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Personalized medicine: behind the hype


When the human genome was mapped in the 90s, everybody from scientists to Silicon Valley CEOs believed it would revolutionize medicine by making it personalized. This carried enormous medical and financial opportunities, as well as ethical and legal challenges. But after decades of research, it has become evident that our genome is not nearly as predictive of disease as we hoped. Despite the hype, it is simply not feasible for our healthcare system to adopt widespread personalized medicine in the near future.

In the 90s and early 2000s, the American government funded the Human Genome Project—an international scientific effort that mapped all 3 billion base pairs in our genome. The project was meant to democratize genetic information for scientific research.  But it also became the foundation what we now call “personalized medicine”: the use of genomic data to tailor healthcare to each patient. Many thought this would revolutionize medicine. Francis Collins, leader of the International Human Genome Sequencing Consortium, surmised that by 2010, patients could be given prophylactic drugs based on their genetics to attenuate disease risk. Such hype lead pharmaceutical companies and investors to pour billions into genomic R&D, leading to what some have called a “genomics bubble”.

Unfortunately, personalized medicine is not feasible for most patients because most of our genome’s data is not useful clinically.  Research shows that most of the genetic variations that were thought to be associated with disease are neither causal, nor do they increase disease risk significantly. Further, there is clear evidence showing that non-genetic factors, such as personal behavior and environmental agents, are equally important to disease development.

In addition to the clinical utility, there is also the question of whether or not personalized medicine is economical—a critical consideration given the economic pressures on our healthcare system. Currently, are very few studies that analyze the tradeoff between how much personalized medicine costs and its impact on patients. One notable study done by the National Institutes of Health suggests that most personalized medicine tests raise healthcare costs but improve patient health. This leaves Canadian policy makers with several decisions to make: do they trust the current evidence and are how much are they willing to spend on personalized medicine? Until such questions are answered, they are likely to invest in more cost-effective alternatives.

Of course, there are additional challenges that make personalized medicine a daunting prospect, such as managing privacy and insurance discrimination; applying product regulations; and reimbursing providers. Personalized medicine is littered with ethical and legal questions that we as a society have to grapple with. For instance, should private enterprises have proprietary rights over natural property? Would it stifle research?  Legal cases are already being fought in the US, with recent decisions by federal courts striking down gene patents on the BRCA1/2 genes.

Now there are cases in which using genomic information to personalize care makes a lot of sense. Cancer, for instance, is a genetic condition unique to each patient, with many of the new drugs being based on the cancer’s genetic profile. Stroke patients who lack a specific mutation may not be able to metabolize the drug clopidogrel (an anti-clotting drug used in stroke). But again, these are limited populations who only require specific portions of their genomes sequenced to maximize therapy options.

I strongly believe that genomics is essential to advancing scientific knowledge, technological innovation, and care for certain patient groups. But this is a far cry from the widespread belief that personalizing medicine for every patient will become the mainstay of Canadian healthcare in the foreseeable future. Until the economics and clinical evidence says otherwise, we should be cautious in terms of how much we tout personalized medicine. In our constrained public healthcare system, the last thing we need is a genomics bubble siphoning resources away from more effective healthcare approaches.

Gagan is a medical student at McMaster University and a student researcher at the Centre for Health Economics and Policy Analysis.

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  1. Matthew Schroeder

    As long as genetic information is used appropriately, not discriminatively, we can taylor drugs to specific genetic patterns and possibly achieve better outcomes.

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