{"id":34791,"date":"2015-07-23T13:51:43","date_gmt":"2015-07-23T12:51:43","guid":{"rendered":"https:\/\/blogs.bmj.com\/bmj\/?p=34791"},"modified":"2015-07-23T14:42:42","modified_gmt":"2015-07-23T13:42:42","slug":"timothy-caulfield-genetics-and-personalized-medicine-wheres-the-revolution","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/bmj\/2015\/07\/23\/timothy-caulfield-genetics-and-personalized-medicine-wheres-the-revolution\/","title":{"rendered":"Timothy Caulfield: Genetics and personalized medicine\u2014where\u2019s the revolution?"},"content":{"rendered":"

\"tim_caulfield\"<\/a>This blog is part of a series of blogs linked with BMJ Clinical Evidence<\/a>, a database of systematic overviews of the best available evidence on the effectiveness of commonly used interventions.<\/em><\/p>\n

I started my academic career in the early 90s working on the policy issues associated with something called the \u201cgenetic revolution,\u201d which we were constantly told (by researchers, government, and the media) was just around the corner. As a result of this impending seismic shift, we needed to ready ourselves for all the profound social implications\u2014or so the story (and the arguments for grant money) went.<\/p>\n

Since then, the claims that we are in the middle of a genetic revolution have come at a steady pace, but the nature of alleged, near-future, healthcare transformation have evolved. First it was going to be gene therapy<\/a> (it didn\u2019t really pan out as planned). Then it was highly predictive disease genes (ditto). And now the revolution has taken the form of personalized medicine, also known as personalized genetics, personalized genomics or, in accordance with the latest semantic tweak, precision medicine.<\/p>\n

At times it feels like an uncoordinated and desperate scramble to find some kind of \u201crevolutionary\u201d application for a field that has received a great deal of public attention and research funding. Alas, as with the past promises of genetically driven paradigm shifts, personalized medicine seems just as unlikely to result in widespread revolutionary changes.<\/p>\n

Don\u2019t get me wrong. Good things will happen, knowledge will increase and new therapies will emerge. But there is little reason to suspect that the promised cost-saving<\/a>, life-extending, population-health-improving revolution will unfold as suggested by the many vocal advocates (who include researchers, media, research institutions and the President of the United States). And remember, what has been promised is a revolution<\/em> (which the Oxford dictionary defines<\/a> as a \u201cdramatic and wide-reaching change in conditions, attitudes, or operation\u201d\u2014a pretty high standard), not a slow and iterative evolution (AKA: how science usually works<\/a>).<\/p>\n

My favourite example of the disconnect between the rhetoric of revolution and, well, reality<\/em>, is in the realm of lifestyle change (this is a topic I\u2019ve written<\/a> about before). A key part of the push for personalized medicine is the belief <\/a>that genetic information will facilitate healthy lifestyle change. It will, as Obama suggested in his last State of the Union address, provide us all with the \u201cpersonalized information we need to keep ourselves and our families healthier.\u201d It will be empowering<\/a>, so says the Director of the National Institutes of Health, Francis Collins.<\/p>\n

The theory behind this \u201crevolutionary\u201d idea is that genetic risk information will cause us all to exercise more and stop eating too much. We\u2019ll quit smoking and drinking to excess. And we will discover what unique and special things we should do to stay healthy (answer: don\u2019t smoke, exercise, eat a balanced diet, watch your weight, wear your seatbelt, sleep). This is an idea that is absolutely everywhere. It is, for example, part of the marketing strategy for virtually every direct-to-consumer genetic testing company<\/a>. Get your genes tested, these companies promise, and you will feel the urge to start running with your dog.<\/p>\n

Unfortunately, there is absolutely no good evidence<\/a> to support the idea that providing genetic risk information will have this kind of revolutionary<\/em> impact. (And, by the way, nor is there evidence that it is needed\u2014see above noted parenthetical \u201canswer\u201d.) On the contrary, all the available research points in the opposite direction. Studies have found<\/a> that providing genetic risk information will not, long-term, help people quit smoking<\/a> or lose weight<\/a>. It will not encourage them to get cancer screening<\/a>. And, more damning, it will not help individuals at risk for diabetes<\/a> adopt a healthy lifestyle, even when that personalized, genetically informed advice is provided by experts. A 2013 study concluded<\/a>: \u201cDiabetes genetic risk counselling with currently available variants does not significantly alter self-reported motivation or prevention program adherence for overweight individuals at risk for diabetes.\u201d<\/p>\n

I could go on and on.<\/p>\n

To be fair, there are a few studies<\/a> that suggest behaviour can be tweaked, but the tiny effect size of these studies\u2014is so small and underwhelming that they can hardly be held up as an example of a healthcare \u201crevolution\u201d, especially since the body of evidence suggests otherwise.<\/p>\n

Yes, hype is a natural part of the scientific process. It can raise interest in a field and can help to build communities and mobilize needed resources. But the hype in this domain has been unrelenting. And many have noted that there are potential downsides<\/a>. It has been suggested, for example, that the hype in the biosciences may lead to, among other harms:<\/p>\n

\u2022 Unrealistic patient and public expectations<\/a>;
\n\u2022 The premature implementation and\/or overuse<\/a> of technologies;
\n\u2022 Inaccurate<\/a> public representations<\/a> of the state of the science;
\n\u2022 A misrepresentation of the value of a technology, and thus a co-opting of the \u201cpatient voice\u201d (as seems to have occurred with some screening<\/a> technologies);
\n\u2022 A less than constructive allocation of research resources<\/a>;
\n\u2022 The skewing of policy priorities away from needed public health initiatives<\/a>;
\n\u2022 The complication of healthcare funding decisions (e.g. “regulatory capture”);
\n\u2022 The confusion of ethical concerns and the associated policy debates (ethics hype<\/a>);
\n\u2022 And the facilitation<\/a> of a market for unproven products and services.<\/p>\n

So let\u2019s stop with the revolution language. And let\u2019s recognize the harm that it can do. This is not<\/em> a revolution in any reasonable sense of the word. This is science unfolding as science usually does. Slowly.<\/p>\n

Timothy Caulfield<\/strong> is a Canada Research Chair in Health Law and Policy at the University of Alberta, a Trudeau Fellow and the author of \u201cIs Gwyneth Paltrow Wrong About Everything?: When Celebrity Culture And Science Clash\u201d (Penguin, 2015). He would like to thank Tania Bubela, Chris McCabe, Robyn Hyde-Lay and Maeghan Toews for their comments on this piece.<\/em><\/p>\n

Competing interests:<\/strong> None declared.<\/p>\n","protected":false},"excerpt":{"rendered":"

This blog is part of a series of blogs linked with BMJ Clinical Evidence, a database of systematic overviews of the best available evidence on the effectiveness of commonly used […]<\/p>\n

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