A desktop machine not much bigger than a microwave cooker that can in one day decode the entire three billion "letters" of the human genome for just $1,000 (£650) has been built, an American biotechnology company has announced.
The breakthrough is a milestone in bringing nearer the possibility of routinely sequencing a person's entire DNA in order to identify, and possibly correct, genetic defects that could lead to disease or death.
It also raises the question of who should have access to the results of such routine testing. In addition to doctors and their patients, insurance companies or employers may also have a vested interest in knowing about a person's genetic predispositions.
The cost of sequencing the three billion letters of the human genetic code has tumbled since the first genome was published a decade ago. It had originally cost $3bn (£1.9bn) and taken hundreds of scientists many years to sequence the first full genetic sequence of the human genome.
As automation has improved and the cost of computing fallen, DNA sequencing also became much cheaper and faster. In 2009, the $1m genome was announced and a year later, in 2010, a scientist announced that he had deciphered his own genome for the then record low cost of $50,000 (£31,000), the price of a sports car.
Life Technologies, based in San Francisco, went one better yesterday saying that its Ion Proton Sequencer, which costs $149,000, can do the job in a single day for just $1,000, bringing it closer to the costs and timescales of routine medical diagnostic tests.
If it becomes possible to sequence a person's entire genome in less than day and at a price that the NHS can afford, it could help doctors to predict future problems – perhaps in childhood – by analysing the smallest DNA changes linked to chronic illnesses such as heart disease or Parkinson's.
"A genome sequence for $1,000 was a pipedream just a few years ago. A $1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing," said Richard Gibbs, director of the Human Genome Sequencing Centre at Baylor College of Medicine in Houston, one of machine's first customers.Life Technologies said that its Ion Proton Sequencer uses radically different technology than traditional DNA sequencing machines.
Case study: I found out I was carrying Parkinson's
When Greg Lucier decided to try out the genome-reading machines made by his company Life Technologies, the results were more startling than he had ever imagined. Not only did they reveal he was carrying a gene that he had passed on to his daughter which increased the risk of her getting breast cancer – potentially saving her life by alerting her to the importance of regular screening – they also showed that he was carrying a mutation of a rare form of Parkinson's disease, helping to explain the mystery illness his mother was suffering from.
"Our understanding is increasing at an incredible pace," he said of the difference genome-reading was making to healthcare. "This is how medicine is going to change."