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Article: A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

TitleA three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Authors
Keywordsclinical article
clinical evaluation
clinical outcome
controlled study
diagnostic value
Issue Date2020
PublisherNature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/npjgenmed/
Citation
npj Genomic Medicine, 2020, v. 5, p. article no. 37 How to Cite?
AbstractExome sequencing (ES) has become one of the important diagnostic tools in clinical genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the diagnostic and immediate clinical impact of ES. However, up to 75% of individuals remain undiagnosed and there is scarce evidence supporting clinical utility beyond a follow-up period of >1 year. This is a 3-year follow-up analysis to our previous publication by Mak et al. (NPJ Genom. Med. 3:19, 2018), to evaluate the long-term clinical utility of ES and the diagnostic potential of exome reanalysis. The diagnostic yield of the initial study was 41% (43/104). Exome reanalysis in 46 undiagnosed individuals has achieved 12 new diagnoses. The additional yield compared with the initial analysis was at least 12% (increased from 41% to at least 53%). After a median follow-up period of 3.4 years, change in clinical management was observed in 72.2% of the individuals (26/36), leading to positive change in clinical outcome in four individuals (11%). There was a minimum healthcare cost saving of HKD$152,078 (USD$19,497; €17,282) annually for these four individuals. There were a total of six pregnancies from five families within the period. Prenatal diagnosis was performed in four pregnancies; one fetus was affected and resulted in termination. None of the parents underwent preimplantation genetic diagnosis. This 3-year follow-up study demonstrated the long-term clinical utility of ES at individual, familial and health system level, and the promising diagnostic potential of subsequent reanalysis. This highlights the benefits of implementing ES and regular reanalysis in the clinical setting.
Persistent Identifierhttp://hdl.handle.net/10722/287159
ISSN
2020 Impact Factor: 8.617
2020 SCImago Journal Rankings: 2.641
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorFung, JLF-
dc.contributor.authorYU, MHC-
dc.contributor.authorHuang, S-
dc.contributor.authorCHUNG, CCY-
dc.contributor.authorChan, MCY-
dc.contributor.authorPajusalu, S-
dc.contributor.authorMak, CCY-
dc.contributor.authorHui, VCC-
dc.contributor.authorTSANG, MHY-
dc.contributor.authorYeung, KS-
dc.contributor.authorLek, M-
dc.contributor.authorChung, BHY-
dc.date.accessioned2020-09-22T02:56:41Z-
dc.date.available2020-09-22T02:56:41Z-
dc.date.issued2020-
dc.identifier.citationnpj Genomic Medicine, 2020, v. 5, p. article no. 37-
dc.identifier.issn2056-7944-
dc.identifier.urihttp://hdl.handle.net/10722/287159-
dc.description.abstractExome sequencing (ES) has become one of the important diagnostic tools in clinical genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the diagnostic and immediate clinical impact of ES. However, up to 75% of individuals remain undiagnosed and there is scarce evidence supporting clinical utility beyond a follow-up period of >1 year. This is a 3-year follow-up analysis to our previous publication by Mak et al. (NPJ Genom. Med. 3:19, 2018), to evaluate the long-term clinical utility of ES and the diagnostic potential of exome reanalysis. The diagnostic yield of the initial study was 41% (43/104). Exome reanalysis in 46 undiagnosed individuals has achieved 12 new diagnoses. The additional yield compared with the initial analysis was at least 12% (increased from 41% to at least 53%). After a median follow-up period of 3.4 years, change in clinical management was observed in 72.2% of the individuals (26/36), leading to positive change in clinical outcome in four individuals (11%). There was a minimum healthcare cost saving of HKD$152,078 (USD$19,497; €17,282) annually for these four individuals. There were a total of six pregnancies from five families within the period. Prenatal diagnosis was performed in four pregnancies; one fetus was affected and resulted in termination. None of the parents underwent preimplantation genetic diagnosis. This 3-year follow-up study demonstrated the long-term clinical utility of ES at individual, familial and health system level, and the promising diagnostic potential of subsequent reanalysis. This highlights the benefits of implementing ES and regular reanalysis in the clinical setting.-
dc.languageeng-
dc.publisherNature Research (part of Springer Nature): Fully open access journals. The Journal's web site is located at http://www.nature.com/npjgenmed/-
dc.relation.ispartofnpj Genomic Medicine-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectclinical article-
dc.subjectclinical evaluation-
dc.subjectclinical outcome-
dc.subjectcontrolled study-
dc.subjectdiagnostic value-
dc.titleA three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis-
dc.typeArticle-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailMak, CCY: ccymak@connect.hku.hk-
dc.identifier.emailYeung, KS: ksyyeung@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1038/s41525-020-00144-x-
dc.identifier.pmid32963807-
dc.identifier.pmcidPMC7484757-
dc.identifier.scopuseid_2-s2.0-85090566574-
dc.identifier.hkuros314409-
dc.identifier.volume5-
dc.identifier.spagearticle no. 37-
dc.identifier.epagearticle no. 37-
dc.identifier.isiWOS:000567877000001-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl2056-7944-

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