Eight questions for Anne Wojcicki, CEO and co-founder of 23andMe

For the 800th issue of BioNews, we put eight questions to 23andMe CEO and co-founder Anne Wojcicki. Anne is a trained biologist who worked for ten years in health investment analysis before co-founding 23andMe in 2006. The company specialises in home genetic testing and says its aim is to 'help people access, understand and benefit from the human genome'. In the last two years it hit headlines after it was asked by the US Food and Drug Administration (FDA) to discontinue selling health reports as part of its Personal Genome Service. It also launched its services in the UK in December, and recently announced plans to share the data of (consenting) consumers with pharmaceutical companies. We asked Anne about all of this and more.

Many conditions have multiple genetic and environmental risk factors, for example type 2 diabetes. How strong is the evidence that the genes tested for by 23andMe can be reliably used to inform people of their risks and form the basis of healthcare decisions?

We believe understanding your genetic information is an important tool, but not the only tool, in living a healthier life. Apart from monogenic diseases like Tay-Sachs, or sickle-cell anaemia or cystic fibrosis - all of which we test for - most conditions are influenced by multiple genetic and environmental factors. As for conditions like type 2 diabetes, we do not provide multiple odds-ratio reports for common complex diseases. For consumers, the more information they can gather about themselves, the better equipped they will be in making lifestyle choices that affect their health. And something else we've seen is that this data - because it is so personal - can provide the kind of push some people need to make healthier lifestyle changes. There is an ongoing study by Robert Green at Harvard looking at direct-to-consumer genetic testing. His preliminary data shows that when people get their results they make positive changes in their health. That's pretty powerful. 

Has your knowledge of your own genetic risk made a difference to your personal healthcare decisions? How can you be sure that your customers will receive adequate genetic counselling before making decisions about their own health?

Yes, I have learned about risks within my own family for Parkinson's and breast cancer, and we have made changes based on that information. The second part of your question assumes that we all need to have genetic counselling to understand this kind of information, and that's simply not supported by the data. According to numerous peer-reviewed studies, people do not go out and make drastic healthcare decisions after receiving this kind of information. People talk to their healthcare provider, and their families, and make informed decisions. We started 23andMe because we think that people have the right to access this information without having to go through a third party.

Further, Alberto Gutierrez, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Centre for Devices and Radiological Health, said: 'The FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information. Today's authorisation and accompanying classification, along with FDA's intent to exempt these devices from FDA pre-market review, supports innovation and will ultimately benefit consumers. These tests have the potential to provide people with information about possible mutations in their genes that could be passed on to their children.'

Of course, we are very supportive of customers who wish to seek genetic counselling, and we provide access to those types of services through InformedDNA. 

Through 23andMe it is possible for people to discover that they have a more than 50 percent chance of developing Alzheimer's disease. What value does this information have for a condition such as this with no clear prevention or treatment, and might discovering this actually be detrimental for some people? 

This comes down to personal choice. We offer people the ability to access this information if they wish. Many people want to know if they have a risk or not and, while there is no cure, some individuals feel that knowing their risks can help them better plan for the future, stay informed about research and participate in efforts to find a cure. But not everyone wants to know this kind of information. Both 23andMe reports on Alzheimer's and Parkinson's disease are locked, meaning that there are additional steps that people must take to open those results. Those steps include written information and video content to inform them of what the results mean. We remind them that if they choose to unlock these reports and look at the information, that is not something they can unlearn. 

The UK moratorium on genetic data sharing with insurers is currently due to expire in 2019. Do you think people in the UK should be concerned about having their genes analysed by 23andMe, given that the data might one day be used by insurance providers?

This issue is bigger than 23andMe - we provide just one type of genetic test. We believe UK residents should have comprehensive, permanent laws protecting them against all forms of genetic discrimination. We have advocated for such legislation in other countries, including Canada and the United States. In the United States legislators passed what is called the Genetic Information Non-discrimination Act (GINA), which prohibits discrimination in health insurance and employment based on genetic information. The UK is extremely forward thinking when it comes to genetics - the 100,000 Genomes Project being one example. We hope this innovative spirit extends to legislation, and that UK residents will be permanently protected against genetic discrimination.

You have had your own children tested. What do you say to those who argue that this is wrong because children cannot consent to testing?

As parents we have to make healthcare decisions for our children all the time. For example, pre- and post-natal testing for certain diseases is fairly common, and all done without the consent of children. Every time I take my children to a doctor there is potential for us to learn something that is life-altering. Their genetic information is no different. We are gaining valuable knowledge about our children that could be beneficial in making decisions about their healthcare and how they live their lives.

You've recently teamed up with pharmaceutical companies and are sharing your data with them. Some commentators have suggested that this was always the plan for 23andMe. Have you been completely open with your customers from the start about your plans for their data?

We have always been very up front in discussing our research mission with customers. Accelerating the pace of research and making meaningful discoveries for our customers has been at the core of what we do since the beginning. We also allow customers to opt in or opt out of research. Most of our customers - about 80 percent - choose to participate in research. Should they ever change their mind they can opt out and remove their data from our research programme at any time. People want to participate in research, but they also want to make sure that their data is secure and that they know how their information is being used. So we try very hard to maintain that kind of transparency with our customers, informing them of our research and returning results to them. Our mission is to help people access, understand and benefit from the human genome. The benefit lies in research, which hopefully will result in better treatment - and eventually cures - for disease. 

According to the website, people who live in the UK cannot currently participate in research. Will this be in an option in the future? If so, will it be subject to the usual UK regulatory procedures that govern research involving human subjects?

The short answer is yes. 23andMe has submitted our research protocol to a UK-based research ethics committee (REC) and are currently awaiting review and approval. Approval from an REC would allow customers to opt in to our research program. Our research in the United States is overseen by an institutional review board, which is similar to an REC in that it ensures the interests of research participants are protected.

How do you see things unfolding for 23andMe in the US with regard to FDA approval? Do you see a role for 23andMe in President Obama's vision for personalised medicine?

Those are clearly two different things.

Regarding the FDA, our conversations with them are ongoing and we hope to have a health product back on the market in the US this year. We were pleased to have the first direct-to-consumer genetic test to complete the FDA regulatory process, as 23andMe's Bloom Syndrome Carrier Status test was given marketing authorisation through the de novo pathway in February of this year.

In addition to the authorisation to market the Bloom Syndrome Carrier Status test, the FDA is also classifying autosomal recessive carrier screening tests as class II with the intention to exempt such carrier tests from FDA pre-market review. According to the FDA's press release, the 'agency plans to issue a notice that announces the intent to exempt these tests and that provides a 30-day period for public comment. This action creates the least burdensome regulatory path for autosomal recessive carrier screening tests with similar uses to enter the market.'

This is the first step in our commitment to returning health information to our customers in the US. We will continue to keep our community informed of our progress, but will not return results on individually cleared reports until we complete the regulatory process on additional health reports and have a more comprehensive product offering.

As for President Obama's Precision Medicine Initiative, I'm very encouraged by the effort and similar efforts here in the UK. Creating this sequence library of a million people's data is a critical next step to translating genetic information into new treatments, cures and expanding our knowledge of disease prevention. I can also say that it can't just be about a big number. To succeed these efforts must engage and empower people in the process. I think that's something 23andMe has pioneered - engaging participants and patients and putting them at the centre of research - and where we can lend critical insights into the Precision Medicine Initiative.