(03-15) 09:13 PDT STANFORD -- A team of Stanford researchers unveiled today the most detailed biological profile of a human being done so far: a peek at one man's genetic foundation, along with snapshots, taken dozens of times over the course of a year, of the millions of proteins and other molecules that are in constant flux in his body.
In a stroke of shocking good luck - for the scientists, if not necessarily the patient - the profile subject developed Type 2 diabetes during the study, allowing researchers to follow in real-time the molecular changes that take place as the illness progresses.
It also allowed the subject, Stanford geneticist Michael Snyder, to catch his diabetes early and stop it, most likely months or even years before he would have been diagnosed without the genetic profiling.
"This is the first time someone's actually analyzed the genome of a healthy person, predicted disease risk, and then by following him, actually saw a disease develop," said Snyder, who in addition to being the subject of the study was also the senior author.
Snyder's profile and an analysis of the results will be published Friday in the journal Cell. Snyder, chairman of the genetics department at Stanford, is not named in the published study due to privacy rules, but he volunteered to identify himself.
The research provides some of the first proof that detailed genetic profiling - beyond just DNA sequencing - could be used someday to not just predict an individual's chances of developing disease, but identify the smallest molecular changes that show when a person starts to become ill, Snyder and his colleagues said.
The first human genome - a map of all of the DNA in a human cell - was announced in 2000. Seven or eight years later geneticists began mapping the genomes of specific individuals. Such personal genomic sequencing is expected to become widely available later this year, at a cost of several thousand dollars.
Using genetic information to help diagnose and treat patients is still a very new field, although it's growing rapidly. Certain key genes have been found to greatly increase the risk of breast cancer, for example, or the deadly Huntington's disease, and doctors will regularly test for those genes when someone is diagnosed with an illness or when a close family member is known to have a disease.
But for most people, DNA sequencing and other biological profiling isn't yet useful - subjects would end up with a lot of unwieldy information that is mostly beyond modern scientific understanding or far too expensive to analyze.
The Stanford research doesn't change the hurdles to biological profiling, but it does prove that there's value in such profiling if it can be made practical and cost-effective, Snyder said.
Original post:
Stanford man's genetic profile yields surprises