Last week, it was announced that the Google-associated home DNA screening kit, 23andMe will be launched in the UK. In the US, however, 23andMe remains unavailable – a Food and Drug Administration order issued in November 2013 instructed the company to desist from marketing their eponymous genomics kit in the US. We investigate the issue.

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23andMe is named after the 23 chromosomes in the human genome.

23andMe began in 2006, when biologist Anne Wojcicki moved to California’s Silicon Valley to be with her then-boyfriend, Sergey Brin. Wojcicki was and remains a passionate critic of the US health care system. In particular, she was disillusioned with how the health industry – currently worth more than $3 trillion – has what she considers to be a profit incentive in illness.

“Obesity is awesome from a Wall Street perspective,” Wojcicki explained to UK newspaper The Guardian. “It’s not just one disease – there are all sorts of related diseases to profit from.”

From that perspective, the predicted rise in obesity-related diabetes to 10% of the global population by 2030 represents excellent business growth in an industry where treatment makes more money than prevention.

Wojcicki’s move to Silicon Valley gave her exposure to like-minded souls who also had the entrepreneurial experience to convert Wojcicki’s proposed industry alternatives into a viable business model. Through Brin, she met biotech executive Linda Avey at a TED conference and her friend, management executive Paul Cusenza.

The trio came up with the idea of a DNA profiling company that would empower patients by cutting out doctors and hospitals, providing customers with information on their bodies and associated genetic risks. They pitched the idea to the company that Brin had co-founded, and who subsequently invested $3.9 million in the DNA start-up. That company? Google.

Additional investments into the start-up came via Genentech, New Enterprise Associates and Mohr Davidow Ventures.

By 2007, Wojcicki, Avey and Cusenza – as 23andMe; named after the 23 chromosomes in the human genome – had launched a DNA spit test onto the market with a high-end $999 price tag. Increased competition from rivals launching similar, but less disease-focused products – that concentrated on just detecting drug risks, for example – prompted a marketing rethink.

The company instead began to envision the 23andMe spit test as a more mainstream lifestyle accessory, dropping the price dramatically to just $99 in 2012. The price drop was a popular move, and the company doubled its number of customer profiles over the following 9 months.

But 23andMe was dealt a potentially fatal blow in November 2013 when the Food and Drug Administration (FDA) warned that in marketing the device they were in violation of regulatory codes and demanded the product be withdrawn.

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“These tests have not provided scientific evidence to the FDA on accuracy or reliability,” claim the FDA.

The FDA shutdown was very public and considered unnecessarily brutal by some supporters of direct-to-consumer (DTC) genetic testing, who believe that regulatory bureaucracy has not kept up with the technological advances pioneered by the likes of 23andMe.

We spoke to FDA spokesperson Jenny Haliski on where the administration’s dealings with 23andMe currently stand.

“Here is the status of the situation with 23andMe,” Haliski told us. “If they were to re-introduce that service in the United States, they would need to receive a marketing authorization from the FDA, likely under the 510k section of the Food Drug and Cosmetic Act, as described in the warning letter.”

Haliski goes on to list three main concerns that the FDA have regarding 23andMe:

  • “Without FDA clearance or approval, patients may be exposed to unknown risks and use of the device could potentially lead to patient harm.”
  • “The agency has determined that the results from some DTC genetic tests have questionable clinical value, how the results impact patient health is not known, and there are no guidelines for health care professionals on how to use these test results.”
  • “DTC genetic tests may provide inaccurate or misleading disease risk assessments. These tests have not provided scientific evidence to the FDA on accuracy or reliability.”

However, Haliski confirmed that some rival tests have been cleared or approved by the FDA.

Where the FDA and the UK Medicines and Healthcare Products Regulatory Agency (MHRA) differ in their perspectives on 23andMe is that the MHRA does not consider the spit test to be a medical device, but as Wojcicki describes it, “more an information product.”

“The longstanding commitment by successive governments in the UK to harness the full potential of genetic testing is one of the key factors in 23andMe’s decision to launch its service in the UK,” 23andMe spokesperson Beth Williams told Medical News Today.

“We believe many UK residents are excited by what 23andMe has to offer,” Williams adds. “Genetics speak to the core of all humans and we believe everyone can relate, learn and benefit from knowing about their DNA. We hear directly from customers on how valuable this information is to them, which extends beyond health.”

Despite the company’s victory in securing a UK launch, Haliski’s third point on the FDA’s list of concerns – the lack of evidence regarding the test’s accuracy – remains a concern for some.

In 2011, a study comparing 23andMe and rival DTC genetic tests from deCODEme and Navigenics (both no longer operating) was scathing in its assessment of their medical benefit. The researchers reported that the tests were inaccurate and offered little, if any, benefit to consumers. Results from the tests were found to vary so wildly that the researchers considered some of the predictions to be no better than flipping a coin.

We asked the lead author of that study, Prof. Cecile Janssens, if 23andMe had taken steps to improve the accuracy of their tests in the wake of the study’s findings.

She replied:

No. But let me be clear here: I have no doubts about the accuracy of their genotyping, they work with qualified labs. But the accuracy of the prediction for common diseases and traits has not improved since the FDA decision. The current state of science is that most of the diseases and traits that are tested by 23andMe cannot be predicted with great accuracy, there is not much 23andMe can do about that. It is not that they don’t want to make their tests more predictive, it is just not possible given the current state of science.”

In response to the study’s findings, Brian Naughton of 23andMe told The Guardian: “We are aware that most people will be at low risk for most diseases – this is what we expect, and is not an indication of inaccuracy.”

Indeed, part of the company’s rebranding of the test is to place less of an emphasis on screening for genetic risks of disease, and more on using personalized data to provide “trigger moments” that encourage users to change their lifestyle and improve their health.

And, in truth, the $99 spit test is only one aspect of what 23andMe is really about.

Despite the mainstreaming of its flagship product, the company retained an ambition to make a large-scale contribution to science.

Beyond the overtures to consumer-empowerment offered by the now-affordable spit test, 23andMe proposed to harvest genetic information from as many human beings as possible, creating a huge database that researchers could use to search for genetic clues to the causes and cures of the full spectrum of human disease.

23andMe told MNT that they have now amassed 800,000 DNA samples – with more than 80% of those customers electing to make their genetic information freely available for research – creating what the company purports to be one of the largest databases of genetic information in the world. However, the gene test offered by 23andMe currently only samples tiny snips of DNA that are just a fraction of the whole genome.

As such, some critics have suggested that the scientific significance of 23andMe’s DNA harvesting project pales next to large-scale whole genome sequencing projects, such as The 100,000 Genome Project launched by the UK’s National Health Service (NHS), which plans to have sequenced 100,000 whole genomes by 2017.

Speaking to The Guardian upon the announcement of 23andMe’s UK launch, Dr. Ewan Birney, associate director of the EMBL-European Bioinformatics Institute in Cambridge, said:

For the curious and the scientists, 23andMe is fine, it’s fun and you can have a ball with your ancestry, but for the general population the NHS is truly working out how best to use this in a way that is world leading. If you’re waiting for the technology to catch up with you, the NHS will deliver.”

Widespread take-up of whole genome sequencing is perceived by experts as being the next great revolution in medicine, with companies racing to provide affordable whole genome sequencing services as the price of the procedure comes crashing down.

Vance Vanier, vice president of reproductive and genetic health at San Diego-based Illumina told KQED Science that “the world has been quite focused on getting the so-called thousand-dollar genome. […] I think the story of the next 5 years is to see that affordability spread more and more to broader segments of society and to clinical laboratories specifically.”

Illumina this year announced the development of a system that performs whole genome sequencing for $1,000.

Despite the FDA ordering withdrawal of the 23andMe spit test kits, the company continues to operate an ancestry-testing service that generates data for the DNA database. In July, the company also announced that they were receiving $1.4 million in funding from the National Institutes of Health (NIH).

The NIH grant is to fund a 2-year development project to expand the database, enable whole genome sequencing and allow external researchers to access de-identified data from the database, which 23andMe call “the Research Accelerator.”

“23andMe has published and contributed to 22 papers in the past 4 years,” Beth Williams says, of the company’s commitment to expanding medical knowledge, “in leading, peer-reviewed scientific journals on areas such as allergies, asthma, hypothyroidism, myopia, breast cancer and Parkinson’s disease.”

However, by this point, 23andMe as a brand name was approaching toxic. It had responded poorly to the FDA’s warning letters pointing out regulatory violations concerning the marketing of the spit test, with Wojcicki claiming they had misunderstood what it was the regulatory body was asking them to do – it was not until March of this year that the FDA accepted 23andMe had addressed the violations and ceased marketing of the device.

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“I don’t love Google having data on my gut bacteria,” said Kara Swisher, a critic of 23andMe, “they will figure out how to monetize my gut bacteria.”

Wojcicki was also the subject of some controversy in 2012 after she successfully filed for a patent on a gene thought to offer protection from Parkinson’s disease. Though she claimed that she was trying to ensure no one could obstruct Parkinson’s research, critics interpreted the move as an attempt to monetize Parkinson’s research – a position that, if true, would be in direct contradiction of her own mission statement. A year later, the Supreme Court ruled that human genes cannot be patented.

“We recognize that patents are complicated and can be controversial,” acknowledges Beth Williams.

“23andMe will not prevent others from accessing their genetic data or its interpretation specific to our patents,” Williams told MNT. “Other entities can present information about the genetic associations covered in our patents without licensing fees.”

Medical News Today asked the NIH if this negative publicity was taken into consideration when approaching their partnership with the company.

“23andMe received a grant as part of the NIH Small Business Innovative Research program,” replied Raymond MacDougall, spokesperson for the NIH’s National Human Genome Research Institute, “which is one of the largest sources of early-stage capital for innovative small companies in the United States. The application from 23andMe underwent a competitive peer review process through which NIH selected it as meritorious.”

However, perhaps partly because of the company’s ties with Google in the fallout of the Edward Snowden allegations, some people remain suspicious of the company’s motives for harvesting medical data.

“Do you need all this information?” Kara Swisher, of the Wall Street Journal, asked Anne Wojcicki. “I don’t love Google having data on my gut bacteria – they will figure out how to monetize my gut bacteria.”

Wojcicki’s response:

One of the reasons we went direct to consumer is so that you own the data. If your insurance company pays, they own it, but if you pay, you own your own data, and if you then want to share it, that’s your right.

Privacy is the foundation of what we do, but we have found that people want to share this information – not on Facebook necessarily but with physicians and family… People don’t have to participate in our research, but some people have begged us to use their data because they have a fatal disease and want to do as much as they can to help future generations.”

“If we don’t ensure our customers’ security and privacy, we don’t have a business,” Beth Williams explained to us.

“We do not share individual level data without expressed written consent from the individual,” she emphasized. “We employ robust authentication methods to access our systems. We also employ software, hardware, and physical security measures to protect the computers where customer data is stored. Personal information and genetic data are stored in physically separate computing environments, in line with the highest industry standards for security.”

The extent to which 23andMe will usher in a new era of personalized medicine is debatable. We asked Prof. Janssen if, in her opinion, home genomics has value to patients, or whether it is simply a gimmick.

“It is difficult to give an overall opinion about that,” she said, “because there are different tests being offered, for example ancestry testing, carrier testing for disease mutations, paternity testing and predictive testing for common diseases or for diet and lifestyle recommendations.”

However, Prof. Janssen considers that prediction of common diseases is generally not useful, as “the predictive ability is not high enough and companies do not take into account the contribution of other risk factors such as diet, alcohol consumption, smoking and exercise, which often have a larger impact on disease risk.”

“I would not consider it a total gimmick,” she concludes, “most tests do have a scientific basis, but that is not sufficient to call them useful.”

However, Vance Vanier points out that there was a time when pregnancy tests had to be done in a doctor’s office – these days you can even buy over-the-counter HIV tests.

“I think the pattern you see,” Vanier told KQED Science, “is as information gets better understood and as there are more social safeguards around it to protect from a misuse of it, then there is increasing comfort of how it can evolve into the consumer market.”

“Our mission is to help people access, understand and benefit from the human genome,” states Beth Williams. “A large part of this mission is the research we conduct on our own, as well as research conducted with academic and industry collaborators – research we believe will lead to better treatments, diagnostics, and prevention of disease.

“We aim for these discoveries to benefit everyone.”