Carl R. Woese Institute for Genomic Biology

In just a few decades, reading DNA has gone from the realm of science fiction to the commonplace. Genetic testing is an available tool in a growing number of healthcare contexts, as well as a relatively affordable direct-to-consumer product. Researchers at the Carl R. Woese Institute for Genomic Biology are asking how we can better understand the societal hopes and concerns people have about these technologies—and listening closely to members of the public to get answers.

A University of Illinois study published in Scientific Reports shares the outcomes of this engagement: a sampling of current public attitudes and considerations surrounding genetic testing, which researchers then synthesized into a novel survey tool to systematically and comprehensively explore those attitudes. Associate Professor of Political Science Aleks Ksiazkiewicz (GSP co-leader) and his collaborators were inspired to pursue this work by a previous lack of reliable ways to measure people’s concerns about the privacy of their genomic data.

"Part of what motivated us to do this study was a finding that folks are not consistently measuring privacy attitudes, that they're just asking it as a single question,” Ksiazkiewicz said. "Science is giving us this new lens for thinking about genetics, and it's important to understand people's attitudes and beliefs about that.”

Next generation genomic technologies have transformed the ability to obtain individual human genetic data a from a research project requiring years, hundreds of technicians, and billions of dollars to a service on par with the timing and affordability of other types of standard medical testing. Direct-to consumer genetic testing companies like 23andMe built a brand around providing trait predictions and ancestry analysis to interested individuals. When technologies develop this quickly, confusion and concerns naturally follow: people wonder how they work, how well they work, and how they will be used.

Ksiazkiewicz, who led the study, and his colleagues set out with two goals. First, they sought to understand present attitudes about genomic testing that are not captured by existing survey tools. Then they worked to develop and test their own comprehensive survey that they and other researchers can use going forward to better understand public attitudes toward current and future developments in genetic testing.

“It was really important to us to get a broad swath of the public and people from groups that have at different moments had negative experiences with the way their biological data are used, to understand their concerns,” Ksiazkiewicz said. “The process that we decided to use was to really go back to square one and say, okay, this is what experts say people should worry about with regard to genetics, but what are people actually worried about?”

After assembling a group of participants representing as many demographic groups as possible, and especially those groups who are more hesitant to participate in genetic and genomic research, the study team asked open-ended questions about concerns related to genetic testing. They also asked questions that reflected how well participants understood technical aspects of different types of testing. The researchers then categorized the responses by commonly expressed areas of concern, including regulation of genetic technologies, personal control of genetic data, and uncertainty about genetics.

These categories guided the group as they wrote a series of survey questions covering utility, inaccuracy, and privacy of genetic testing. In other words, are genetic data useful? Can they be misleading? How might they be inappropriately shared or used? The researchers tested these questions on a second cohort of participants and used the responses to refine the survey.

"One thing that we were particularly excited about, because we were doing this research from the perspective of a genomic security and privacy theme, was that privacy was one of the three dimensions that came out of the factor analysis, “Ksiazkiewicz said. “There was no guarantee that that was going to be the case, so the fact that that is actually one of the dimensions that seems to structure how people think about genetics seemed like a validation that we should keep pushing on this angle.”

Using their refined survey, the research team were able to detect nuances in public opinion about genetic privacy that individual questions included in previous surveys could not, and allowed for a detailed analysis of how demographic factors are associated with different attitudes. For example, individuals with greater background knowledge of genetics assigned a higher utility to genetic testing, but also had stronger privacy concerns on average.
Ksiazkiewicz hopes that data from future implementation of the survey will inform the development of better tools and informational resources for genomic technologies in healthcare. These data also have the potential to inform policy development.

"We're going to be applying they survey to try to understand how these concerns impact other kinds of public policy spaces, whether that's law enforcement use or differing intersections with identity,” Ksiazkiewicz said. “And to better understand different kinds of use cases and how people think about them . . . that's also exciting that we're discovering new wrinkles in how people think about genetics that we wouldn't have without this measure.”