The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential difficulties in annotating new genetic variants for individual patients and families. Here we outline the steps in organising whole-genome sequencing for patients in the neurology clinic and emphasise that close liaison between the clinician and the laboratory is essential.
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Contributors HM wrote the article. HH and JP reviewed, commented and provided critical intellectual input.
Funding We acknowledge funding from Medical Research Council (G1100643) and Parkinson’s UK (K1501).
Competing interests HM is employed by UCL. In the last 24 months; he reports paid consultancy from Biogen, Biohaven and Lundbeck; lecture fees/honoraria from Wellcome Trust, Movement Disorders Society; research Grants from Parkinson’s UK, Cure Parkinson’s Trust, PSP Association, CBD Solutions, Drake Foundation and Medical Research Council. HM is a coapplicant on a patent application related to C9ORF72 - Method for diagnosing a neurodegenerative disease (PCT/GB2012/052140).
Provenance and peer review Not commissioned; externally peer reviewed by Simon Hammans, Southampton, UK, and Mark Manford, Cambridge, UK.
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