Whole genome sequencing has been touted as the cornerstone of personalized medicine for a few years now. But Stanford geneticist Michael Snyder, PhD, has his eye on an even bigger prize -- an ongoing, dynamic look at the thousands upon thousands of biological processes that make us all tick. Over time, the analysis generates billions of bits of data that together paint a picture of our health status.
Using the technique on himself, Snyder not only discovered that he was predisposed to diabetes, but he was also able to watch himself develop the disease during the course of the study. By changing his diet and exercise, he was able to bring the disease under control long before it would have ever been diagnosed with traditional methods. It's a kind of 'ultra-personalized medicine' that stands to turn our ideas of health care on end. The research was published today in Cell.
From our release:
...while the predictive power in genomic information is due in part to its static nature — because it doesn’t change over time, a one-time analysis can hint at future events — our bodies are dynamic. They use our DNA blueprints to churn out RNA and protein molecules in varying amounts and types precisely calibrated to respond to the changing conditions in which we live. The result is an exquisitely crafted machine that turns on a dime to metabolize food, flex our muscles, breathe air, fight off infections and make all the other little adjustments that keep us healthy. A misstep can lead to disease or illness.
The researchers called the unprecedented analysis an iPOP, for "integrative personal omics profile". The word "omics" refers to the study of a body of information, such as all the proteins in a cell at a given time (proteomics) or all the RNA transcripts (transcriptome). And:
The researchers say that Snyder’s diabetes is but one of myriad problems the iPOP can identify and predict, and that such dynamic monitoring will soon become commonplace. “This is the first time that anyone has used such detailed information to proactively manage their own health,” said Snyder. “It’s a level of understanding of health at the molecular level that has never before been achieved.”
The concept is fascinating. Snyder donated blood for analysis at regular intervals over the course of several months, about once every two months on average and more frequently when he was sick. He and his lab members were able to watch his protein and RNA levels and many other biological measurements vary from one time point to another:
The exercise was in stark contrast to the cursory workup most of us receive when we go to the doctor for our regular physical exam. “Currently, we routinely measure fewer than 20 variables in a standard laboratory blood test,” said Snyder, who is also the Stanford W. Ascherman, MD, FACS, Professor in Genetics. “We could, and should, be measuring many, many thousands.”
The effect is like zeroing in on an anthill with a magnifying glass rather than stepping over it in the grass. As the patterns of foraging and scurrying begin to emerge, it becomes easier to notice deviations from the norm. When you're the study subject, it can also make being ill feel strangely productive. As Snyder explained during our first meeting, rolling up his sleeve to show me the cotton covering the site of a recent blood draw:
I have two small children, so I catch things from them. As a matter of fact, I'm getting sick now. But at least I'm getting some good data.
Previously: Whole genome sequencing vaults into the clinic and New Stanford Genomics Center to bring personalized medicine to patients