Do You Really Want to Know?

Genomic sequencing yields great information, yet even greater questions arise about its use.

Cinnamon Bloss, Ph.D. ’07, wants to quantify how people respond to new advances in biomedical technologies—direct-to-consumer genomic sequencing, for example. As a clinical psychologist and assistant professor in the UC San Diego School of Medicine Departments of Psychiatry and Family Medicine and Public Health, Bloss’ research findings inform new technological developments and the policies that guide their usage.

What sparked your interest in how people react and respond to emerging biomedical technologies?

Cinnamon Bloss:
In graduate school (the clinical psychology program here in the UC San Diego School of Medicine) my thesis work was focused on a simple genetic association study—the role of a single gene in cognitive function in children. But around that same time, gene sequencing advances began to allow for genome-wide association studies. That’s when I thought—why study one gene, when I could study the whole genome?

Then direct-to-consumer genomic sequencing companies came on the scene. This became controversial because many people thought (and still do think) that genetic information—including risk for certain diseases—shouldn’t be presented directly to patients, without a physician acting as an intermediary. They worried that people would panic and we’d see a spike in unnecessary doctors’ visits and disease screenings. On the other side of the argument, many people think direct-to-consumer sequencing empowers patients, democratizing health care. That’s when I began to wonder… who’s right? How do people react and respond to their genomic information?

What does your research say about direct-to-consumer genomic sequencing?

CB: A few years ago, in a paper published in the New England Journal of Medicine, we examined psychological, behavioral and clinical effects among 2,000 people who had their genomes sequenced and were given the data to assess their own disease risks. We measured their anxiety levels, dietary fat intake and exercise behavior before genomic testing and four to eight months afterward. We also recorded any test-related distress and the use of health-screening tests after testing.

And funny thing—we found that the participants didn’t really make positive behavior changes at all! Nor did they stress about the test itself or seek additional screening tests. This is technically what we call a “negative” result, but I was invited to present these findings to the FDA Advisory Panel in order to help inform consumer genomics policy. It just goes to show that you can’t make assumptions about how people will react to new technology.

What about privacy concerns when it comes to our genomic data?

CB: When you sign up to have your genome sequenced with a direct-to-consumer company, you’re subject to the terms and conditions of that company. Sometimes you have a variety of options, including the option to give the sequencing company permission to access, share and even sell your information for research purposes or to other for-profit pharmaceutical companies. It’s up to the consumer to understand these options and to assess his or her personal comfort level.

Science magazine recently had a cover that read “Is this the end of privacy?” I’m interested in that question and how different people interpret it. So my next big project is on data privacy—all kinds of data, not just genomic. We want to determine how people define privacy and how they engage with the issue. We’ll also explore new tools to make privacy agreements more transparent and help people make more informed decisions about how to use a particular app or share their personal information.

What other emerging technologies are you studying?

CB: We’re making plans with collaborators to study responses to other emerging technologies, including wearable health monitors, gene editing in mosquitoes and microbiome sequencing.

If our microbiome study gets funded, we’ll be working with Rob Knight, Ph.D., and his lab in the School of Medicine. They run a crowdfunded, citizen science effort called the American Gut Project, in which people can have their own microbiomes sequenced. That is, they learn what types of microbes live where on their bodies, and how that makeup compares to other participants in the project. My biggest questions are: why do people seek out this information? Is it because they think it might help them deal with an illness? Or is it just curiosity? Do they share that microbiome information with their doctors? If so, what are doctors doing with this information?