SSC Subcommittee on OMICS in Thrombosis and Hemostasis

The aim of the subcommittee is to reduce the time to diagnosis of inherited blood, thrombotic and platelet disorders (BTPD) by utilization of high throughput sequencing (HTS) technologies to facilitate a precision-guided clinical decision-making. By developing and curating evidence-based public databases for both confirmed and emerging BTPD- genes, pathogenic variants, variants of unknown clinical significance (VUS) and benign variants, this SSC aims to disseminate findings to the global research and clinical community. The SSC also aims to provide guidelines for best practices for the development and application of BTPD polygenic risk scores, BTPD diagnostic tools built from OMICs data, and other analytic approaches. Collectively the GenOMICs in T&H SSC aims to impact clinical decision making for BTPD screening and prevention programs and the management of individuals with suspected and confirmed BTPD.

If you are interested in the subcommittee and want to follow its activity, please click "join community" to participate. If you are a member of the Society and would like to know how to participate in the work of this group, please join the group to receive updates on activity or submit an Expression of Interest Form to the Chairman or any of the Co-Chairmen. We would be pleased to learn of your interest.

Mandate

• Public evidence-based cataloguing of BTPD genes and causative variants to guide clinical decision making
• Integration of DNA sequence variation data with individual or population-level transcriptomics, proteomics or other OMICs data, and clinical phenotype and demographic data information to inform BTPD risk, and/or to prioritize candidates for biomarker development or therapeutic targeting
• Platform development to allow the simultaneous testing of all known BTPD by next-generation sequencing (NGS) tests
• Address the application, standardization and technical limitations to clinical case interpretation of polygenic risk scores, and best practices for the integration of OMICs data, and data-driven analyses including machine learning and artificial intelligence
• Evaluate and propose solutions to diversify Global access to knowledge, testing and interpretation to improve appropriate adoption of GinTH guidelines internationally

Role:

The following are the ongoing activities and responsibilities of the Subcommittee.

• Sharing research BTPD genes (TIER2) for upgrading to TIER1 status
• Submission and curation of disorder-causing DNA variants for BTPDs using the ISTH GoldVariant database
• Ensure the cataloguing of curated information into a stable and sustainable open access database
• Develop or critically evaluate polygenic risk scores for BTPD
• Survey the practices and needs for GinTH internationally, identify gaps and plan potential solutions to increase adoption of relevant, standardized techniques and sharing of findings
• Standardize OMICs approaches and functional variant assays across labs to improve BTPD diagnosis