Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
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DOI：
10.1016/j.jmoldx.2021.01.014
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发表时间：
2021-05
期刊：
影响因子：
--
通讯作者：
Cardiomyopathy Variant Curation Expert Panel
中科院分区：
文献类型：
--
作者：
Morales A;Ing A;Antolik C;Austin-Tse C;Baudhuin LM;Bronicki L;Cirino A;Hawley MH;Fietz M;Garcia J;Ho C;Ingles J;Jarinova O;Johnston T;Kelly MA;Kurtz CL;Lebo M;Macaya D;Mahanta L;Maleszewski J;Manrai AK;Murray M;Richard G;Semsarian C;Thomson KL;Winder T;Ware JS;Hershberger RE;Funke BH;Vatta M;ClinGen Cardiovascular Clinical Domain Working Group;Cardiomyopathy Variant Curation Expert Panel
Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation. The ClinGen Cardiomyopathy Variant Curation Expert Panel defined a phenotypic data set for hypertrophic cardiomyopathy (HCM) variant interpretation, with the goal of standardizing requisition forms. Phenotypic data elements listed on requisition forms from nine leading cardiomyopathy testing laboratories were compiled to assess divergence in data collection. A pilot of 50 HCM cases was implemented to determine the feasibility of harmonizing data collection. Laboratory directors were surveyed to gauge potential for adoption of a minimal data set. Wide divergence was observed in the phenotypic data fields in requisition forms. The 50-case pilot showed that although demographics and assertion of a clinical diagnosis of HCM had 86% to 98% completion, specific phenotypic features, such as degree of left ventricular hypertrophy, ejection fraction, and suspected syndromic disease, were completed only 24% to 44% of the time. Nine data elements were deemed essential for variant classification by the expert panel. Participating laboratories unanimously expressed a willingness to adopt these data elements in their requisition forms. This study demonstrates the value of comparing and sharing best practices through an expert group, such as the ClinGen Program, to enhance variant interpretation, providing a foundation for leveraging cumulative case-level data in public databases and ultimately improving patient care.
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影响因子：
39.3
作者：
Elliott, Perry M.;Anastasakis, Aris;Watkins, Hugh
通讯作者：
Watkins, Hugh
DOI：
10.1038/gim.2017.218
发表时间：
2018-03
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Kelly MA;Caleshu C;Morales A;Buchan J;Wolf Z;Harrison SM;Cook S;Dillon MW;Garcia J;Haverfield E;Jongbloed JDH;Macaya D;Manrai A;Orland K;Richard G;Spoonamore K;Thomas M;Thomson K;Vincent LM;Walsh R;Watkins H;Whiffin N;Ingles J;van Tintelen JP;Semsarian C;Ware JS;Hershberger R;Funke B
通讯作者：
Funke B
影响因子：
7.4
作者：
Giudicessi, John R.;Lieve, Krystien V. V.;Ackerman, Michael J.
通讯作者：
Ackerman, Michael J.
影响因子：
2.8
作者：
Zou, Yubao;Wang, Jizheng;Hui, Rutai
通讯作者：
Hui, Rutai
影响因子：
20.1
作者：
Blair, E;Redwood, C;Watkins, H
通讯作者：
Watkins, H