Abstract Number: PB0687
Meeting: ISTH 2020 Congress
Background: Genetic testing is increasingly utilized in hematology as a first line tool for diagnostic purposes. While genetic testing can aid in determining disease etiology without the need for multiple confirmatory laboratory tests, reporting of results may be imprecise and lead to confusion or mis-diagnosis.
Aims: The Clinical Genome Resource (ClinGen) is a consortium project funded primarily by the National Human Genome Research Institute of NIH to promote genomic knowledge in order to improve patient care. The Hemostasis/Thrombosis Clinical Domain Working Group (CDWG) within ClinGen was established in 2018 to address the need to improve the utility of genetic testing, while leveraging previous work by the ThromboGenomics project.
Methods: The CDWG convened an executive committee of clinicians and researchers with expertise in hemostasis/thrombosis who prioritized the curation of genes and variants within several domains: platelet disorders, coagulation factor deficiency disorders, von Willebrand disease, thrombosis and hereditary hemorrhagic telangiectasia. Expert panels were developed to tackle both gene curation (assessing the strength of association between a particular gene and a disease phenotype) and variant curation (assessing the pathogenicity of variants within selected genes with respect to a specific phenotype).
Results: Gene curation results are publicly available on the ClinGen website (https://clinicalgenome.org/) and can be used to assess the validity of genes within testing panels, and determine which disease phenotypes are associated with genes of interest. Variant curation results, which will be submitted to the ClinVar website for public use, will provide expert-reviewed variant classifications in genes included in clinical test panels.
Conclusions: By assessing the strength of gene/disease associations, standardizing gene-specific variant curation guidelines, sharing of genomic data amongst expert members and the incorporation of data from existing disease databases, the number of variants of uncertain significance will decrease, thereby improving the value of genetic testing as a diagnostic tool.
To cite this abstract in AMA style:Lee K, DeMille D, Gomez K, Kahr W, Lambert M, Lillicrap D, McDougal D, Mohan S, Morange P, Mumford A, Ross J, Zehnder J, Berg J, Key N, on Behalf of the ClinGen Hemostasis/Thrombosis Clinical Domain Working Group Executive Committee . Advancing the Understanding and Significance of Genetic Testing Results in Hemostasis/Thrombosis [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/advancing-the-understanding-and-significance-of-genetic-testing-results-in-hemostasis-thrombosis/. Accessed March 4, 2024.
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