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The human genome – now done in a day

19 Mar, 2012

A genome sequencer can now produce a personal human genome in a day at a cost of NZ$1199, but a shortage of analysts means our ability to analyse the data from the genome lags behind.

13 years for the first sequenced human genome

When the first human genome was sequenced a decade ago, the published 3 billion letters of the human genetic code represented 13 years of work by an international team of hundreds of scientists and thousands of computing hours and cost approximately US$3.8 billion. Now, a machine the size of a household microwave oven can bash out your personal human genome in a day for US$1000 (NZ$1199).

Ion Proton Sequencer

The eagerly anticipated genome sequencer called the Ion Proton Sequencer was unveiled early in 2012 at the Consumer Electronics Show in Las Vegas and is the work of international biotechnology company Life Technologies (which also has offices in Christchurch and Auckland). The company is selling the machine to labs throughout the world with a US$149 000 price tag, and prophets within the industry now say the near future holds even cheaper and instant hand-held genome sequencers. For the customer, it’s like trying to pick when to buy a TV or home computer –  a better one will be on the market shortly.

Reduced cost for a genome sequence

One commentator in the US, Professor Atul Butte at Stanford University School of Medicine, told the Northwestern University publication MEDILL Reports – Chicago that we’ll eventually head to a zero-dollar genome. “You could imagine a negative genome in the future where the insurance pays for your genome sequence.”

Even 3 years ago, a human genome cost approximately US$1 million to sequence. Then, in 2010, thanks to advances in chip design and computing power, the cost dropped to a record low of US$50 000. Several researchers have commented that this latest technology will “revolutionise” the industry and transform clinical applications of sequencing.

Interpreting the genome still in research phase

However, many warn that, despite the advances in the technology, our ability to analyse the data lags behind, with genome analysts and medical geneticists woefully thin on the ground. Organisations such as the National Human Genome Research Institute are working to create a database of genetic variants that are linked to known diseases, such as heart disease or Parkinson’s, but interpreting the genome is still very much in the research phase, with any clinical applications a long way off.

Genome sequencing manipulation

The grail being offered to the public is a future where the routine sequencing of one’s DNA will identify, and possibly correct, genetic defects on an individual level – preventing early death and disease. However, there are other interested parties whose motives may not be so pure. As touched upon by Professor Butte, insurance companies and employers may have a vested interest in knowing a person’s genome – in short, is the person predisposed to getting sick and/or dying, making them a bad investment? It is only a short step from here to imagining a world like that portrayed in the film Gattaca, where citizen Vincent belongs to a new underclass, no longer determined by skills, social status or the colour of your skin but by genome sequencing and manipulation.


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