Launched by the federal government last year, the Precision Medicine Initiative (PMI) is a disease prevention and treatment model that is envisioned as linking unprecedented access to genetic information with the expanding reach of the internet to form research “cohorts” of racially and socially diverse subjects.1
“The idea is create a database and develop precision medicine where [researchers] will get samples and genotypes and they will link this data to medical records,” says Sarah M. Hartz, MD, PhD, assistant professor of psychiatry at the Washington University School of Medicine in St. Louis.
A major thrust of the program is to overcome the longstanding lack of inclusion of African-Americans and people on the socioeconomic margins in medical research. The hope is that PMI will recruit enough of these underserved groups to generate meaningful data on their risk factors and health challenges. One of the suggested incentives for participation is that research subjects will have access to their genetic data that is collected by PMI investigators. Information could be gathered and exchanged over the internet and via email and text, a PMI working group suggested.
However, Hartz had a question, and was ultimately surprised by the answer: Will internet-based approaches effectively engage participants from diverse racial and socioeconomic backgrounds? The answer is an unequivocal “no” based on a study by Hartz and colleagues, which found that participants’ initial enthusiasm to go online to get personalized genetic results faded into apparent disinterest by the time their saliva swabs had been decoded.
“I think [the findings] are directly relevant as we are talking about recruiting people for the PMI, with emphasis on recruiting underserved populations,” Hartz tells IRB Advisor. “They want to engage these people through the internet, so what can we do within those constraints to maximize engagement? This is when that has to happen or we are going to miss the boat.”
Hartz and colleagues recruited subjects into a genetic study of smoking, which was approved by the Washington University IRB. Participants were interviewed briefly about basic demographics and history and asked if they wanted to see their ancestral genetics as compiled by 23andMe. The research subjects were assisted in setting up an account on the website and 83% reported an existing email address. The remainder were assisted in setting up an email account and given a written copy of needed login information to see their genetic analysis results.
A total of 967 participants were recruited and offered genetic ancestry results. Of the participants, almost two-thirds told the researchers they were “very” or “extremely interested” in their genetic tests results. Yet for reasons not completely understood, when the genetic testing was available four to six weeks later, many participants did not follow through and view the results. Even after follow-up reminders that the results were available, it appeared that the subjects lacked the means or interest level to retrieve their genetic data.
“We [examined] the group of participants who said they were ‘very’ or ‘extremely’ interested in receiving their genetic ancestry results,” the researchers reported. “Surprisingly, even of these participants who expressed high interest, only 16% actually viewed their results.”
Among interested participants, 19% with a high school diploma viewed their results compared to only 4% without a diploma. Moreover, 22% of participants with household incomes above the federal poverty level viewed their results, compared to only 10% of those living in poverty.
“Despite high levels of initial expressed interest in their genetic ancestry results, we observed challenges with engaging participants from typically underrepresented groups, including individuals without a high school degree, individuals living below the federal poverty level, and African-Americans,” Hartz and colleagues concluded. “In addition, it is important to note that, even after adjusting for education and living below the poverty level, African-Americans were less likely to engage in our study than European-Americans.”
The researchers cited data estimating that 84% of American adults use the internet and 68% own a smartphone. However, the study did not ask the participants if they had convenient — or, for that matter, any — access to the internet.
“They needed to go online to view the results,” she says. “They could come back into our offices to access it there if they didn’t have a computer at home or didn’t want to go to a library. It surprised us, so we are now doing additional studies and asking more questions about how they use the internet to get a better sense of that. There were questions that we didn’t ask [in this study] that would have helped clarify this, but there certainly was the option to come back to our offices and log on there.”
Another possibility is that those with little education may not have understood the explanations on how to access the genetic information.
“We’re not sure what the barrier was — whether it was access or knowledge, or perhaps both,” Hartz says. “We were really surprised by the results, and had we come into it knowing what was going to happen, we would have definitely asked different questions to get a better sense of what the real barriers are. So that is what we are doing with the follow-up studies now.”
That said, 45% of participants who had a high school education, lived above the poverty line, and were either white or female accessed their genetic results, she says.
“That isn’t low for this kind of a study,” she says. “It still doesn’t align perfectly with all the people that said they were interested [in the genetic results], but it’s not uncommon for follow-up to be in that range for this kind of study.”
There is also the suggestion of a kind of quasi-Hawthorne Effect, wherein human behavior changes when it is observed. “They could have been saying they were more interested than they were because they were asked these questions in person,” she says.
- Precision Medicine Initiative (PMI) Working Group Report to the Advisory Committee to the Director, NIH. The Precision Medicine Initiative Cohort Program – Building a Research Foundation for 21st Century Medicine. September 17, 2015: http://bit.ly/1SyVW2w.
- Hartz SM, Quan T, Ibiebele A, et al. The significant impact of education, poverty, and race on Internet-based research participant engagement. Genet Med 2016;Jul 28. doi:10.1038/gim.2016.91. [Epub ahead of print]