A team of Stanford researchers has unveiled 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 took place as the illness progressed.
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 the senior author.
Snyder's profile and an analysis of the results were published today in the journal Cell. Snyder, chairman of the genetics department at Stanford, is not named in the published study because of 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 not just to predict an individual's chances of developing disease, but also to identify the smallest molecular changes that show when a person starts to become ill, said experts in personalized medicine.
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 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.
"What they did (at Stanford) is much more interesting from a scientific basis than a practical basis," said Dr. David Witt, a medical geneticist at Kaiser San Jose. "And that gets to the heart of personalized medicine: It's not ready for prime time."
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Stanford man's genetic profile yields surprises
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