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15 November 2017

The future of medical treatment – precision medicine

The rapidly falling cost of genetic testing is revolutionising medicine. The cost of sequencing a whole genome is now less than £1,000, and an entire genome can be characterised in less than 48 hours. This technical progress is astonishing given that the first sequencing of the human genome, which was finalised as recently as 2003, took 13 years to complete, at a cost of more than £2 billion.

Using these advanced genetic sequencing methods, medical professionals are now able to categorise people with similar symptoms into an increasing number of ever narrower groups based on their genetic profile and can potentially target medicines more accurately. For example, researchers from the Wellcome Trust Sanger Institute recently announced they had determined that the most common and dangerous form of leukaemia is actually 11 distinct diseases that each respond very differently to treatment.

To maximise the potential of this approach, the UK government has recently opened a new sequencing centre on the Wellcome Genome Campus in Cambridge, and launched the 100,000 Genomes Project with the aim, by 2019, of sequencing 100,000 genomes. By September 2017 the genomes of 34,151 different people in England had been sequenced. It is hoped that by correlating these genomic sequence data with the corresponding individuals’ medical records a ground-breaking resource can be created that will translate directly into better patient care. The initial areas of focus for this approach have been rare diseases and cancer. The changes in an individual’s DNA that trigger cancer make it an obvious target for a genomic approach, but rare diseases are also an important area, with at least 80 per cent of them being caused by changes in an individual’s DNA sequence.

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