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Study Shows Consumers Get Basic Genetic Concepts after DTC Testing; Can they Explain it to Another?

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NEW YORK (GenomeWeb) – Customers of 23andMe and Pathway Genomics' previously available direct-to-consumer genetic testing services generally maintained their knowledge of basic genetics concepts before and after learning their test results, according to a recent analysis of data from the Personal Genomics Study (PGen).

However, the study published in Genetics in Medicine last week, also found that customers' confidence in how well they understood and could explain how genes affect health and the risk for diseases declined as they went through the consumer testing process. Importantly, the study also revealed that sharing results with a medical professional, such as a doctor or a genetic counselor, was associated with higher consumer confidence – or self efficacy – in understanding the material.

The study participants were recruited into PGen between March and July 2012. This was over a year before the US Food and Drug Administration sent its warning letter to 23andMe, after which the company stopped selling health-related test reports directly to consumers. After getting its own FDA letter following plans to sell spit kits for its DTC testing service through Walgreens, Pathway moved to a physician ordering model in 2010. "They made an exception for us and allowed the DTC model to continue temporarily, for the purposes of the study," the study's first author Deanna Alexis Carere, a doctoral candidate at the Harvard School of Public Health, told GenomeWeb over e-mail.

In a paper detailing the methods of the PGen study, researchers noted that 23andMe emailed its customers who had recently purchased its $99 testing service to tell them about the PGen Study and offered them the chance to participate. Pathway recruited new customers through a banner advertisement on its website and via an email to 30,000 members of the health social networking site PatientsLikeMe. Through both of these recruitment efforts, Pathway offered its testing service to those interested in participating in PGen for a subsidized price of $25.

Customers who agreed to partake in the study and have their test results shared with researchers were given three surveys. First, researchers gave participants a baseline survey after they ordered testing, in order to determine demographic information, gauge initial anxiety levels, their genetic literacy, and self efficacy. They administered a second survey two weeks after participants viewed their test results and a third six months later.

The fact that PGen participants were recruited from actual customers of DTC genetic testing services sets this analysis apart from other attempts to assess the impact of such information on consumers, according to Carere. A few years ago, a study by the Scripps Research Institute, for example, provided testing services from now defunct DTC firm Navigenics to Scripps Health employees, their family members, and to employees from health and technology companies in California. Similarly, the NIH's Multiplex Initiative offered genetic susceptibility testing for eight common health conditions to nearly 1,600 patients in the Henry Ford Health System.

But in PGen, "participants were recruited from among actual online users of personal genomic testing," Carere said. Additionally, because of the recruitment method within PGen, "participants underwent the normal, commercial model of [DTC testing] with no intervention by researchers."

In line with previously conducted studies, PGen also found that providing genetic testing results directly to consumers does not lead to significant changes in anxiety over their test results. "We have observed a general consistency of outcomes in the PGen study with prior studies, in particular with respect to the frequency of follow-up tests, exams, and procedures; frequency of sharing results with healthcare providers; and motivations for undergoing testing," Carere said. "So, our sample population seems generally in keeping with those of prior studies in this field."

However, PGen is unique, Carere said, in attempting to characterize consumers' "self efficacy" after testing for how well they understand genetic information, its impact on health and risk for diseases, and how well they feel they can explain this to others. "There exists no previous longitudinal study of genetic self-efficacy with which to compare our results," she said, noting she hoped others would explore the self-efficacy impact on people after receiving DTC genetic testing, so she could compare her group's findings.

Genetics knowledge

PGen launched in 2012 as an effort through which researchers would prospectively analyze the psychological and behavioral impact of personal genomics data by surveying customers who received results from either 23andMe or Pathway Genomics. Investigators from Harvard and Brigham and Women's Hospital have conducted a number of analyses from the PGen data to date.

The present analysis involved just under 1,000 new customers of 23andMe and Pathway during four months in 2012. The data showed that genetics knowledge among half the study participants stayed the same between the time before they received their DTC test results and six months after learning the results. Some participants improved their scores by one or two points between baseline and after six months, but most of them, around 80 percent, did pretty well at both time points with a score of eight or higher.

Study participants did the worst on one particular item that asked whether the statement, "most genetic disorders are caused by only a single gene," was true or false. At baseline and six months, less than 70 percent of participants correctly answered "false." That participants got this item wrong even after receiving DTC testing largely on complex conditions with many genetic and non-genetic risk factors, suggests that customers lack sophisticated understanding of the subject matter, the researchers wrote in the paper.

Overall, the study showed that genetics knowledge was higher if participants had higher levels of education, were younger in age, and not Hispanic or Latino. Furthermore, the study authors pointed out that genetics knowledge was "universally high" in the PGen study, suggesting that people who have high levels of genetics knowledge are more likely to seek DTC genetic testing services in the first place.

In their paper, Carere and colleagues wrote that there are few validated measures of genetic literacy, none of them were the right fit to assess a healthy population of consumers purchasing DTC genetic testing. So, the researchers selected nine true/false statements from existing surveys of genetics literacy.

"In fact, what we found was that our measure of genetics knowledge was probably too 'easy' for personal genomic testing consumers," Carere said. "The vast majority of participants did well both prior to and following testing, so more challenging measures are needed in order to observe dynamic knowledge levels over time."

While there are surveys for measuring low literacy populations, she noted that there isn't much motivation for developing analysis tools for White, literate, high-income populations that tend to seek out DTC genetic testing. In the study, more than 85 percent of participants were White, close to 80 percent had a college degree or higher education, and 43 percent earned more than $100,000 yearly. Still, from a research perspective, ways to measure literacy in this population will also be important, Carere noted.

Self efficacy

In comparing self-efficacy of study participants between baseline and six months after receiving results, Carere and colleagues reported that between 34 percent and 46 percent scored lower at the six-month follow up, while between 11 percent and 20 percent reported higher results.

One reason for this, the researchers said, could be that customers started off with "inflated perceptions" of their understanding. But after receiving lengthy DTC testing reports highlighting different types of risk factors and the limitations of genetic risk data used alone, perhaps participants "became aware of [the] previously unrecognized complexities of genetics," and became less confident in their grasp of the concepts. Alternatively, the researchers posited that the DTC testing services could have presented the data in an overly technical way, which in turn, lowered their understanding.

But Carere's group didn't try to answer this question in the paper, she said. "The two explanations are consistent with each other, and it’s really more about the consumer perspective," she said. "My best guess as to the explanation is that it is probably a little bit of both: some consumers likely come away from the experience with their eyes opened to the fascinating and complex world of genomics. They report reduced self-efficacy with genomics, but on the other hand they have learned a lot and probably feel that the experience was a beneficial one."

Meanwhile, other consumers could come of out of the DTC testing experience "rather bewildered by the pages of results they received," Carere continued. This could lead them to regret that they chose to undergo testing. In the study, regret over the decision to get tested was low, with close to 60 percent saying they had no regret.

Importantly, the study found that when patients discussed their test results with a healthcare professional, it was associated with higher self efficacy. But only around 350 participants shared their results with a medical professional, such as a primary care provider, a genetics specialist, or another type of specialist.

"Of course, this result came with a caveat," Carere noted. Researchers could not determine in this study how physician consultation was related to self efficacy, whether patient's had higher self efficacy because they reached out to a doctor, or if people shared their data with a doctor because they already had higher levels of self efficacy.

"Either way, I think everyone would agree that the message should be: Consumers, show your doctors your genetic testing results," Carere said, since they "could both learn something."

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