23andMe, the direct-to-consumers genetics company, is launching a new service that allows researchers to use 23andMe’s saliva collection kit and genotyping services for their own genetic research studies. In return, research participants can decide to enroll in the 23andMe database and receive information about their genetic makeup.
The service benefits 23andMe both in terms of new revenue (the company will charge $199 per DNA sample), as well as new patients’ genetic data that will be included in the 23andMe database, if patients agree to it. That means that, if patients give their consent, this anonymous aggregated genetic data can be sold by 23andMe to other researchers and pharmaceutical companies for other research purposes.
"It brings new people into the 23andMe database."
"This is a totally different side of the business," says Ruby Gadelrab, 23andMe’s vice president of commercial marketing. "This is a new channel that we’re exploring because it brings new people into the 23andMe database."
The new Genotyping Services for Research, or GSR, is meant to make life easier for researchers, says Gadelrab, while allowing research subjects to get a sort of payback for taking part in the study — possibly making it easier to recruit participants. Some researchers, however, are wondering if putting genetic information in the hands of patients is helpful at all. And whether the service is actually affordable.
Typically, researchers have to find a lab or facility that can give them genotype data for their studies. That can be challenging if the university doesn’t offer that kind of facility. And often, researchers have to handle the DNA collection themselves, either asking participants to go to a clinic or mailing collection kits. Genetic studies often require thousands of participants, and logistics can get tricky. 23andMe promises to handle the whole collection, processing, and storage of the DNA samples, allowing researchers to spend more time on the science rather than the logistics.
Collecting DNA samples from thousands of participants can be tricky
"For us it’s been an incredibly important and successful collaboration because it’s allowed us to maintain the highest quality of genotyping research without any need or necessity to have our own laboratory and our own staff," says Ahmad Hariri, a professor of psychology and neuroscience at Duke University who has been using 23andMe in his research since 2009, way before the company launched GSR. "It’s really a one-stop shopping of sorts that we have with 23andMe."
Researchers will be able to get discount rates if they have large amounts of samples. For example, for 200 samples, it will cost $189 a sample, instead of $199. (Further discounts will be negotiable, but the company is not disclosing pricing for now.) 23andMe will also provide a researcher portal, through which researchers will be able to manage their projects and access the data in real time. And it will allow researchers to create apps to collect phenotypic data, like weight, eating habits, and symptoms, which complement the genetic data.
The price is a bit too high for some. Dan Arking, an associate professor of medicine at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins, says he’s usually able to get much lower prices — about $40 to $50 a sample — by being part of consortiums of researchers that get a big enough purchase order from a single genotyping center to strike deals. "It is definitely an intriguing idea," Arking says. "I’d like to see the price much lower though."
"I’d like to see the price much lower though."
23andMe also doesn’t offer the full sequencing of a person’s genome. It offers genotyping, which only determines the genetic variants that someone possesses for known regions of the genome. That’s useful for studying diseases that are largely due to common genetic variants that are widespread throughout the population, Arking says. "If you’re interested in diabetes, if you’re interested in heart disease, this is still a very useful approach," he says.
The new service is a sign that 23andMe is making a comeback, after experiencing a major setback in 2013. Back then, the US Food and Drug Administration banned the sale of its Personal Genome Service, which could identify up to 254 diseases and conditions, because 23andMe had failed to prove that the risk analysis tied to its genetic tests was accurate. The FDA also feared that the health-related reports would encourage patients with little genetics knowledge to seek procedures they didn’t need or stop taking certain medications.
Since then, 23andMe has worked with the FDA to get approval for the genetic testing of certain diseases. In 2015, the company began offering a limited test for the markers of a rare genetic condition called Bloom Syndrome, which increases cancer risks and makes people with the syndrome very sensitive to sunlight. It also began offering information to customers about their "carrier status" — the ability to pass conditions on to children — of 36 diseases and medical conditions, including sickle-cell anemia and cystic fibrosis.
Creating incentive among study participants
The research subjects who will participate in a study conducted through 23andMe will be able to get that same genetic information in exchange for their participation. That’s a great incentive, according to Hariri, who’s been collaborating with 23andMe for seven years. "It’s not uncommon for our research participants to identify that as a bigger reason for their participation than the monetary payment that we make, which is not trivial," he says, adding that the participants in his studies are mostly college students who have an interest in science. "I don’t imagine that the same level of enthusiasm and excitement would be there in the general population, but I think it would nevertheless be substantial."
For some researchers, however, getting that kind of genetic data in the hands of patients is not very helpful. Patients often think that their genetic makeup will tell them their risk of getting a particular disease, but that’s not how it works, says Jaime Enrique Vengoechea Barrios, a clinical geneticist at Emory University. "Seventy percent of my work is with patients. And I’ll tell you how long it takes to sort of clarify to someone that their 23andMe results do not mean what they thought they meant," Vengoechea Barrios says. "The way I explain it to patients is that 23andMe has entertainment value but it doesn’t really have a medical value."
"This is one of the first opportunities that open genetics to the entirety of science."
Beyond the information that study participants can get back through 23andMe, the most important aspect of the new service is that it makes genetic research accessible and relatively cheap for scientists, says Hariri. And that’s key at a time when an increasing number of researchers are invested in understanding how genes work, how they affect our health, and how they can drive new treatment options.
"This is one of the first opportunities that open genetics to the entirety of science, whether you’re a social scientist or a historian," Hariri says. "This is not so much a tool for those of us who have been doing some kind of genetic-related research for 30–40 years, but rather a really effective way for people to enter the field and to become players in the field in a way that would be otherwise really impossible."