Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
| العنوان: | Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM) |
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| المؤلفون: | Carolyn Y. Ho, John Garcia, Tami Johnston, Joseph Maleszewski, Alexander Ing, Matteo Vatta, Ray E. Hershberger, Lucas Bronicki, James S. Ware, Arjun K. Manrai, Jodie Ingles, Cardiomyopathy Variant Curation Expert Panel, Gabriele Richard, Olga Jarinova, Lisa Mahanta, Melissa A. Kelly, Tom Winder, Birgit Funke, Christopher Semsarian, K Thomson, Matthew S. Lebo, Allison L. Cirino, Michael Fietz, Mitzi L. Murray, Christina Austin-Tse, Christian Antolik, C. Lisa Kurtz, Linnea M. Baudhuin, Ana Morales, Daniela Macaya, Megan H. Hawley |
| المصدر: | The Journal of Molecular Diagnostics : JMD |
| بيانات النشر: | American Society for Investigative Pathology, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Adult, Male, medicine.medical_specialty, MEDLINE, Cardiomyopathy, Data field, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, medicine, Humans, Medical physics, Genetic Testing, Genetic testing, Retrospective Studies, Data collection, medicine.diagnostic_test, business.industry, Genome, Human, Hypertrophic cardiomyopathy, Genetic Variation, Regular Article, Genomics, Requisition, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Data set, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Molecular Medicine, Female, business |
| الوصف: | 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. |
| اللغة: | English |
| تدمد: | 1943-7811 1525-1578 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8320282c0dfc25e4e473d50876f07672 http://europepmc.org/articles/PMC8188618 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8320282c0dfc25e4e473d50876f07672 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19437811 15251578 |
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