MAY 11, 2017 01:30 PM PDT

Pandora's Genome: Making the Revolution Routine

C.E. CREDITS: P.A.C.E. CE | Florida CE
  • Clinical Director, Belfatrust
      Dr Shane McKee is a Consultant in Genetic Medicine at Belfast Health & Social Care Trust in Northern Ireland. He has a long-standing clinical and research interest in the diagnosis and management of ultra-rare genetic syndromes and neurodevelopmental conditions. He has been heavily involved in the DDD (Deciphering Developmental Disorders) Study, which sequenced the exomes of almost 14,000 patients in the UK to determine the genetic architecture of birth defects and intellectual disability presenting in UK clinics. He is currently Principal Investigator for the Northern Ireland contribution to the UK 100,000 Genomes Initiative, and is working with colleagues to advance genomic testing in NI, making it more accessible as a diagnostic tool. His other main interest is in the use of digital technology to improve healthcare, and he is the Chief Clinical Information Officer for the Belfast Trust.


    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.

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