23andMe gene test firm uses samples for research

On advice of IRB, revised IC process

23andMe brings a unique twist to the world of commercial genetic testing.

Here, a person can purchase a testing kit, submit a saliva sample, and access a secure online report regarding his or her genotype that links results to research about disease risks, carrier risks, physical traits and drug responses. For an additional fee, the customer also can explore his or her ancestry and even link up with other customers whose DNA closely matches theirs.

But the company also has engaged in research studies, and recently published a paper in the journal PLoS Genetics, linking certain genomic variations to physical traits such as hair curl, freckling and a sneeze response to bright light.1 The information came from customer samples and responses to surveys, both stripped of identifiers.

Editors of the journal initially raised questions about the lack of IRB review. In an accompanying editorial, the editors stated that publication of the article was delayed six months while the issue was resolved. 23andMe obtained an opinion from an independent IRB exempting the study from review, based on the fact that the investigators didn't directly interact with participants or receive identifying information about them.

Finding an IRB

Joanna Mountain, PhD, senior director of research at the Mountain View, CA-based company, said that at first, it was difficult even to figure out how 23andMe would deal with an IRB.

"I had experience with academic institutions, where you knew what IRB you would work with," she says. "I looked around and there was a local IRB in the (San Francisco) Bay Area. We wanted to be able to have some face-to-face discussions about what seemed to be a tricky area of research that many IRBs wouldn't know what to do with."

On the advice of their IRB, 23andMe made some changes to their procedures:

—Previously, they offered customers a single document, containing both the terms of service for the site and informed consent for research.

"If you wanted to sign up for the 23andMe service, you had to commit to the research project," Mountain says. "The IRB advised us to separate those two sets. As it stands now, when our customers sign up, they have to sign the terms of service to get that service but they can then choose whether to be part of research."

Mountain says the vast majority of customers do choose to participate in research — that ability is part of what draws many of them to 23andMe.

—The company now is in the process of contacting people who signed up for the service before the change to get explicit consent to use their data for research.

"Actually, this has been a challenge," she says. "It's set us back a little bit as we wait for people to read the e-mail and do the consent. In some cases, people might not even read the e-mail (immediately). It did cut back a little on our sample size."

—The IRB advised 23andMe to be extremely clear to customers about how the site uses their data and the protections in place. The company already employs animation to discuss such topics as the basics of DNA and how genetic switches control human traits.

"Our IRB is encouraging us to use cartoons and bullet points to explain things," Mountain says. "We haven't implemented it yet. We try to do this all the time — we're so focused on communicating with customers as much as possible."

Outside collaborators

The IRB also is working with the company to review proposals for collaborations with outside investigators that would involve contacting customers to be interviewed. Mountain says that any project that goes outside 23andMe's standard information-gathering procedures would require additional IRB review.

She says one challenge of working with customers on a website is getting them to really read the consent forms, since many are used to checking a box for terms of service agreements without reading them carefully. For example, 23andMe highlights the headers of paragraphs so readers can understand the key points.

"We're trying to catch their attention and say, "Hey, this is not like signing up for a newsletter."

She says it's important that her company is able to protect its participant customers without unduly slowing down the process. Mountain says that the impatience of disease communities with the slow pace of research is one factor that has driven interest in sites like 23andMe.

"We've managed to figure out how to work with the IRB to improve on the process," she says. "Rather than have it be a hindrance, the idea is to have it be something that adds value to what we're doing."

For more information about 23andMe, visit the company's website at www.23andme.com.

Reference

  1. Ericksson N, Macpherson JM, Tung JY, et al. Web-based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits. PLoS Genet 2010 Jun 24;6(6):e1000993.