The results and current status of CRS4's efforts to improve the representation and use of data generated by genomic tests were recently published in an article co-authored by Cecilia Mascia, Francesca Frexia and Luca Pireddu, included in the proceedings of the Medical Informatics Europe Conference (MIE2020).
The paper describes the genesis and current status of the openEHR Genomics Project, which aims to provide the medical community with open, structured and detailed models for describing complex genomic data while preserving their semantic content, using the openEHR specification – one of the main modeling formalisms in the clinical field. The project was born from the collaboration between the Data-intensive Computing and Biosciences Sectors at CRS4, the HiGHmed Consortium from Germany and the openEHR Clinical Modelling Program, motivated by a shared need to capture the complex semantics of genomic data in the clinical setting, as we progress to a wider-ranging applications of genomics in medicine.
The genomic information models are available in the Clinical Knowledge Manager (CKM) and are currently undergoing the review process by the openEHR community of clinical and technical experts.