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23andMe's Health-related DTC Testing Service Aims for Friendlier Reception from UK Regulators

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NEW YORK (GenomeWeb) – In taking its Personal Genome Service (PGS) to the UK, 23andMe's consumer-driven business model may get a friendlier reception, at least among regulators.

Due to the challenging regulatory situation in the US, the consumer genomics firm hasn't been reporting health-related genetic testing results to customers through PGS for the past year. Although by offering a version of PGS specifically crafted for consumers across the pond 23andMe is beyond the US Food and Drug Administration's reach, the company took care to garner input from ethicists, researchers, and genetic counselors about how to market the service and even consulted the Medicines and Healthcare Products Regulatory Agency to ensure it was adhering to regulations.

23andMe launched the UK version of PGS with CE self certification – which informs customers that the test meets legal requirements for marketing. The company also followed the principles put forth by the Human Genetics Commission in 2010 on direct-to-consumer testing.

For the time being, England's Department of Health voiced no objections to 23andMe's direct-to-consumer (DTC) offering. "This government is developing the use of genomics for patient care within the NHS," a Department of Health spokesperson told GenomeWeb. "We welcome initiatives that help to raise awareness of genomics and those which enable people to take more interest in their personal health, but we urge people to think carefully before using private genomic services as no test is 100 percent reliable."

Based on the feedback it received from ethicists and researchers, the company decided to only report results when there is evidence supporting the gene-disease or gene-drug response associations. "After consulting with a number of the most respected stakeholders in the scientific community and professional associations, 23andMe has focused on individual genetic markers with well-established associations that have clinical validity," a 23andMe spokesperson from the UK told GenomeWeb. "Certain 23andMe reports can help individuals better manage their health and lifestyle, while others simply offer a way to explore unique traits."

For £125 ($197.36), customers can find out their genetic risk for 11 health conditions, whether they have 43 inherited conditions and 38 traits, as well as learn how they are likely to respond to 12 drugs. UK customers can purchase test kits and receive their results from a UK specific site, and spit kits will be mailed to customers from a European distribution center. The tests will be analyzed using a customized Illumina HumanOmniExpress-24 format chip and processed at its CLIA-certified, CAP-accredited lab.

Growing international markets

In recent months, it has become clear that the DTC testing market outside the US will be a strategic focus for 23andMe as it continues to move toward its goal of genotyping 1 million customers. The UK effort is 23andMe's second offering of PGS outside of the US. In October, the company announced it would sell 108 health-related reports and ancestry testing services in Canada.

A year ago the FDA sent a warning letter to 23andMe, asking the firm to stop marketing its saliva collection kit and Personal Genome Service to customers because it had failed to meet the agency's regulatory requirements for medical devices. As a result, 23andMe stopped reporting health-related testing information to new customers, deciding instead to focus on reporting ancestry testing services. The company still provides US customers their raw, uninterpreted genomic information.

With its ancestry testing service, 23andMe has continued to grow its business, but at a slower pace than when the company was selling its fully loaded testing service, including more than 200 health conditions and traits, in addition to ancestry information for a price of $99. Nonetheless, the company has emphasized that its customer base is still growing.

Last November, when the FDA issued the warning letter, 23andMe had 550,000 genotyped customers. As of August, the company has 700,000 customers. The latest number puts 23andMe's customers at more than 800,000.

23andMe decided to introduce its services in the UK, gauging a high level of interest among consumers in learning more about their personal genetics. Before this latest PGS offering in the UK, even though 23andMe wasn't marketing in the territory, more than 10,000 customers had bought a test kit. Of those, 3,800 customers bought a kit after the FDA warning.

"For well over a decade, UK governments have recognized the great potential that can be delivered through advances in genetics – not just for health and wellbeing, but also for the UK economy," the 23andMe spokesperson said. "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."

According to 23andMe's surveys of existing customers based there, more than 70 percent have said they find the firm's test reports "extremely valuable." Approximately 24 percent have shared their reports with their doctors during a regular appointment, while four percent had requested additional testing or made "a special appointment with their doctor to discuss results."

23andMe is planning to market its services through online advertising, public relations efforts, and social media outreach. The company spokesperson added that 23andMe will launch television advertisements in the UK in early December.

Changing regulatory landscape

Though 23andMe is jumping into the UK market, and doesn't have plans currently to market in other countries in Europe, it could potentially face changes in the diagnostic regulatory landscape in the EU. Under current EU regulations most DTC genetic tests are classified as low risk and therefore can be offered with CE marking. There are few countries, such as Germany, France, and Portugal, which have laws that require a doctor to provide genetic tests.

However, industry observers are anticipating that a forthcoming revision of the EU Directive 98/79/EC – which in 1998 harmonized regulations for in vitro diagnostics across member states – will put in new requirements and restrictions for test providers and alter the European testing market dramatically. According to a perspective piece written by Pascal Borry at the University of Leuven in Belgium and two other colleagues in Science, the revised regulations also stand to restrict public access to DTC genetic testing information.

An amendment (#271) in the proposed regulations states that a genetic test can only be administered "by persons admitted to the medical profession under the applicable national legislation after a personal consultation." The regulations also lay out a new risk-based classification system for medical devices, require so called "notified bodies" to review performance claims of tests ahead of market launch, and ask test makers to submit clinical evidence backing the intended use of the test.

The proposed regulations, including this and other amendments, were voted on at the European Parliament in October last year and again voted on in April this year. The latest version of the regulations is currently being mulled by the Council of the EU and will only be adopted officially if the council and parliament agree to a common version.

"We are not currently marketing our health product in the EU," Andy Kill, a 23andMe spokesperson, told GenomeWeb in October. "The 23andMe Personal Genome Service complies with current EU regulations, and we cannot speculate on future regulation."

Now that the company is marketing PGS in the UK, its response regarding these potential changes hasn't changed much. "There is indeed a revised directive on in vitro diagnostic medical devices currently under discussion at the European level," a 23andMe spokesperson said. "We do not anticipate that any decision will be made in the immediate future and cannot speculate on possible outcomes. We understand that the UK government position is that DTC genetic testing policy should be reserved to member states under the principle of subsidiarity."

Research focus

By launching a service in the UK, 23andMe may open up opportunities for new research partnerships, another strategy the company has been using to advance its business. As reported by The Guardian in the UK, 23andMe co-founder Anne Wojcicki acknowledged at the SXSW festival in March that FDA regulation "ha[d] slowed up the number of people signing up." But she also noted that 23andMe was "being inundated with requests from academics and foreign partners."

Following review and approval by a research ethics committee, 23andMe hopes to give UK customers the chance to participate in genetic research. Ultimately, by marketing genetic testing directly to consumers and engaging them in an online community that can discuss and shares results, 23andMe's goal is to change traditional research paradigms that are often bureaucratic, slow, and restrict participants from accessing their own data in clinical trials. By crowdsourcing genetic research among 1million customers – a goal that 23andMe is getting closer to despite pushback from US regulators and naysayers of the DTC model – the company hopes to speed the pace of genetic discoveries about complex diseases, such as Parkinson's and cancer.

According to 23andMe, more than 600,000 of its customers have elected to participate in research, which has helped its research team "identify hundreds of new genetic associations." The firm has announced research partnerships with Pfizer to uncover genetic links to inflammatory bowel disease; with Genentech on a study involving metastatic breast cancer patients treated with the drug Avastin; and with the Michael J. Fox Foundation, the National Parkinson Foundation, and the Parkinson's Institute and Clinical Center to investigate the genetic characteristics underlying Parkinson's disease.

In a release announcing the PGS offering in the UK, 23andMe highlighted Genomics England's 100,000 Genomes Project as an example of the importance the country is placing on advancing genomics research. The launch of the project "made the UK a priority country in which to launch 23andMe to help give all people affordable access to their own genetic information," 23andMe said in a statement.

Although Genomics England wouldn't comment specifically on the UK launch of PGS, a spokesperson for the group was quick to point out that the 100,000 Genomes Project was "quite different to the 23andMe service."

"Genomics England has been set up to look at conditions where we have the opportunity to make a difference to an individual’s healthcare within the NHS environment," Mark Caulfield, chief scientist at Genomics England, told GenomeWeb. "We are currently only inviting participants with certain cancers and rare diseases to take part in the 100,000 Genomes Project, referred to us through their NHS clinician."

Frances Flinter, professor of clinical genetics at King's College London, similarly highlighted the importance of presenting genetic test results with appropriate counseling and physician input. "In order to advise people properly it may be necessary to take a detailed family history, examine a child and its parents and arrange other tests such as blood tests or X-rays before it becomes clear whether or not genetic testing may be useful," Flinter said. "Genetic testing without the professional support of experienced staff may be less informative or even misleading."

Other researchers felt that the availability of services like 23andMe's help educate the public about genetics and is just a part of scientific progress. "Genome sequencing is here today. Yet our understanding of the impact of genome variation on human individuality and health is in its infancy," said Eric Miska, Herchel Smith chair of molecular genetics at the University of Cambridge. "Society needs to discuss how individual human genome sequences should be accessed safely and how it can be shared. 23andMe and other similar commercial services can give individuals a glimpse of the fun, excitement and risks associated with human genome data."

Here to stay

Back in the states, despite its critics and regulatory hardships, this is perhaps the message 23andMe wants to send: It is here to stay. The company has started the long process to once again submitting clinical validation data on its numerous health-related genetic tests to the FDA, the company has also hired prominent lobbyists in Washington, DC to work on regulatory issues impacting laboratory tests. 

A few months ago, the company moved its headquarters to a brand new facility in downtown Mountain View, Calif. owned by Google, one of its financial backers. According to CrunchBase, a database of startups, 23andMe to date has raised $112 million over six funding rounds through 11 investors.

Earlier this year, the NIH gave the firm $1.4 million in grant funding, which 23andMe plans to put toward building a platform for better connecting researchers and consumers.


Justin Petrone contributed additional reporting for this article from Estonia.

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