IT鈥橲 2008. The is chronicling a celebrity 鈥渟pit party鈥�, at which notables 鈥� nicknamed the 鈥淪pitterati鈥� 鈥� eject saliva into tubes to find out their risk of developing illnesses such as diabetes, heart disease and cancer. The firm involved is 23andMe, a direct-to-consumer genetic testing company whose service was named Invention of the Year by Time magazine.
Fast-forward five years. 23andMe receives a demand from the US Food and Drug Administration (FDA) to stop selling its health-related tests pending scientific analysis. In a separate event, a Californian woman, Lisa Casey, files a $5 million class action lawsuit alleging false and misleading advertising. 23andMe suspends sales of its test, putting paid to its target of reaching 1 million customers by the end of 2013. Where did it all go wrong?
In November, after what the FDA describes as years of 鈥渄iligently working to help [23andMe] comply with regulatory requirements鈥�, the agency sent a to the firm鈥檚 CEO Anne Wojcicki. It stated that 23andMe鈥檚 Personal Genome Service was marketed without approval and broke federal law, since six years after it began selling the kits, the firm still hasn鈥檛 proved that they work.
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鈥淪ix years after it began selling the genetic-testing kits, 23andMe hasn鈥檛 proved they work鈥�
Doubts go back a long way. In the year of the spit party, the American Society for Clinical Oncology that concluded the partial type of analysis involved wasn鈥檛 clinically proven to be effective in cancer care. In 2010 the US Government Accountability Office concluded that .
What 23andMe offered was a $99 test for 250 genetically linked conditions, based on a partial reading of single-nucleotide polymorphisms (SNPs). These are points where the genomes of different individuals vary by a single DNA base pair. There are some 3 billion base pairs in the human genome 鈥� this test targets only a fraction of them. Different companies sample different SNPs and so return different results for the same person.
To illustrate this point, in his book Experimental Man, science writer David Ewing Duncan recalled how he received three conflicting assessments of heart attack risk from three different companies. The director of one, 鈥� no longer offering such tests 鈥� telephoned him from Iceland to urge him to start taking cholesterol-lowering statins. Yet the other two tests 鈥� one from 23andMe, one from Navigenics, which no longer offers consumer tests 鈥� had rated him at medium or low risk. Given that some statins carry side effects such as muscle weakness, Duncan might have been ill-advised to follow deCODE鈥檚 urgent advice.
This is the root of the FDA鈥檚 concerns. In its letter to 23andMe, it raised the risk that customers could get false information that leads to drastic and misguided medical steps. Wojcicki now says: 鈥淲e want to work with [the FDA], and we will work with them.鈥� But is it too little, too late?
And what of the class action lawsuit, brought by Casey after buying a test? It focuses on the test鈥檚 accuracy but goes further, targeting what Casey鈥檚 attorney calls 鈥渁 very thinly disguised way of getting people to pay [23andMe] to build a DNA database鈥�.
By asking customers to fill in surveys about health and lifestyle, 23andMe has been creating a valuable 鈥渂iobank鈥� for patenting purposes and industry collaboration. The firm has always sought customer consent for use of identifiable data and hasn鈥檛 disguised its aim. 鈥淭he long game here is not to make money selling kits, although the kits are essential to get the base level data,鈥� says 23andMe board member Patrick Chung. 鈥淥nce you have the data, [23andMe]鈥� becomes the Google of personalised healthcare.鈥�
Last June, this strategy culminated in a potentially lucrative genetic . The company had offered its test free to people with the illness and might have expected praise. But an angry customer wrote: 鈥淚 had assumed that 23andMe was against patenting genes. If I鈥檇 known you might go that route with my data, I鈥檓 not sure I would have answered any surveys.鈥�
What impact will all this have on 23andMe鈥檚 brand strategy? The firm has tried to create a sense of solidarity, emphasising what it called 鈥渃ommon interests, affinities and passions鈥�. As the firm wrote on its blog in 2008: 鈥淲ikipedia, YouTube and MySpace have changed the world by empowering individuals to share information. We believe this same phenomenon can revolutionize healthcare.鈥�
If customer trust is threatened, that won鈥檛 happen 鈥� even if the firm switches to sequencing the whole genome or exome (the protein-coding parts of the genome), avoiding the worst inaccuracies of SNP testing. Whole-genome sequencing has become cheaper, although it鈥檚 still out of reach of the mass market the firm needs to build the biobank. Earlier this year the company piloted a whole-exome service for $999.
Given its status as the poster child of mass-market genetic testing, do 23andMe鈥檚 travails affect personalised medicine more generally? In the year that it started operations, 2007, then-Senator Barack Obama introduced his Genomics and Personalized Medicine bill, remarking that 鈥渋n no area of research is the promise greater than in personalised medicine鈥�. Many advocates expected the shift to start at the popular, consumer level.
So while the most consciously populist genetic testing service wrestles with its critics in the months ahead, there is a growing danger that wider public acceptance of personalised medicine in the clinical setting may also suffer in the fallout from 23andMe鈥檚 woes.
This article appeared in print under the headline 鈥淭esting times鈥�
