Using Genomic Data for Disease Prevention

Scientists at the University of Oxford, in collaboration with the gene sequencing company Illumina, have published results in the journal Nature Genetics that underscore how important whole genome sequencing could prove in preventing disease. For about 60% of patients who had participated in the study, whole genome sequencing diagnosed genetic disorders. Standard genetic tests had failed to do so in those patients.

Convinced of the importance of these results, the UK's National Health Service plans to sequence the genomes of 100,000 patients through the Genomics England programme. The results of the study have translated into the discovery of 10 new disease-causing genes for inherited cancers and blood disorders, epilepsy, and conditions affecting the muscles or development. The authors predict the importance of their study in preventive diagnosis and clinical management.

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