The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

<h4>Objective</h4>To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong.<h4>Methods</h4>We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD)...

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Autores principales:	Victoria Q Tao, Kelvin Y K Chan, Yoyo W Y Chu, Gary T K Mok, Tiong Y Tan, Wanling Yang, So Lun Lee, Wing Fai Tang, Winnie W Y Tso, Elizabeth T Lau, Anita S Y Kan, Mary H Tang, Yu-Lung Lau, Brian H Y Chung
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/79857b3efbda47418f8eb9893146c04e
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spelling	oai:doaj.org-article:79857b3efbda47418f8eb9893146c04e2021-11-25T05:56:29ZThe clinical impact of chromosomal microarray on paediatric care in Hong Kong.1932-620310.1371/journal.pone.0109629https://doaj.org/article/79857b3efbda47418f8eb9893146c04e2014-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0109629https://doaj.org/toc/1932-6203<h4>Objective</h4>To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong.<h4>Methods</h4>We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their "clinical actionability" based on established criteria.<h4>Results</h4>Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p < 0.001). Nineteen out of the 28 management recommendations are "evidence-based" on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12).<h4>Conclusion</h4>The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼ 11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing.Victoria Q TaoKelvin Y K ChanYoyo W Y ChuGary T K MokTiong Y TanWanling YangSo Lun LeeWing Fai TangWinnie W Y TsoElizabeth T LauAnita S Y KanMary H TangYu-Lung LauBrian H Y ChungPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 10, p e109629 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Victoria Q Tao Kelvin Y K Chan Yoyo W Y Chu Gary T K Mok Tiong Y Tan Wanling Yang So Lun Lee Wing Fai Tang Winnie W Y Tso Elizabeth T Lau Anita S Y Kan Mary H Tang Yu-Lung Lau Brian H Y Chung The clinical impact of chromosomal microarray on paediatric care in Hong Kong.
description	<h4>Objective</h4>To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong.<h4>Methods</h4>We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their "clinical actionability" based on established criteria.<h4>Results</h4>Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p < 0.001). Nineteen out of the 28 management recommendations are "evidence-based" on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12).<h4>Conclusion</h4>The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼ 11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing.
format	article
author	Victoria Q Tao Kelvin Y K Chan Yoyo W Y Chu Gary T K Mok Tiong Y Tan Wanling Yang So Lun Lee Wing Fai Tang Winnie W Y Tso Elizabeth T Lau Anita S Y Kan Mary H Tang Yu-Lung Lau Brian H Y Chung
author_facet	Victoria Q Tao Kelvin Y K Chan Yoyo W Y Chu Gary T K Mok Tiong Y Tan Wanling Yang So Lun Lee Wing Fai Tang Winnie W Y Tso Elizabeth T Lau Anita S Y Kan Mary H Tang Yu-Lung Lau Brian H Y Chung
author_sort	Victoria Q Tao
title	The clinical impact of chromosomal microarray on paediatric care in Hong Kong.
title_short	The clinical impact of chromosomal microarray on paediatric care in Hong Kong.
title_full	The clinical impact of chromosomal microarray on paediatric care in Hong Kong.
title_fullStr	The clinical impact of chromosomal microarray on paediatric care in Hong Kong.
title_full_unstemmed	The clinical impact of chromosomal microarray on paediatric care in Hong Kong.
title_sort	clinical impact of chromosomal microarray on paediatric care in hong kong.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/79857b3efbda47418f8eb9893146c04e
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The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

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