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19-03-2012 | Legal medicine | Article

Researcher’s own sequence demonstrates potential of personalized medicine

Abstract

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MedWire News: A researcher has taken a hands-on approach by conducting a longitudinal integrated personal omics profile (iPOP) analysis on himself, demonstrating a potential new direction for personalized medicine research.

Omics profiles combine transcriptomic data with genomic, proteomic, and metabolomic data, which Michael Snyder (Stanford University School of Medicine, California, USA) and colleagues say they expect to provide a deeper understanding of normal and diseased states.

In this study, published in Cell, the researchers determined the whole genome sequence, and transcriptomic, proteomic, metabolomic, and autoantibody profiles, which they used to generate an iPOP of Snyder, a generally healthy 54-year-old individual. This omics profiling of blood components was performed over a 14-month period, therefore adding a longitudinal dimension to the analysis.

Snyder contracted two mild viral infections during the data-collection period and was diagnosed with Type 2 diabetes. The researchers were therefore able to track the extensive changes in the omics profiles through healthy states and viral infection, and nondiabetic and diabetic states.

From analysis of Snyder's genome he was found to have a "significantly high" risk for developing diabetes, but had not previously experienced any symptoms. It was during one of the viral infections that he contracted during the data-collection period that his blood glucose levels approached those of a diabetes sufferer and he was subsequently diagnosed with Type 2 diabetes.

"I was not aware of any type-2 diabetes in my family and had no significant risk factors, but we learned through genomic sequencing that I have a genetic predisposition to the condition," said Snyder in a press release. "Therefore, we measured my blood glucose levels and were able to watch them shoot up after a nasty viral infection during the course of the study."

Snyder added that he has since made changes to his diet and exercise habits in order to keep his blood glucose levels under control.

The team says that this study shows there is a wealth of molecular components in the blood that can be measured and particularly demonstrates how this information can be applied for the purpose of personalized medicine, including monitoring, diagnosis, prognosis, and treatment.

"This study shows that diseases are a product of an individual's genetic profile as well as interaction with the environment," commented co-author Maria Blasco (Spanish National Cancer Center, Madrid, Spain) in a press release. "So far we know little about this correlation, while the use of human genome information to prevent and treat disease is still clearly in its infancy. But what we can see - the tip of the iceberg - is fascinating stuff."

By Chloe McIvor

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