Imperial College London
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Dr Francesco Mazzarotto

Faculty of Medicine, National Heart & Lung Institute

Honorary Research Fellow
 
 
 
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Contact

 

+44 (0)20 7352 8121 ext 3009f.mazzarotto

 
 
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Location

 

2058Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Mazzarotto:2019:10.1038/s41436-018-0046-0,
author = {Mazzarotto, F and Girolami, F and Boschi, B and Barlocco, F and Tomberli, A and Baldini, K and Coppini, R and Tanini, I and Bardi, S and Contini, E and Cecchi, F and Pelo, E and Cook, SA and Cerbai, E and Poggesi, C and Torricelli, F and Walsh, R and Olivotto, I},
doi = {10.1038/s41436-018-0046-0},
journal = {Genetics in Medicine},
pages = {284--292},
title = {Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center},
url = {http://dx.doi.org/10.1038/s41436-018-0046-0},
volume = {21},
year = {2019}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - PurposeGenetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has catalyzed routine testing of additional genes of dubious HCM-causing potential. We used 19 years of genetic testing results to define a reliable set of genes implicated in Mendelian HCM and assess the value of expanded NGS panels.MethodsWe dissected genetic testing results from 1,198 single-center HCM probands and devised a widely applicable score to identify which genes yield effective results in the diagnostic setting.ResultsCompared with early panels targeting only fully validated sarcomeric HCM genes, expanded NGS panels allow the prompt recognition of probands with HCM-mimicking diseases. Scoring by “diagnostic effectiveness” highlighted that PLN should also be routinely screened besides historically validated genes for HCM and its mimics.ConclusionThe additive value of expanded panels in HCM genetic testing lies in the systematic screening of genes associated with HCM mimics, requiring different patient management. Only variants in a limited set of genes are highly actionable and interpretable in the clinic, suggesting that larger panels offer limited additional sensitivity. A score estimating the relative effectiveness of a given gene’s inclusion in diagnostic panels is proposed.
AU  - Mazzarotto,F
AU  - Girolami,F
AU  - Boschi,B
AU  - Barlocco,F
AU  - Tomberli,A
AU  - Baldini,K
AU  - Coppini,R
AU  - Tanini,I
AU  - Bardi,S
AU  - Contini,E
AU  - Cecchi,F
AU  - Pelo,E
AU  - Cook,SA
AU  - Cerbai,E
AU  - Poggesi,C
AU  - Torricelli,F
AU  - Walsh,R
AU  - Olivotto,I
DO  - 10.1038/s41436-018-0046-0
EP  - 292
PY  - 2019///
SN  - 1098-3600
SP  - 284
TI  - Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
T2  - Genetics in Medicine
UR  - http://dx.doi.org/10.1038/s41436-018-0046-0
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000458017600006&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.nature.com/articles/s41436-018-0046-0
UR  - http://hdl.handle.net/10044/1/74234
VL  - 21
ER  -
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