Pandora's Genome

IT in the NHS is in a pickle, and it was in a pickle before the May 2017 Ransomware attacks . Here in Northern Ireland we were fortunately spared the problems that occurred in England, and a large part of the thanks for that has to go to our skilled and dedicated IT professionals in the HSC (what we call the NHS over here), who worked round the clock to protect our vital systems. The pickle has a number of elements. Perhaps the most obvious, and certainly the one that has received the most comment, is our over-dependence on legacy software that often cannot run on modern operating systems. Many PCs in the NHS have to remain on Windows XP because they simply will not run on newer versions of Windows, and there is no easy way to get the software updated. Often these systems were procured poorly (no future-proofing built in), specified poorly, the original vendors have been bought over and the product "sunsetted", or the licences expired. So we have ended up needing to retai...

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...