SIENNA D2.1: State of the art review of human genomic technologies

This deliverable presents a review of the state-of-art of human genomic technologies. It firstly provides a brief description and history of the field indicating the shift from relatively small to large scale analyses of DNA (i.e. genetics to genomics). Subsequently, the field of genomic technologies is further defined and demarcated, including its central concepts (such as DNA, genes, genome, sequencing) as well as a description of current and emerging technologies. These include high throughput sequencing used to study the genome and gene editing technologies which are used to modify the genome. Next generation sequencing is currently applied in research on human genomes, in clinical care, in direct-to-consumer setting as well as for forensic purposes. Current and potential clinical uses include to facilitate diagnosis, guide treatment, assess predisposition for diseases, screen (sick) newborns, test foetuses and in carrier screening. Meanwhile, gene editing is currently used only in the research context (including clinical trials for somatic gene editing). In the fourth and last section of this deliverable, we present an overview of current and future social and economic impacts of genomic technologies. The estimated economic value of the genomic technologies market(s) and the issue of patents in genomics are presented. Furthermore, current or potential social impacts of genomic technologies are discussed. These are related, among others, to: the possibility of treating or curing more diseases, discrimination on the basis of genetic information, possibility of creating disparities in society, instrumentalization of embryos, and impact on people with disabilities.