Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.

Walsh, M; West, K; Taylor, JA; Thompson, BA; Hopkins, A; Sexton, A; Ragunathan, A; Verma, KP; Panetta, J; Matotek, E; Fahey, MC; Christie, M; Winship, IM; Trainer, AH; James, PA

Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.

Walsh, M West, K Taylor, JA Thompson, BA Hopkins, A Sexton, A

Ragunathan, A Verma, KP Panetta, J Matotek, E Fahey, MC Christie, M Winship, IM Trainer, AH James, PA

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Publisher:: Elsevier
Publication Type:: Journal Article
Citation:: Genet Med, 2022, 24, (7), pp. 1536-1544
Issue Date:: 2022-07

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Field	Value	Language
dc.contributor.author	Walsh, M
dc.contributor.author	West, K
dc.contributor.author	Taylor, JA
dc.contributor.author	Thompson, BA
dc.contributor.author	Hopkins, A
dc.contributor.author	Sexton, A https://orcid.org/0000-0001-8749-1639
dc.contributor.author	Ragunathan, A
dc.contributor.author	Verma, KP
dc.contributor.author	Panetta, J
dc.contributor.author	Matotek, E
dc.contributor.author	Fahey, MC
dc.contributor.author	Christie, M
dc.contributor.author	Winship, IM
dc.contributor.author	Trainer, AH
dc.contributor.author	James, PA
dc.date.accessioned	2023-05-25T19:55:41Z
dc.date.available	2022-03-15
dc.date.available	2023-05-25T19:55:41Z
dc.date.issued	2022-07
dc.identifier.citation	Genet Med, 2022, 24, (7), pp. 1536-1544
dc.identifier.issn	1098-3600
dc.identifier.issn	1530-0366
dc.identifier.uri	http://hdl.handle.net/10453/170474
dc.description.abstract	PURPOSE: This study aimed to correlate the indications and diagnostic yield of exome sequencing (ES) in adult patients across various clinical settings. The secondary aim was to examine the clinical utility of ES in adult patients. METHODS: Data on demographics, clinical indications, results, management changes, and cascade testing were collected for 250 consecutive patients who underwent ES through an adult genetics department between 2016 and 2021. Data were analyzed using descriptive and inferential statistics. Testing in which traditional gene panels were in standard use, such as in heritable cancers, was excluded. RESULTS: The average age at testing was 43 years (range = 17-80 years). A molecular diagnosis was identified in 29% of patients. Older age at symptom onset did not pre-exclude a substantial diagnostic yield. Patients with syndromic intellectual disability and multiple system disorders had the highest yield. In >50% of patients with an exome diagnosis, the results changed management. Cascade testing occured in at least one family member for 30% of patients with a diagnosis. Diagnostic results had reproductive implications for 26% of patients and 31% of patients' relatives. CONCLUSION: ES has a robust diagnostic yield and clear clinical utility in adult patients across a range of ages and phenotypes.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Elsevier
dc.relation.ispartof	Genet Med
dc.relation.isbasedon	10.1016/j.gim.2022.03.010
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject	0604 Genetics, 1103 Clinical Sciences
dc.subject.classification	Genetics & Heredity
dc.subject.mesh	Adult
dc.subject.mesh	Exome
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Humans
dc.subject.mesh	Intellectual Disability
dc.subject.mesh	Phenotype
dc.subject.mesh	Exome Sequencing
dc.subject.mesh	Humans
dc.subject.mesh	Phenotype
dc.subject.mesh	Adult
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Intellectual Disability
dc.subject.mesh	Exome
dc.subject.mesh	Exome Sequencing
dc.subject.mesh	Adult
dc.subject.mesh	Exome
dc.subject.mesh	Genetic Testing
dc.subject.mesh	Humans
dc.subject.mesh	Intellectual Disability
dc.subject.mesh	Phenotype
dc.subject.mesh	Exome Sequencing
dc.title	Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.
dc.type	Journal Article
utslib.citation.volume	24
utslib.location.activity	United States
utslib.for	0604 Genetics
utslib.for	1103 Clinical Sciences
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	closed_access	*
dc.date.updated	2023-05-25T19:55:38Z
pubs.issue	7
pubs.publication-status	Published
pubs.volume	24
utslib.citation.issue	7

Abstract:

PURPOSE: This study aimed to correlate the indications and diagnostic yield of exome sequencing (ES) in adult patients across various clinical settings. The secondary aim was to examine the clinical utility of ES in adult patients. METHODS: Data on demographics, clinical indications, results, management changes, and cascade testing were collected for 250 consecutive patients who underwent ES through an adult genetics department between 2016 and 2021. Data were analyzed using descriptive and inferential statistics. Testing in which traditional gene panels were in standard use, such as in heritable cancers, was excluded. RESULTS: The average age at testing was 43 years (range = 17-80 years). A molecular diagnosis was identified in 29% of patients. Older age at symptom onset did not pre-exclude a substantial diagnostic yield. Patients with syndromic intellectual disability and multiple system disorders had the highest yield. In >50% of patients with an exome diagnosis, the results changed management. Cascade testing occured in at least one family member for 30% of patients with a diagnosis. Diagnostic results had reproductive implications for 26% of patients and 31% of patients' relatives. CONCLUSION: ES has a robust diagnostic yield and clear clinical utility in adult patients across a range of ages and phenotypes.

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http://hdl.handle.net/10453/170474