The Clinical Genomics Work Group supports the HL7 mission to create and promote its standards by enabling the semantically meaningful exchange of data between parties interested in clinical, personal, and population genomic information and family health history, which are required to support precision medicine. The focus of the clinical genomics domain is the identification of an individual’s genomic data, pertinent environmental factors, and family health history, to better understand the underlying genetic factors contributing to disease and health, and the linking to relevant clinical information including both data and knowledge. The long term vision of the Clinical Genomics Work Group includes within its scope “omics” technologies and data types related to genomics, including genetics, proteomics, epigenetics, etc. Our scope is not limited to human genomics and will cover other organisms.
This work group will facilitate the development of common standards for clinical and translational information management across a variety of organizations, including (but not limited to): 1) academic medical centers, 2) hospitals and in-hospital testing labs, 3) independent testing laboratories, and 4) public data repositories and knowledge-bases serving as references to clinical genomics. These standards are useful for clinical trials and research as well, especially when accessing and integrating with complementary clinical data and workflows.
The work group will collect, review, develop and document clinical genomics use cases in order to determine what data needs to be exchanged. We will review, extend, and translate existing and emerging standards that are relevant to clinical genomics, and are used by relevant stakeholders, including informaticians and clinical practitioners.
In addition, the Clinical Genomics Work Group will seek to ensure that related or supportive standards produced by other HL7 groups can accommodate clinical genomics in clinical care and translational medicine. The work group will also monitor information interchange standards developed outside of HL7, and attempt harmonization of information content and representation of such standards with the HL7 community and work products. Finally, we will work within the HL7 community to understand other work groups’ use cases, including implementation policy and security, to collaboratively develop a comprehensive and integrated solution.