The first example of whole genome sequencing (WGS) for medical purposes in the UK has been cited as a major research project on the use of WGS in medicine begins.
Genome sequencing was performed on DNA from a four year old girl with a serious skeletal disorder called craniosynostosis and her parents by researchers at Oxford University. They identified a mutation in the gene HUWE1 that is likely to have caused the abnormality and is also associated with learning difficulties; neither parent carried the mutation.
Whilst this finding does not have any immediate implications for the girl’s medical treatment, as has been the case for other recent examples of clinical WGS (see previous news), the family will nevertheless benefit from a clear diagnosis. Besides avoiding the need for further investigations, the findings reveal that the girl’s younger brother and any future siblings are not at increased risk of the same condition, and will also be of value in helping obtain the special educational support she is likely to need.
The Oxford researchers have announced a major collaboration with sequencing company Illumina to produce whole genome sequences for 500 further individuals with serious diseases ‘that pose major challenges in diagnosis, treatment, and care’, focusing particularly on rare genetic conditions, cancer and immunological disorders.
Professor Peter Donnelly, Director of the Wellcome Trust Centre for Human Genetics at the University of Oxford where much of the sequencing will be performed said the project “represents a crucial step as we move towards a new healthcare paradigm in which genetic information from next-generation sequencing is likely to become much more widely used in routine medical practice", noting also that “To see a real example where sequencing makes a difference to a family was incredibly moving”.