It is only about 10 years or so, since the first human genome was sequenced; it took years and cost hundreds of millions of dollars. Such amounts of money are, of course, far beyond anything the NHS could contemplate spending on a narrowly defined objective. Yet, by 2012 an associated mission was being launched by the NHS in an awesome programme called the 100,000 Genomes Project.
It was set up by Genomics (an NHS company) to provide a better insight into the causes of diseases and how they develop in individuals. Its purpose is to allow treatment to be more precisely targeted and to reduce consequential side-effects. Illumina, who are major providers of sophisticated scientific infrastructure, and The Welcome Trust are also partners in the project.
Whilst Illumina sequencing machines are still prohibitively expensive, the cost of analysing a human genome has fallen dramatically; the Illumina CEO even contemplates producing a genome for as little as $100 in the not too distant future.
The expected benefits are tremendous if processing potential can be achieved and cost reduced; the challenge now is to make the capability a mainstream service, available to analyse enormous amounts of data and to identify mutations that can be treated and signpost the most effective drugs to use.
The ability to process such a tidal wave of data requires highly trained bioinformatics specialists, using digitalised records. That entails harnessing the power of artificial intelligence; a rapidly changing landscape of frightening complexity.
It is a challenge that is already attracting the foremost scientific minds and their companies. Their aim is to take a giant step towards diminishing the threat of genetic disease.
