TY - JOUR
T1 - Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
T2 - A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel
AU - Cardiomyopathy Variant Curation Expert Panel
AU - ClinGen Cardiovascular Clinical Domain Working Group
AU - Morales, Ana
AU - Ing, Alexander
AU - Antolik, Christian
AU - Austin-Tse, Christina
AU - Baudhuin, Linnea M.
AU - Bronicki, Lucas
AU - Cirino, Allison
AU - Hawley, Megan H.
AU - Fietz, Michael
AU - Garcia, John
AU - Ho, Carolyn
AU - Ingles, Jodie
AU - Jarinova, Olga
AU - Johnston, Tami
AU - Kelly, Melissa A.
AU - Kurtz, C. Lisa
AU - Lebo, Matt
AU - Macaya, Daniela
AU - Mahanta, Lisa
AU - Maleszewski, Joseph
AU - Manrai, Arjun K.
AU - Murray, Mitzi
AU - Richard, Gabriele
AU - Semsarian, Chris
AU - Thomson, Kate L.
AU - Winder, Tom
AU - Ware, James S.
AU - Hershberger, Ray E.
AU - Funke, Birgit H.
AU - Vatta, Matteo
N1 - Publisher Copyright:
© 2021 Association for Molecular Pathology and American Society for Investigative Pathology
PY - 2021/5
Y1 - 2021/5
N2 - 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.
AB - 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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U2 - 10.1016/j.jmoldx.2021.01.014
DO - 10.1016/j.jmoldx.2021.01.014
M3 - Article
C2 - 33631351
AN - SCOPUS:85104622943
SN - 1525-1578
VL - 23
SP - 589
EP - 598
JO - Journal of Molecular Diagnostics
JF - Journal of Molecular Diagnostics
IS - 5
ER -