Genome Sequencing Used For First UK Medical Diagnosis

by Malc on August 3, 2011

Genome Sequencing

Genome Sequencing (Image via Wikipedia)

The genetic code of a 4-year old girl has been read to enable doctors to identify the cause of learning difficulties. She is the first person in the UK to have her genetic code read – her “genome sequenced” – to aid a medical diagnosis.

To enable the diagnosis, her parents’ genomes were sequenced as well so the child’s could be compared.

The diagnosis showed that the little girl, Katie, had a mutation called HUWEI which was not present in either parent. This also confirmed that the mutation is unlikely to be in any siblings – present or future. (She has one brother at present.)

The girl’s parents did find the diagnosis helpful, in that they could be prepared to get the best for Katie, knowing exactly what the cause of her learning difficulties were. This would help in education, for example. Up until the diagnosis they knew something was holding back her learning: but they had no idea what it was. The sequencing does not in itself provide a guide to any treatment, but it does give 100% certainty of the diagnosis.

Katie was part of a research project run at Oxford University, which is sequencing the genomes of 500 people with serious diseases and their close relatives.

The Cost of Genome Sequencing

When the genome was first sequenced in 2001 it coast around $100m (£65m). Eight years later, in 2009, this cost had fallen a thousand fold, to $100,000. Today the same sequencing has fallen a further tenfold to $10,000.

It is still pricey: at this rate the $1,000 barrier will be smashed in 3 years – putting it within the reach of many more people, with further falls in cost to come.

(Source: The Times, UK, August 3rd 2011)

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