Clinical Functional Genomics

Carpenter, Seren; Conlan, R. Steven

SIMPLE SUMMARY: Functional genomics refers to the activity of the genome, that is, how the information contained in DNA (the book) is read and ‘acted upon’ in a biological context. Genes are turned ‘on’ (resulting in the synthesis of RNA that is translated into proteins) or ‘off’ during development and in response to environmental stimuli. Mis-regulation of these process can manifest as disease. Functional genomics are currently being developed clinically to improve patient care, with some clear potential future goals within the field. This commentary discusses rapidly evolving clinical functional genomic pathways and the underpinning technologies that have allowed for recent research and scientific advancements, and addresses challenges faced in the field. ABSTRACT: Functional genomics is the study of how the genome and its products, including RNA and proteins, function and interact to affect different biological processes. The field of functional genomics includes transcriptomics, proteomics, metabolomics and epigenomics, as these all relate to controlling the genome leading to expression of particular phenotypes. By studying whole genomes—clinical genomics, transcriptomes and epigenomes—functional genomics allows the exploration of the diverse relationship between genotype and phenotype, not only for humans as a species but also in individuals, allowing an understanding and evaluation of how the functional genome ‘contributes’ to different diseases. Functional variation in disease can help us better understand that disease, although it is currently limited in terms of ethnic diversity, and will ultimately give way to more personalized treatment plans.