Shortening the diagnostic odyssey-the impact of whole genome sequencing in the NHS.
Accepted version
Peer-reviewed
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Authors
Chinnery, Patrick F
Abstract
I met my first patient with suspected mitochondrial disease in 1995 as a junior neurology trainee in Newcastle upon Tyne. At the time, mitochondrial disorders were thought to be exceptionally rare, with the first genetically defined causes reported only seven years earlier.1 2 Most genetic investigations were carried out in unregulated university laboratories located in a small number of locations worldwide, and referrals were mainly from tertiary centres after a protracted series of clinical opinions and investigations. Many clinicians had not even heard of mitochondrial diseases
Description
Keywords
Genetic Testing, Health Care Costs, Humans, Mitochondrial Diseases, State Medicine, Time Factors, United Kingdom, Whole Genome Sequencing
Journal Title
BMJ
Conference Name
Journal ISSN
0959-8146
1756-1833
1756-1833
Volume Title
375
Publisher
BMJ
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Sponsorship
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Wellcome Trust (212219/Z/18/Z)
Wellcome Trust (212219/Z/18/Z)