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.
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I think that you make an excellent point. I may be overly preoccupied by semantics here, but I do find it interesting that you make a distinction between “empowerment” and “self-knowledge” on the one hand, and the benefits of consumer genomics you outline on the other. I would argue that offering the public an independent interface with the new realm of genomics IS empowering and does contribute to self-knowledge. Taking a long view, this may be the among the most important roles of these companies –that they help transform our healthcare system into one in which personal understanding and agency emerge as more common features of patient-provider interactions. Might they even help to close the gaping deficit in most public school science curricula? Perhaps that’s taking it a bit far.
Not altogether different from what you’re saying–just a reflection.
Yes, I see your point! I think what I meant with “self-knowledge” would be better expressed as “self-betterment” so I’ve amended that. I’m still not convinced that the information is really very empowering, as it doesn’t offer you the chance (or, in most cases, the motivation!) to do something you couldn’t do before, nor does it give you any greater authority over, or responsibility for, your own health.
I agree that this kind of information MIGHT ultimately transform healthcare, though I personally have my doubts about how universal that could, should or will ever be.
Yes, that last point is a good one. I too am concerned that existing access issues will bifurcate/stratify the allocation of any benefits that do arise. But I think that’s probably the subject of another post!
Mostly the health related information seems quite bland because a) we don’t know all the variants or enough about them, b) how gene x gene interactions affect risk, c) ditto gene x environment, and d) because most of us will be in or around the average risk anyway.
There are those though who for some diseases have an apparently high genetic risk, a very good example of this is Blaine Bettinger and his diabetes risk plus family history. This DID motivate him to change his lifestyle and to good effect according to subsequent posts and tweets.(Blaines post, well worth a 2nd, 3rd or 4th read is at bit.ly/4Bnysh, and Daniel also commented at bit.ly/bXXk0e)
So overall I agree with you, “for the most part” not terribly useful in a direct health benefit way, but I think, as you seem to be saying, that there are indirect health benefits through simply learning about the processes of genetics, environment and health. Of course you can get this information from many other places but the crucial difference is that here it is about you – you will read it again and again and with much more attention. This is another type of motivation – even though the GAO expert (Dr James Evans) claims that the motivation claim is fantasy (Evans clearly is a medical genetics expert but equally clearly is not a personal genetics expert, it’s a pity that the GAO did not find one to provide balance).
The other crucial thing you say is “Is it harmful? Again, so far the answer is a resounding no”. There is an ever growing number of personal testimonies on the internet about personal genetic testing (boosted I think by the $99 offer of 23andME!), plenty postive, some are underwhelmed, some disapoointed, but no reports of harm. The anti-DTC brigade have been shouting potential harm for nearly 10 years now, and you can be sure that they have been searching for it, and would have shouted it from the roof tops had they found it (viz Rob Stein vain attempt to find negative testimony – bit.ly/crnWPq ).