By Bara Vaida
WebMD Health News
Genetics testing company 23andMe capitalized on consumers’ interest in gene testing and has built a database of almost 1 million individuals’ genes. Until the end of 2013, 23andMe had been providing customers with health-related testing and results based on those genes , but stopped after receiving a warning letter that they needed approval from the Food and Drug Administration first. In February 2015, the FDA approved the company to sell a test for Bloom syndrome, a rare genetic disorder.
On April 24, Emily Drabant Conley, PhD, 23andMe’s director of business development, discussed the FDA news with health care journalists gathered in Santa Clara, CA, for the Association of Health Care Journalists annual meeting. WebMD spoke with her afterwards. Here is an edited excerpt.
Q: One goal of 23andme was to empower consumers by giving them health information about their genes. The company had to stop providing that information after the FDA issued its warning in 2013. If I buy your test right now, what do I find out?
A: You get access to your ancestry interpretation. It would give you a detailed breakdown percentage-wise of where your DNA comes from, what percentage is from Europe, and within Europe, how much is northern or southern European. We can tell you if you have Native American ancestry or how much Ashkenazi Jewish ancestry you may have. You also get access to your raw data, which you can download and do what you like with. We do have some super users who will take a look at their raw data and be able to make some interpretation themselves, but 23andMe does not provide any interpretation of the raw data.
Q: Are you actually getting your genome sequenced?
A: No. We do something called genotyping. If you think about the genome as a long string of letters, it would be about 3 billion letters. With genotyping, you just look at specific letters that vary between two people. We are looking at about 750,000 letters of your DNA versus whole genome sequencing, which would look at all 3 billion letters.
Q: Could I take that raw data to a geneticist and have that person interpret it for me?
A: Yes, you could. You can download a full text file, that is literally 750,000 rows, and each one is your genotype in each position. … (You can) bring it to your health care provider for interpretation.
Q: Besides the ancestry tracing, what are you doing with that information that you collect about people?
A: If people opt in to participate in research, that means that we can combine their genetic information with information that they tell us about their health, like what diseases run in your family? What is the disease you have been diagnosed with? What is your diet like and exercise like? We combine those two pieces of information for the purposes of research. Our consent does not permit us to share your individual-level data. I think that is very important to understand. We are only able to share data in the aggregate.
Q: What are you doing on the research side?
A: We are looking specifically at people with a disease versus those without disease to see if genes occur more frequently, particularly genetic variants in people who have the disease (rather) than those without the disease. We don’t fully understand what causes diseases like Parkinson’s. … The hope that genetics will inform us of what causes a disease to develop, then you can make therapies that target some of those causes.
Q: Has 23andMe’s research discovered something that is particularly promising?
We have the largest cohort int he world of individuals with Parkinson’s that have been genotyped. So it is a very unique research cohort. We have published a lot of papers … and our data is used by other researchers.
Q: What percent of your 900,000 customers decide to opt in to have their data used for your research?
A: Over 80 percent.
Q: What happens with data from the other 20 percent? Do you destroy it?
A: Their data is completely withheld from all our research activities. If someone closes their 23andMe account, then all of their data is destroyed.
Q: The FDA approved your test for Bloom syndrome. Will there be additional tests available later this year?
A: We had to prove three pillars. One, that our tests have analytical validity, which is, are you really accurately genotyping the DNA variant that you say you are? The second piece is about clinical validity, that is saying, ‘You genotyped GG and that means you are a carrier for Bloom’s, is that true? And the third piece is user comprehension. Can users understand this information?
What was interesting about the FDA decision is, say, that other autosomal (gene-carrier) diseases may no longer require pre-market review. So that means you can just go ahead and sell a product and the day you do, the FDA can audit you and you have to demonstrate you did those three things they required (as part of the formal review). There are probably about a dozen or two diseases that meet that criteria. We’ll be offering those later this year.
Q: You also announced that 23andMe is launching a new precision medicine initiative. Can you talk about that?
A: We have launched our therapeutics division with Richard Scheller, former executive vice president of research and development at Genentech. This is sort of the dream. How do you leverage a big genetic database to better understand disease and better treat it? There is a lot of optimism. We recognize we are taking on a lot. It is not a small thing to become a drug company. It is expensive and there are certainly risks, but we think we’ll have something unique to bring to it. We also think this will be in the best interest of our customers to be able to speed up discovery.
Q: You are speaking to how a lot of government-funded research on disease is incremental and slow?
A: I was a researcher at Stanford (University0 for many years and I worked in one lab with limited resources and with a relatively small team. We didn’t have a web designer to build a website to get hundreds of thousands of people to participate. (Our) model is unique because this is a research project that is different from most traditional studies in that the research participants get their data. They get to learn about themselves and that is hugely engaging for them and part of how we have been able been able to get almost 1 million people. The first step is to find drug targets and that is a long process.
Q: What is the future of genetics testing?
A: It’s that more people will get access to their information. I think we are headed in the direction where it will be pretty commonplace for people to have access to their genetics and for healthcare providers to leverage that information in treatment and care.
Q: Should everyone have their genes tested?
A: I think it’s a very personal decision. For me it’s been quite valuable, but I recognize some people may not want that information.
Q: What are the dangers of having one’s genetic testing? Newborns are already given tests for certain genetic diseases, and obviously they can’t consent.
A: I don’t know. For me, I think it’s a cost benefit. There are cases where genetics and having access to the information can be beneficial to health. With children there are important genetic screenings being done right now and that has a lot of value.