By Helen Wallace

Companies are competing to sequence your genome as quickly and as cheaply as they can. We are promised this will usher in a new era of "personalized medicine" which takes account of individual genetic differences. In this vision of the future, both the prevention and treatment of disease will be tailored to the individual and we will all live longer, healthier lives.

Against this vision is set a series of concerns about the potential for surveillance and categorization of ordinary citizens to an extent that is currently unprecedented. If everyone has their genetic sequence stored in a database, this allows them to be tracked using the sequence as a unique identifier which is left on coffee cups and wine glasses wherever they go. It also allows their relatives to be identified and non-paternity to be exposed. Genetic categories could also lead to stigma or discrimination.

Most debates try to weigh the pros and cons of better health versus possible misuse, and either propose safeguards such as high standards for data protection and anti-discrimination legislation, or simply claim the benefits will outweigh the harms. Too little attention, however, has been paid to the claims that genetic differences are important to an individual's health and whether "personalized medicine" really can deliver what is claimed. These claims are rooted in the history of the Human Genome Project and the role of corporate interests in promoting this worldview.

Back in 2000, the draft of the human genome was announced to great fanfare by President Bill Clinton and UK Prime Minister Tony Blair. Their claims were based on a major speech - the 1999 Shattuck lecture - in which Francis Collins, then head of the Human Genome Project in the U.S., described a hypothetical future in which, by 2010, a healthy 23-year-old college graduate gives a cheek-swab of DNA to his doctor and receives a battery of genetic tests to assess his genetic risk of colon, lung and prostate cancer, heart disease and Alzheimer's disease, leading to a regime of new prophylactic drugs, annual colonoscopy and the motivation to quit smoking. These claims have underpinned billions of dollars of investment in genetic research, sequencing technology, and in building vast databases and biobanks intended to deliver these predictions.

However, this idea does not stand up to scrutiny. Most geneticists now admit that the predictive value of individual differences between people's genomes is low for most diseases in most people. While there are many genetic disorders caused by a single mutation, and many common diseases have relatively rare familial forms in which mutations can play a major part, the claim that useful genetic risk predictions can be made for most diseases in most people has turned out to be flawed.

How did we get into a situation where erroneous claims have underpinned so much public spending and R&D investment?

The answer, to those who delve into its history, is shocking, although not totally surprising. Collins' story that genetic screening individuals for their risk of lung cancer would motivate them to quit smoking comes straight from the tobacco industry.1 In the run up to the Human Genome Project, the project's scientific advocates struggled to convince governments in Britain and the USA that it would have industrial applicability, a new requirement for scientific research being emphasised by the Thatcher and Reagan governments. They overcame this by shifting the aim of the research away from the original proposal (which was based on looking for genetic damage caused by radiation) back to an old idea: that inherited genetic risk, rather than environmental factors or genetic damage, was the key to understanding diseases such as lung cancer. Known as the "constitutional hypothesis," this idea was first promoted by the eugenicist Ronald Fisher, who became a tobacco industry consultant in the 1950s. He argued that genes existed which made a person both more likely to smoke and more likely to get lung cancer, thus making the statistical link between smoking and lung cancer a mere coincidence. The tobacco industry also used Fisher's theory to lay the foundations of behavioral genetics: funding the hunt for the genes for smoking behavior as well as for lung cancer.2

Over time, as it became more and more difficult to deny tobacco smoke as a causal factor for lung cancer, the aim became to use genetic screening as a means to target smoking cessation measures at a "genetically susceptible" minority. The story was that "only" one in ten smokers gets lung cancer, therefore there must be a gene or genes which would enable these individuals to be identified in advance, allowing the rest of the population to "smoke with impunity." When senior researchers at the U.S. National Institutes of Health endorsed this theory in the New York Times, the industry's research body, Council for Tobacco Research, was ecstatic, claiming this was "vindication" of their multi-million dollar research strategy. In Britain, Sydney Brenner, who later won a Nobel Prize, set up the Human Genome Organisation (HUGO) to lobby for the funding for the Human Genome Project straight after a secret meeting with British American Tobacco (BAT). Brenner used his position at the Medical Research Council (MRC) to jointly fund work with BAT hunting for the genes for lung cancer, which published numerous spurious results.

This was the beginning of a major shift in the role of epidemiology, away from seeking to identify causal environmental factors which might be reduced or removed, towards seeking genetic factors which could not be removed but which could be used instead for a different aim: individual risk prediction. The tobacco industry's research agenda pleased a lot of other corporate interests too, including the nuclear and chemical industries which preferred the idea of targeted measures based on individual genetic susceptibility to controls on exposures to hazardous chemicals or radiation. The food industry leapt on the idea, and used it to start a race to find genes for hypertension and type 2 diabetes, arguing that only a minority of people needed to eat less salt or sugar, so prevention should be personalized, not focused on their products.3 Following the success of statins - a lucrative mass market drug largely prescribed to people who are not ill - the idea that everyone could be classed as at high genetic risk of one or more big killer diseases was backed by Big Pharma too. Some predictions suggest the drug market could double if everyone has their genome sequenced. New markets are also expected to open up for so-called functional foods (such as cholesterol-lowering margarines), supplements and other medical tests and treatments sold to healthy people to 'treat' their genetic risks.

Thus, preventive health has become about creating lucrative new markets, rather than about restrictions on unhealthy products or pollution. Whether these markets will be created in practice will depend on whether individuals choose to allow their genomes to be used for personalized marketing, or whether sequencing can be brought in through the backdoor using public subsidies, for example by using babies' blood spots taken at birth.

Should health policy and R&D investments really be determined by the eugenicists who went to work for the tobacco industry all those years ago and by the long string of commercial interests endorsing this approach? Or does preventing cancer, obesity and other illnesses need a renewed focus on environmental clean-up, tackling inequalities and improving diets? The bottom line is that the major differences in life expectancy around the world have little to do with biology at all, let alone genetics. But that's not something those with vested interests want to hear about.


Helen Wallace is Director of GeneWatch UK.


1. Wallace HM (2009) Big Tobacco and the human genome: driving the scientific bandwagon? Genomics, Society and Policy, 5(1), 80-133.

2. Gundle KR, Dingel MJ, Koenig BA (2010) 'To prove this is the industry's best hope': big tobacco's support of research on the genetics of nicotine addiction. Addiction, 105, 974-983.

3. GeneWatch UK (2010) History of the Human Genome. June 2010.

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