The Convergence of Research and Clinical Genomics

I am lucky enough to have both started my career in genomics just before the first reference human genome was created (and been part of that creation) and been involved in the roll-out of large-scale clinical genomics in the form of Genomics England, the UK Department of Health’s wholly owned company that delivers clinical genomics across England (I use “genomics” to mean “genome-wide assays,” encompassing genome sequencing, transcriptomics, proteomics, and metabolomics. This is both for scientific reasons—the same fundamental skill set is used for all these—and for stylistic reasons—the alternative term, “multiomics,” is clumsy and often not understood). It is gratifying to see aspects of my own research move from basic science to the entirely practical delivery in a healthcare setting (although I myself am still firmly rooted in the basic research end), but this individual story is illustrative of the big movement over this decade as healthcare internalizes genomic medicine. There are many challenges and opportunities in this process. In this short perspective I wish to touch on the most important from my viewpoint