Wednesday, February 8, 2012

Big Wide World - Passing the baton: what I've learnt during my PhD

Linda Geddes, reporter
In The Creative Destruction of Medicine: How the digital revolution will create better health care, geneticist Eric Topol argues for personalised medicine

BY THE end of this book, geneticist Eric Topol explains his intent has not been to provide a "techno-tour" of how the digital revolution will change healthcare. From the title, that's what I had expected. Instead, I got an eye-opening account of why conventional medicine is doomed.
According to Topol, modern medicine's focus on the population rather than the individual may be damaging our health. He describes how mass screening for breast or prostate cancer often falsely identifies people who don't have the disease, leading to unnecessary interventions and worry, and how Plavix, an anticoagulant that is the second-most prescribed drug in the world, is ineffective in 30 per cent of people and can even raise their risk of blood clots.
It's compelling stuff. Even if they don't cause harm, drugs often don't benefit most of the people who take them. Take Lipitor, a statin advertised as reducing the risk of heart attack by 36 per cent. Pfizer isn't lying with this claim, but closer reading reveals 2 per cent of patients taking Lipitor had heart attacks, compared with 3 per cent taking a placebo - or just 1 in 100 people will avoid a heart attack by taking the drug. Topol slaps you in the face with facts like these and shouts: "wake-up!"
The answer, he says, lies in technologies that tailor medicine to the individual - something that has long been talked about, but which is finally almost within reach. Almost, because although Topol tells some incredible tales of individuals with unexplained diseases having their genomes sequenced to find a cure, they remain in a minority. Individualised medicine for the masses is still a long way off, and although Topol provides a seductive vision of the future, he is vague on just how we get there.
That aside, the book provides an excellent summary of the current state of medical genetics and how fast it is progressing, with examples that may surprise even those working in medicine. As director of the Scripps Translational Science Institute in La Jolla, California, Topol is clearly abreast of the very latest developments, and the book feels extremely current.
The lay reader may struggle with some of the terminology in places, but if you can get through that, the book provides some practical tips on what to do if you or a loved one is diagnosed with a serious illness. I learned how to use Google Scholar to seek out expertise (type in the name of the condition to find the top-cited articles, then contact the senior author) and what tests I might demand if I was diagnosed with cancer (paired-exome or whole genome sequencing to better target therapies to the tumour). Whether I could afford such tests, or the health system would provide them, is another matter. But if enough people ask for them, just maybe the revolution Topol envisions will take hold.

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