S
dc.contributor.author	Georgeson, P
dc.contributor.author	Phelan, DG
dc.contributor.author	Day, T
dc.contributor.author	Taylor, JA
dc.contributor.author	Sexton, A https://orcid.org/0000-0001-8749-1639
dc.contributor.author	Lockhart, PJ
dc.contributor.author	Kiers, L
dc.contributor.author	Fahey, M
dc.contributor.author	Macciocca, I
dc.contributor.author	Gaff, CL
dc.contributor.author	Oshlack, A
dc.contributor.author	Yiu, EM
dc.contributor.author	James, PA
dc.contributor.author	Stark, Z
dc.contributor.author	Ryan, MM
dc.contributor.author	Melbourne Genomics Health Alliance,
dc.date.accessioned	2022-09-06T05:09:46Z
dc.date.available	2017-03-15
dc.date.available	2022-09-06T05:09:46Z
dc.date.issued	2017-05
dc.identifier.citation	Annals of Clinical and Translational Neurology, 2017, 4, (5), pp. 318-325
dc.identifier.issn	2328-9503
dc.identifier.issn	2328-9503
dc.identifier.uri	http://hdl.handle.net/10453/161431
dc.description.abstract	OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with peripheral neuropathies. Patients with uninformative results underwent expanded analysis of the WES data. Data on the cost of prior investigations and assessments performed for diagnostic purposes in each patient was collected. RESULTS: Fifty patients with a peripheral neuropathy were recruited (median age 18 years; range 2-68 years). The median time from initial presentation to study enrollment was 6 years 9 months (range 2 months-62 years), and the average cost of prior investigations and assessments for diagnostic purposes AU$4013 per patient. Eleven individuals received a diagnosis from the virtual panel. Eight individuals received a diagnosis following expanded analysis of the WES data, increasing the overall diagnostic yield to 38%. Two additional individuals were diagnosed with pathogenic copy number variants through SNP microarray. CONCLUSIONS: This study provides evidence that WES has a high diagnostic utility and is cost effective in patients with a peripheral neuropathy. Expanded analysis of WES data significantly improves the diagnostic yield in patients in whom a diagnosis is not found on the initial targeted analysis. This is primarily due to diagnosis of conditions caused by newly discovered genes and the resolution of complex and atypical phenotypes.
dc.format	Electronic-eCollection
dc.language	eng
dc.publisher	Wiley Open Access
dc.relation.ispartof	Annals of Clinical and Translational Neurology
dc.relation.isbasedon	10.1002/acn3.409
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences, 1109 Neurosciences
dc.title	Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.
dc.type	Journal Article
utslib.citation.volume	4
utslib.location.activity	United States
utslib.for	1103 Clinical Sciences
utslib.for	1109 Neurosciences
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Genetic Counselling
utslib.copyright.status	open_access	*
pubs.consider-herdc	false
dc.date.updated	2022-09-06T05:09:44Z
pubs.issue	5
pubs.publication-status	Published
pubs.volume	4
utslib.citation.issue	5

Abstract:

OBJECTIVE: To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS: Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with peripheral neuropathies. Patients with uninformative results underwent expanded analysis of the WES data. Data on the cost of prior investigations and assessments performed for diagnostic purposes in each patient was collected. RESULTS: Fifty patients with a peripheral neuropathy were recruited (median age 18 years; range 2-68 years). The median time from initial presentation to study enrollment was 6 years 9 months (range 2 months-62 years), and the average cost of prior investigations and assessments for diagnostic purposes AU$4013 per patient. Eleven individuals received a diagnosis from the virtual panel. Eight individuals received a diagnosis following expanded analysis of the WES data, increasing the overall diagnostic yield to 38%. Two additional individuals were diagnosed with pathogenic copy number variants through SNP microarray. CONCLUSIONS: This study provides evidence that WES has a high diagnostic utility and is cost effective in patients with a peripheral neuropathy. Expanded analysis of WES data significantly improves the diagnostic yield in patients in whom a diagnosis is not found on the initial targeted analysis. This is primarily due to diagnosis of conditions caused by newly discovered genes and the resolution of complex and atypical phenotypes.

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http://hdl.handle.net/10453/161431