A desktop machine not much bigger than a microwave that can in one day decode the entire three billion "letters" of the human genome for just US$1000 ($1260) 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 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 US$3 billion and taken hundreds of scientists many years to complete the first full genetic sequence of the human genome.
As automation has improved and the cost of computing fallen, DNA sequencing has also became much cheaper and faster. In 2009, the US$1 million 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 US$50,000.
Life Technologies, based in San Francisco, says its Ion Proton Sequencer, which costs US$149,000, can now do the job in a day for US$1000, bringing it closer to the costs and timescales of routine diagnostic tests.
If it becomes possible to sequence a person's entire genome in less than day and at a price that health bodies can afford, it could help doctors predict future problems by analysing the smallest DNA changes linked to chronic illnesses such as heart disease or Parkinson's.
"A genome sequence for US$1000 was a pipedream just a few years ago. A US$1000 genome in less than one day ... will transform the clinical applications of sequencing," said Richard Gibbs, director of the Human Genome Sequencing Centre at Baylor College of Medicine in Houston.