Sequencing the first human genome cost billions and required an
army of scientists, but now a trio of researchers in the United
States have matched that feat for the price of a mid-range BMW,
according to a study published Monday.
"This can be done in one lab, with one machine, and at a modest
cost" of about 50,000 dollars (36,000 euros), said Stanford
University professor Stephen Quake, who designed the study and lent
his DNA for the task.
At the close of the 20th century, piecing together a complete
map of a genome -- the blueprint of human life itself spread across
three-billion pairs of molecules -- was the all-consuming Manhattan
Project of biotechnology.
The achievement, unveiled in draft form in 2001 and finished in
2003, was hailed as one of humanity's major scientific
Since then, sequencing "has become an order of magnitude cheaper
and faster" every couple of years, said Lynda China, a medical
researcher at the Dana-Farber Cancer Institute in Boston.
In 2007, the firm 454 Life Sciences did it in under three months
and for less than a million dollars.
In September that year, scientific maverick Craig Venter
published his own complete DNA code, the first of a single
individual rather than an amalgam from multiple sources. Cost: not
Last year, the price dropped to a quarter of a million, but
still needed the input of dozens of experts.
The new breakthrough, reported in the journal Nature
Biotechnology, has become the latest benchmark.
Even if only a dozen or so individual genomes have been
sequenced to date, the process is on the verge of becoming
commonplace and could, within a few years, cost even ten times
One biotech start-up, Pacific Biosciences in Menlo Park, vows
that by 2013 it will be able to unpack a complete DNA in a quarter
of an hour for under a thousand dollars.
A legion of potential applications are driving the research,
ranging from "personalised medicine" tailored to your genetic
profile, to exploring the earliest dawn of human evolution in the
DNA of our ancestors' fossils.
Quake discovered, for example, that he carries a rare genetic
mutation associated with a heart disorder.
He also learned that he is likely to respond well to
cholesterol-lowering statin drugs that could help prevent heart
Complete sequencing is not to be confused with the gene kits
offered by companies such as 23andMe or deCODEme, which offer only
snapshots of DNA, not the whole shebang.
"It's really democratising the fruits of the genome revolution
and saying that anybody can play in this game," Quake said in a
Using a single fridge-sized machine and a process called single
molecule sequencing, Quake and his colleagues diced up the more
than three billion molecular pairings of the human DNA into
millions of strands.
The four molecular building blocks of DNA are adenine (A),
cytosine (C), guanine (G), and thymine (T).
The machine read each strand with the help of florescent
markers, and then its powerful computers reassembled them back into
a cohesive genome.
"It's like assembling an enormous jigsaw puzzle by referring
frequently to the picture on the box," Quake said, alluding to the
reference genome held by the US National Center for Biotechnology
Overall, Quake's genome is 95 percent complete, on a par with