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

TitleThe clinical impact of chromosomal microarray on paediatric care in Hong Kong
Authors
Issue Date20-Oct-2014
Citation
PLoS One, 2014, v. 9 n. 10, article no. e109629 How to Cite?
AbstractObjective To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. Methods 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. Results 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). Conclusion 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.
Persistent Identifierhttp://hdl.handle.net/10722/205945
ISI Accession Number ID
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DC FieldValueLanguage
dc.contributor.authorTao, QVen_US
dc.contributor.authorChan, YKen_US
dc.contributor.authorChu, WYen_US
dc.contributor.authorMok, TKGen_US
dc.contributor.authorTan, TYen_US
dc.contributor.authorYang, Wen_US
dc.contributor.authorLee, SLen_US
dc.contributor.authorTang, WFen_US
dc.contributor.authorTso, WYWen_US
dc.contributor.authorLau, ETKen_US
dc.contributor.authorKan, SYAen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorChung, BHYen_US
dc.date.accessioned2014-10-20T10:13:43Z-
dc.date.available2014-10-20T10:13:43Z-
dc.date.issued2014-10-20-
dc.identifier.citationPLoS One, 2014, v. 9 n. 10, article no. e109629en_US
dc.identifier.urihttp://hdl.handle.net/10722/205945-
dc.description.abstractObjective To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. Methods 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. Results 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). Conclusion 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.-
dc.languageengen_US
dc.relation.ispartofPLoS Oneen_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleThe clinical impact of chromosomal microarray on paediatric care in Hong Kongen_US
dc.typeArticleen_US
dc.identifier.emailTao, QV: taoqc1@hku.hken_US
dc.identifier.emailChan, YK: ykchanc@hku.hken_US
dc.identifier.emailChu, WY: chuwyy@hku.hken_US
dc.identifier.emailMok, TKG: gtkmok@hku.hken_US
dc.identifier.emailTan, TY: tanty@hku.hken_US
dc.identifier.emailYang, W: yangwl@hkucc.hku.hken_US
dc.identifier.emailLee, SL: slleem@hku.hken_US
dc.identifier.emailTang, WF: h9705682@graduate.hku.hken_US
dc.identifier.emailTso, WYW: wytso@hku.hken_US
dc.identifier.emailLau, ETK: etklau@hkucc.hku.hken_US
dc.identifier.emailKan, SYA: kansya@hku.hken_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.emailLau, YL: lauylung@hku.hken_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityChan, YK=rp00453en_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.identifier.authorityYang, W=rp00524en_US
dc.identifier.authorityTso, WYW=rp01517en_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1371/journal.pone.0109629-
dc.identifier.pmid25333781-
dc.identifier.hkuros241025en_US
dc.identifier.isiWOS:000346766200045-
dc.relation.projectComprehensive genetic evaluation of children with autism spectrum disorders in Hong Kong-
dc.relation.projectProvision of molecular diagnosis for patients with birth defects/genetic conditions in Hong Kong-

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