A Stanford University professor has sequenced his entire genome in just two weeks, and for a cost of less than $50,000.
Professor Stephen Quake's team then evaluated his entire genome sequence for disease risks and unusual drug responses.
"Previous genome sequencing efforts... typically required 40 or 50 people, hundreds of thousands of dollars and quite a bit of equipment. What we've dome here is show that you can sequence the human genome with just a single machine and one person running it in a matter of a couple of weeks," says Quake.
"The way we sequenced my genome was to use a machine that allowed us to follow individual molecules as they're being Xeroxed by a little molecular machine called DNA polymerase."
The Stanford team compared Quake's genome to several databases of disease-related gene variants, and also factored in his medical and family history and statistical disease risks.
The analysis revealed variants associated with both diseases known to be present in Quake’s family - osteoarthritis, vascular disease and early sudden death - and other conditions, including iron overload and thyroid and parathyroid diseases.
Some variants suggested that he might have unusual responses to certain heart medications - relevant in light of his risk for cardiovascular disorders.
The authors say their work paves the way for whole-genome sequencing for individual patients.
"You'll be able to walk into your doctor's office, genome in hand," says Quake. "Before he prescribes you medicine, he'll look at your genome and see whether you'll respond to the medicine or not, whether you're likely to have have side effects and so forth, so it'll allow much better targeting of healthcare and hopefully help reduce costings by only doing tests where they're either neccessary or likely needed."