The last few months have seen the brave new world of personal genomics thrown into a state of turmoil, as the might of US federal regulators turns on this fledgling industry. There is no question that some level of regulation would be welcomed, to iron out the irregularities and squeeze out the fraudsters. But hidden somewhere in amongst the hype and the scaremongering are some real gems that we should not abandon lightly. Take note, please, Mr Regulator.
Some of the recent crop of consumer genomics companies are true innovators, pioneers attempting to navigate the treacherous complexities of modern human genetics. Their attempts at presenting complicated genomic and risk information in an accessible form have been exemplary. Is the information useful? For the most part, no. Is it harmful? Again, so far the answer is a resounding no. So what’s the problem? Speaking to numerous individuals who have had their genomes scanned reveals that most are notably under-whelmed by the experience – they didn’t learn much of direct use, and they haven’t changed their lifestyles. But individuals are free to chose to purchase these tests, or not, and to decide for themselves whether it is worth parting with their hard-earned cash.
Part of the quandary lies in the health claims that the companies make. Claims of a healthier lifestyle, motivated by genetic risk information. Claims of empowerment, prevention and self-betterment. Lurking in the terms and conditions lies the truth – these products are not a substitute for medical advice, they are not diagnostic, and individuals should not change their behaviours based on these tests. No wonder physicians and medical device regulators are concerned! Ultimately there may be benefits and there may be harms, but there is no excuse for misleading consumers by making false or unsubstantiated claims.
But perhaps companies are professing the wrong things. I don’t really feel “empowered” by knowing a few of the billions of As, Cs, Gs and Ts in my genome, or how they alter my risk of disease relative to the rest of the population. But learning about one’s genome, engaging one’s own data, is undoubtedly a voyage of discovery. It is an exploration of science, of genetics, and finally of one’s self. Did everyone who had one of these tests know beforehand that their lifetime risk of type 2 diabetes is around 1 in 5, or that more than 1 in 8 of us will develop a hormone-related cancer (breast or prostate)? We all could have known that easily enough – just a quick visit to any number of official disease statistics websites would have imparted the same information, but no one is trying to ban those! Did everyone know beforehand the difference between Mendelian and complex disease genetics, or the difference between relative and absolute risk? Did everyone know their own ancestral genetic background and how it compares to their relatives?
Currently, personal genomics does not offer a gateway into personalised medicine. If you are concerned about a particular disease, at least for now, the advice hasn’t changed: go to your doctor. But if you are interested in exploring your own genome, and the role it might play in your life, then consumer genomics is for you. By getting people personally involved in data analysis, and grappling with complex scientific ideas and medical realities, personal genomics services offer us a glimpse into the elite world of modern science. And for that they should be congratulated.
For years, academics and policy-makers have extolled the virtues of public education and participation in science, but with limited success. What if personal genomics offers a new way to involve and interest people? To deny individuals this chance to participate in one of the greatest scientific revolutions in human history, simply because of concerns over unproven harms and latent misunderstandings, would not only be paternalistic, but undemocratic, unscientific and unwarranted.
We are explorers. So please, Mr Regulator, let us explore.