A White Paper for Genomics in Horizon Europe;

SUMMARY: Medical genomics is the use of genomic data to better understand the genetic and molecular basis of health, disease and drug responses. The major applications are to improve the diagnosis, prevention and treatment of disease, and to accelerate the development of new and better diagnostics, drugs and biologicals such as antibodies and vaccines. Although the key principle of medical genomics is the use of human genome data for the applications listed above, it should also accommodate the genomes of important human-associated microbes (friend and foe) due to their impact on health and disease, including chronic disease.

Furthermore, although genomics can be strictly defined as the use of genome sequence data, it is widely recognized that medical genomics also benefits from the broader omics disciplines (some of which use exactly the same technologies). These can be loosely grouped as functional genomics and they include (but are not limited to) the epigenetic regulation of genetic information (epigenomics), the analysis of gene expression and gene products (transcriptomics, proteomics) and the analysis of small molecules (lipidomics, metabolomics) moving towards a systems biology approach which incorporates multiple aspects of the (clinical) phenotype not just the disease (clinomics or phenomics).

The future development of medical genomics should consider the underlying technologies which comprise standardized methods and operational procedures for data acquisition (DNA/RNA sequencing, protein/metabolite analysis, clinical analysis and diverse phenotyping methods such as high-content imaging) and analysis (increasingly reliant on deep learning and other forms of artificial intelligence) as well as data security, and the surrounding ethical issues.