Personal genomics

Will the day come when everyone has their genome sequenced?

In 2007, James Watson and Craig Venter became the first people to have their genomes fully sequenced. As the cost of DNA sequencing has plummeted, the potential for 'personal genomics' becomes ever greater.

New technology and procedures that allow lots of DNA to be processed quickly have substantially reduced the cost of DNA sequencing. To spur further advances, a US Government funding agency is supporting '$1000 genome' projects - developing technologies that can fully sequence a human genome for just $1000 US. Another incentive is the Archon X Prize for Genomics, which is offering $1m US for the first people to sequence 100 genomes in 10 days for less than $10 000 US each.

Even now, if you have a few hundred thousand dollars to spare, you can pay for your genome to be sequenced by the US company Knome. Three other companies - deCode Genomics in Iceland and 23andMe (linked to Google) and Navigenics in California - are offering detailed genome-wide analyses to consumers.

So personal genomics could soon be a reality. But how useful is it likely to be?

Some people may want to know their genome sequence just for the hell of it - spawning a new field of 'recreational genomics'. Others may want information about their susceptibilities to particular conditions.

Critics fear that consumers will gain a huge amount of information of little value - the impact of most DNA variation is small or unclear. And future advances in research could mean people end up discovering things that they might not have wanted to know. An editorial in the influential medical journal the New England Journal of Medicine in January 2008 pointed out that personal genomic information offers essentially no medically-useful information at the moment.

With the field developing rapidly, it is hard to know how things will play out. Until the links between DNA variation and human biology are more fully worked out, a personal genome sequence provides lots of data but not much information.

In the longer term, though, it might make sense to produce a personal genome sequence for each infant, rather than run tests every time a medicine is prescribed. We all carry a copy of our genome in our cells. Maybe one day we may also carry a copy etched into a 'smart card' too.


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