19 March 2012
ByAppeared in BioNews 649
Personalised medicine doesn't get much more personal than this. For more than two years, researchers at the Stanford University School of Medicine have been focusing on one person's genetic profile - that of their colleague and fellow geneticist, Dr Michael Snyder.
As well as a very detailed genome sequence, this profile includes snapshots of Dr Snyder's other 'omes' - his RNA (transcriptome), all his protein (proteome), his immune cells and antibodies (immunome) and all his cell metabolites and signalling molecules (metabolome) - and has been nicknamed the 'integrative personal omics profile', or iPOP.
The study also allowed him to monitor his health, and using his genetic profile identified his likelihood of developing disorders like high cholesterol and heart disease. However, one, his risk of type II diabetes, came as something of a surprise.
'I was not aware of any type II diabetes in my family and had no significant risk factors', said Dr Snyder. 'But we learned through genomic sequencing that I have a genetic predisposition to the condition. 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'.
Continued profiling of his cells showed that not only had his blood glucose levels gone awry, but that his insulin levels had increased. It was then he was diagnosed with and treated for type II diabetes, long before it would have been spotted under normal circumstances.
'A criticism of this paper is that it's anecdotally about one person, but that's also its strength', Professor George Church of Harvard Medical School in Boston, Massachusetts, who was not involved in the study, told Nature. He suggested that studies of individuals, rather than large groups may be more useful, as the larger studies often 'lump together an enormous number of people that don't necessarily belong together'.
According to the researchers, whose research was published in the journal Cell, this kind of monitoring could become commonplace, and could save money long-term by preventing disease, or allowing it to be treated earlier.
'The way we do medicine now is woefully inadequate. You go to a doctor's office and they measure less than 20 things,' Dr Snyder told the San Francisco Chronicle. 'We should be measuring thousands if not millions of things. In my case we followed tens of thousands of things at a level that nobody's ever seen before. I think that will be the future'.
However, the costs would have to fall dramatically to make this practical. As Dr David Witt, a medical geneticist at Kaiser San Jose said to the San Francisco Chronicle: 'What they did is much more interesting from a scientific basis than a practical basis. And that gets to the heart of personalised medicine: it's not ready for prime time'.