Saturday, 18 January 2014

Human Genome Mapping

For the last three decades or so, it has been possible to 'map' the human genome, to untangle the code of guaninecytosine, adenine and thymine (GCAT) that comprise out genetic make up.

This has revolutionised parts of our life, including crime detection and paternity tests. It has had a much smaller effect in medicine, where there are few treatments available that use genetics. In fact, the whole area of genetics is more complex than anyone realised thirty years ago, and now other concepts such as epigenetics are coming to the fore. It has proved relatively easy to find genetic markers for certain diseases; it has proved much more difficult to produce the long-promised cures from that information.

For years, scientists strove to create the first map of the entire human genome. An international collaborative project called the Human Genome Project started work in 1990. The machines were expensive, and worked slowly, with some human interaction required. The project was scheduled to run for around 15 years to produce a typical map.

Neither was it to be one individual: the map produced was to be of a composite of people.

However the technology continued improving, and in 1998 an American scientists, Craig Venter, set up a company called Celera Genomics to sequence the entire genome of an unknown individual by 2001, a few years earlier than the public project. To pay for it, he wanted to patent important parts of the genome, meaning that any scientists wanting to use that genetic information would have to pay Celera for the honour.

To make matters worse, the public project had released lots of the information they had already sequenced, and Celera did not need to resequence those parts - they used the public information.

This got the scientific world in a tizzy. The public project had a series of meetings, and the Wellcome Trust  threw a massive amount of money at the public project, accepting to sequence a third of the map by itself, rather than the sixth it was scheduled to do. Other companies pledged to give more money to the public project: science could not allow genetics to become patented.

It became an arms race between the private company and the public effort. Thanks to this massive effort by the Wellcome Trust and others around the world, the first drafts of the HGP were completed in 2001, at roughly the same time as Celera's project.

Later, it turned out the Celera's unknown individual was Venter himself. He is, in my opinion, one of the greatest scientific villains of the last few decades.

It's worth looking at some figures.

In 1990, the project believed it would cost $3 billion and take 15 years to sequence the genome.

In 1998, Ventor believed it would cost $300 million and be done in five years.

Now, we have machines that can sequence the map of 1,800 individuals a year, at a cost of $1,000 per sample.

The march of this technology is absolutely fantastic.

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