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A study by researchers from the University of Oxford and the DNA sequencing company makes doctors a step closer to use whole genome sequencing to diagnose and treat patients with genetic diseases. This project showed that genome sequencing provided definitive diagnoses for up to 60% of patients with some types of genetic disorder.

The success of this research has had a dramatic impact in the UK. The UK government has announced that the NHS will sequence 100,000 genomes for patients as part of the Genomics England programme, followed by the USA and other countries. The WGS500 study demonstrated that genome sequencing results could be widely used by doctors in various specialist departments in hospitals.

Sequencing the patient’s entire genome allows all 20,000 genes to be checked at the same time, while the current method can take months or years and sometimes even fails to give a conclusive result. There are about 3.5 million patients with rare diseases in the UK, and this whole genome sequencing technology could transform the diagnosis and treatment of their disease.

“We concentrated on sequencing the genomes of individuals where findings could be immediately useful in terms of diagnosis, prognosis, treatment selection or medical advice for patients and where prior genetic testing had failed to yield results,” said by Dr Jenny Taylor, a lead author of the study and researcher at the NIHR Oxford Biomedical Research Centre.

By now, the study has successfully discovered over 10 new disease genes for inherited cancers, blood disorders, epilepsy and conditions affecting the muscles or development, which can help understand why diseases occur and assist in the diagnosis and clinical management of thousands of other patients.

Results of the WGS500 study have already been of immediate clinical use for thousands of patients and their families. Take inherited colorectal cancer as an example, the discovery of two novel genes has enabled doctors to reassure relatives who do not carry the deleterious variants in those genes. About 3000 patients in the world have already been tested for mutations in the genes.

The study also showed us that novel genetic findings could positively influence the treatment for patients. Besides, the benefits the study were beyond the medical field. The clinical identification of the genetic variant underlying their children’s condition proved decisive in the battle by one set of parents in the study to convince their local authority to provide additional educational support for their children. However, there are still many challenges ahead of the way. More efforts are needed to address new challenges and make full use of the genome sequencing technology.

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