Geneticist Runs Personalized Medicine Superstudy On Himself

By Jon Cohen, ScienceNOW

Michael Snyder has taken know thyself to the next level and helped heal thyself.

Over a 14-month period, the molecular geneticist at Stanford University in Palo Alto, California, analyzed his blood 20 different times to pluck out a wide variety of biochemical data depicting the status of his bodys immune system, metabolism, and gene activity. In todays issue of Cell, Snyder and a team of 40 other researchers present the results of this extraordinarily detailed look at his body, which they call an integrative personal omics profile (iPOP) because it combines cutting-edge scientific fields such as genomics (study of ones DNA), metabolomics (study of metabolism), and proteomics (study of proteins). Instead of seeing a snapshot of the body taken during the typical visit to a doctors office, iPOP effectively offers an IMAX movie, which in Snyders case had the added drama of charting his response to two viral infections and the emergence of type 2 diabetes.

Clinicians at the front of the movement to personalize medicine see Snyders self-analysis as a landmark. Cardiologist Eric Topol, who runs the Scripps Translational Science Institute in San Diego, California, calls the work a tour de force N of 1 report with remarkably comprehensive state-of-the-art omics from one individual. Topol recently published a book, The Creative Destruction of Medicine, that spells out how he believes the technologies Snyder tapped will create better healthcare. The way the field is moving in such an accelerated fashion, Topol writes in an e-mail, this type of pan-ar-omic study of individuals is now not only feasible but in select individuals with medical conditions, particularly useful clinically.

Scientists in Snyders field similarly praise him and his team for collecting and attempting to find the links at different time points between the 3.2 billion nucleotides of DNA in his genome and more than 3 billion fluctuations in his blood molecules such as proteins, metabolites, microRNAs, cytokines, antibodies, glucose, and gene transcripts. Its a visionary kind of approach, says Jan Korbel, a molecular virologist and cancer researcher at the European Molecular Biology Laboratory in Heidelberg, Germany. Daniel MacArthur, a genomics researcher at Massachusetts General Hospital in Boston, says the fascinating study is much more informative than simply looking at someones static genome sequence. (Snyders group decoded his at the beginning of the project.) The nice feature of this study is that it profiles many of the dynamic molecular changes that our body experiences in response to environmental stresses.

Snyder, now 56, says he began the study two years ago because of a slew of technological advances that make it feasible to view the working of the body more intimately than ever before.The way were practicing medicine now seems woefully inadequate, he says. When you go to the doctors office and they do a blood test, they typically measure no more than 20 things. With the technology out there now, we feel you should be able to measure thousands, if not tens of thousands, if not ultimately millions of things. That would be a much clearer picture of whats going on.

Snyder selected himself as the subject of this study for the most practical of reasons. He says he wanted someone local who could frequently give blood samples, and he also needed to make sure the person would not turn on his research group if devastating information surfaced. I wasnt going to sue myself, he says.

Snyder had a cold at the first blood draw, which allowed the researchers to track how a rhinovirus infection alters the human body in perhaps more detail than ever before. The initial sequencing of his genome had also showed that he had an increased risk for type 2 diabetes, but he initially paid that little heed because he did not know anyone in his family who had had the disease and he himself was not overweight. Still, he and his team decided to closely monitor biomarkers associated with the diabetes, including insulin and glucose pathways. The scientist later became infected with respiratory syncytial virus, and his group saw that a sharp rise in glucose levels followed almost immediately. We werent expecting that, Snyder says. I went to get a very fancy glucose metabolism test at Stanford and the woman looked at me and said, Theres no way you have diabetes. I said, I know thats true, but my genome says something funny here.

A physician later diagnosed Snyder with type 2 diabetes, leading him to change his diet and increase his exercise. It took 6 months for his glucose levels to return to normal. My interpretation of this, which is not unreasonable, is that my genome has me predisposed to diabetes and the viral infection triggered it, says Snyder, who acknowledges that no known link currently exists between type 2 diabetes and infection. He has become so convinced that this type of analysis is the future of medicine that last summer he co-founded a company in Palo Alto, Personalis, which aims to help clinicians make sense of genomic information.

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Geneticist Runs Personalized Medicine Superstudy On Himself