Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majority of NGS is still being carried out either via recruitment to specific research studies, or as an add-on for very complex cases being seen in large units with strong academic links. Often, genome sequencing comes at the end of a long and expensive diagnostic odyssey. The challenge we face is this: how do we "left-shift" genomics to the more routine clinical scenarios that most of us work in, and turn it into a (phenomenally rich) component of the background clinical information we have at hand when assessing a patient? Drawing on lessons from the UK 100,000 Genomes Inititative and the UK Deciphering Developmental Disorders (DDD) Study, I will apply a UK perspective to this challenge, and try to paint a picture of a world where patients with rare diseases can rapidly avail of management strategies informed by, and tailored to, their genomes.
Research And Development