Fostering public engagement in the ethical and social implications of genetic technologies

23andMe: Screening a Personalised Medicine Company for Ethical Problems

With the information that our genomes hold we can make better decisions and be more proactive when it comes to our health. We can now personalise medicine.

23andMe, the Google-backed personal genetics company, are working towards exactly that. According to their co-founder, 23andMe promises nothing less than to revolutionize health care. They have certainly made an impression: since launching their Personal Genome Service in 2008 (initially costing £636, now £125), 23andMe has received Time magazine’s Invention of the Year award and amassed 650,000 genotypes from customers – the largest single collection of DNA in existence.

But their revolution has not gone entirely as planned. With controversy following controversy, last November 23andMe were forced to stop selling their genetic testing products in the US. Consequently they have explored the possibility of marketing their products in more congenial legal settings, and to that end 23andMe last week launched its home DNA Collection Kit in the UK.

More than anywhere else in the world, the flag for personalised medicine is being flown at full mast in the UK. And so, in keeping with this trend 23andMe’s DNA Collection Kit was reviewed and approved by a UK Research Ethics Committee, despite the ban in its native country.

So what is it? Customers send a saliva sample to 23andMe’s lab in the Netherlands, where, rather than sequencing an entire genome (which is between ten and thirty million genetic variants), they compare common differences in known genes. Using a gene chip from Illumina, they provide ancestry information and an individual risk assessment for illnesses including breast cancer, Parkinson’s disease and cystic fibrosis.

At face value this sounds harmless enough. However, questions have long been raised about the validity of the Personal Genome Service. In 2011, a group of Dutch and American academics voiced concerns about the scientific credibility of 23andMe’s methods. Just last week Dr Ewan Birney, associate director of the EMBL-European Bioinformatics Institute in Cambridge, similarly noted that what 23andMe offer is based on “very small shifts of risk, which are better served by simply living healthier and getting more exercise”.

Such assessments were reached independently of 23andMe’s long-running battle with the US Food and Drug Administration (FDA). As 23andMe specifically advertised their service as a first step in prevention” that enables users to “take steps toward mitigating serious diseases the FDA classified it as a medical product – one which failed to comply with the relevant regulations. This concluded in November 2013 with in a ‘warning letterissued by the FDA to 23andMe, stating: “We still do not have any assurance that the firm has analytically or clinically validated the Personal Genome Service for its intended uses”. The letter ended with an order to “immediately discontinue marketing the PGS [Personal Genome Service] until such time as it receives FDA marketing authorization”.

So, rather than overcoming the legal hurdles faced in the US – or indeed, making the science more robust – 23andMe decided to offer their Personal Genome Service elsewhere. And, as stated, the UK proved fertile ground, resulting in last week’s launch of the Personal Genome Service – now re-branded as the DNA Collection Kit.

With its own plans to integrate personalised medicine into mainstream healthcare, Britain has ambitions grand enough to match those harboured by 23andMe. NHS England has plans for a national genomic database, of which the data of 100,000 patients collected under the 100,000 Genome Project (due to complete in 2017) is just the pilot stage. And, just like the 100,000 Genome Project, 23andMe’s Personal Genome Service/DNA Collection Kit is part of a much bigger picture. The DNA Collection Kit is merely the initial phase in the collection of a massive amount of genetic data. According to Patrick Chung, a 23andMe board member and partner at the venture-capital firm NEA, “the long game here is not to make money selling kits, although the kits are essential to get the base level data. Once you have the data, 23andMe does actually become the Google of personalized health care”.

We already know that genetic data combined with relevant phenotypical information is a precious commodity, not least for Big Pharma. As things stand, 23andMe’s database of 650,000 genotypes is just the start: the desired figure, according to co-founder Anne Wojcicki is 25 million. Once “you get 25 million people, there’s just a huge power of what types of discoveries you can make. Big data is going to make us all healthier. What kind of diet should certain people be on? Are there things people are doing that make them really high-risk for cancer?”

Believe the spin, then, and there is no need to worry about the FDA’s ban on the Personal Genome Service. Just buy the (identical) DNA Collection Kit, provide 23andMe with the requisite capital – and most importantly, the genomic data – and better health awaits us all. Dig a little deeper, however, and a less attractive side to 23andMe emerges. In 2009, it filed, and was later awarded, a US patent application for “gamete donor selection based on genetic calculations” with the express purpose of identifying “phenotypes of interest in the hypothetical offspring” – a move criticised by Marcy Darnovsky of the Center for Genetics and Society as tantamount to “shopping for designer donors in an effort to produce designer babies”.

According to 23andMe the ‘Family Traits Inheritance Calculator’ “offers an engaging way for you and your partner to see what kind of traits your child might inherit from you”. When 23andMe filed the patent other potential uses cited for the ‘calculator’ were screening of sperm and ova to be used for in vitro fertilisation, and the selection of traits like eye colour, risk of disease, projected height, and gender. Perhaps unsurprisingly, 23andMe have since distanced themselves from the eugenic implications of the patent, claiming that “much has evolved in that time, including 23andMe’s strategic focus. The company never pursued the concepts discussed in the patent beyond our Family Traits Inheritance Calculator, nor do we have any plans to do so”.

Then there are the privacy concerns (which went unmentioned in last week’s coverage of the DNA Collection Kit in the mainstream media). In a section of 23andMe’s privacy statement titled ‘Analyse and Provide You With Our Services’, the company reserves the right to use your personal information – including your genome – to inform you about products and services. It goes without saying that a colossal amount of money can be made from using genetic identity to target the individual concerned with health-scare-based advertising. Herein lies a serious problem with direct-to-consumer genetic tests: there is no neutral intermediary, no disinterested party between corporation and customer. The power lies overwhelmingly in the former’s hands.

Perhaps most worryingly of all are the consequences for medical insurance. In the UK insurance contracts are signed on the basis of “utmost good faith”, meaning the insured party has to disclose all relevant facts to the insurer. In a little over two years the ‘relevant facts’ could cover genetic data, as at present there is no UK legislation prohibiting discrimination on the grounds of genetic traits or dispositions – merely a moratorium between the Association of British Insurers and the Department of Health which expires in 2017. In the event that the moratorium fails to be renewed or extended, as of 2017 those who have taken a genetic test and been found to carry a genetic predisposition to breast cancer, for example, could be faced with disclosing such information when taking out an insurance plan.    

In light of such not insignificant concerns it might be asked how 23andMe were given the green light by the Research Ethics Committee UK to launch the DNA Collection Kit. If this is troubling enough when seen in isolation, it is particularly so when seen in the context of an emerging pattern of lax oversight and insufficient sensitivity to the ethical and social concerns of this new frontier in medicine.

Take the 100,000 Genome Project. In 2012 a Freedom of Information (FoI) Request submitted to the Department of Health by this very organisation found that data on the proposed national genomic database could be made available to the private sector without patient consent (coverage by The Guardian here) along with some patient-identifiable information. After several further FoI Requests, and despite public assurances from the Prime Minister himself that all patient data made available to the private sector would be anonymous, it emerged that such data currently moves from public to private sector without patient consent on an almost weekly basis. There is every reason to believe that genetic data will be subject to the same availability.

Then there is the impending legislation concerning the misleadingly-named mitochondrial DNA transfer: a process whereby the nucleus of a woman’s egg is transferred into the surrounding mitochondria of another’s, such that the possibility of inheriting conditions through mitochondria DNA (approximately 0.1% of the total cell DNA) is diminished. A laudable aim, no doubt. But one which, as Jessica Cussins of the Center for Genetics and Society notes, threatens a “long-respected international policy consensus” against human germ-line modification. Absurdly, the Department of Health defended itself by claiming it does not believe the technique amounts to genetic modification – a disingenuous response, since the manipulation of a portion of DNA, however small, is precisely the goal. Concerns about safety aside, a technique which allows for three genetic parents will shortly be made available with scant regard for the ethical implications.

There is a common thread in the now certain legalisation of genetic engineering, the 100,000 Genome Project and relaxation of the model of consent that governs uses of the genetic data held therein, and, finally, the arrival of 23andMe on these shores. In stark contrast to international, regional and domestic normative guidance and legal instruments - in the UK, there is not only a failure to treat genomics, the biosciences, and personalised medicine with caution, in fact, these spheres are now seen as part of economic policy. Why is it that this paradigm is seen as appropriate, yet, The Council of Europe’s Convention on Human Rights and Biomedicine (1997) is not alone in urging that the human genome should not be treated as something from which we should gain financially? In any case, what is certain is that decisions that are taken now will shape future policy and regulatory decisions. Indeed, the framing of genetics in terms of their value to the economy smacks of short-termism, and is symptomatic of a wider problem of which global warming is the most poignant example. 


Last modified onFriday, 20 January 2017 08:11
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