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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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Title: 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
Authors: Morales, A
Ing, A
Antolik, C
Autstin-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, J
Hershberger, RE
Funke, BH
Vatta, M
On behalf of theClinGen Cardiovascular Clinical Domain Working GroupCardiomyopathy Variant Curation Expert Panel
Item Type: Journal Article
Abstract: 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.
Issue Date: 1-May-2021
Date of Acceptance: 25-Jan-2021
URI: http://hdl.handle.net/10044/1/87301
DOI: 10.1016/j.jmoldx.2021.01.014
ISSN: 1525-1578
Publisher: American Society for Investigative Pathology (ASIP)
Start Page: 589
End Page: 598
Journal / Book Title: The Journal of Molecular Diagnostics
Volume: 23
Issue: 5
Copyright Statement: © 2021 Published by Elsevier Inc. on behalf of the Association for Molecular Pathology and American Society for Investigative Pathology.This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0)
Sponsor/Funder: Wellcome Trust
British Heart Foundation
Wellcome Trust
Funder's Grant Number: 107469/Z/15/Z
RE/18/4/34215
200990/A/16/Z
Keywords: ClinGen Cardiovascular Clinical Domain Working Group
Cardiomyopathy Variant Curation Expert Panel
Pathology
1108 Medical Microbiology
Publication Status: Published
Online Publication Date: 2021-02-22
Appears in Collections:National Heart and Lung Institute
Institute of Clinical Sciences
Faculty of Medicine



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