For years, researchers have explored whether telling patients about their genetic risk for chronic disease might inspire those patients to reduce their risk through lifestyle changes, such as eating more healthfully, quitting smoking, or increasing their physical activity.
But the evidence hasn't panned out: two systematic reviews, published in 2010 and 2016, found no evidence that giving people DNA-based risk estimates for chronic disease changes behavior, and more recent research has shown the same.
Now, however, preliminary findings from a large Finnish study challenge the status quo — and the intervention is just different enough from past ones that this research may have "the potential to kick off the new generation of research and understanding on when genomic information can influence health behavior," according to Susan Persky, PhD, head of the Immersive Virtual Environment Test Unit at the National Human Genome Research Institute in Bethesda, Maryland.
The study found that high percentages of participants had lost weight and quit smoking a year and a half after learning their risk for ischemic heart disease, based on both traditional and genomic risk factors.
"It is encouraging that any sort of personalized intervention is achieving these results," Persky, who was not involved in the study, told Medscape Medical News. "Behavior is incredibly difficult to change over the long-term, using most sorts of interventions."
But the findings, presented at the European Society of Human Genetics meeting in Milan, Italy, in June, are preliminary, and the study itself has substantial limitations, including no control group. Still, the study suggests a new way forward in exploring the complexities of human behavioral change.
"Our study shows it is possible to motivate and support individuals to successfully reduce their disease risk and achieve sustained lifestyle change by applying a web-based tool to communicate and interpret complex disease risk data," lead author Elisabeth Widen, MD, a senior scientist at the University of Helsinki Institute for Molecular Medicine in Finland, told Medscape Medical News.
GeneRISK is a prospective longitudinal study in which 7328 southern Finnish participants, ages 45 to 65 years at baseline, learned their composite 10-year risk score for cardiovascular disease from the web-based tool KardioKompassi. The tool analyzed their traditional anthropomorphic and lifestyle risk factors, along with their polygenic risk, based on 49,000 single nucleotide polymorphisms.
The researchers focused on cardiovascular disease for several reasons, Widen told Medscape Medical News: it's common and severe, genetic factors explain half its risk variation in a population, and polygenic risk scores have been shown to improve risk prediction.
"Moreover, there are efficient means to reduce the risk, both through lifestyle changes and medical intervention, but nonetheless, the clinical use of polygenic risk information for disease prevention has remained minimal so far," Widen said.
The score's traditional factors included age, sex, cholesterol levels, smoking status, and blood pressure. When participants' scores were ready, they received a text message to log onto the web portal, where they could manage their information. KardioKompassi provided their results and advised patients with at least a 10% increased risk for heart disease to speak to their doctor about ways to reduce risk.
"KardioKompassi is interactive and displays personal disease risk in multiple different ways, showing the individual risk factors and the combined personal disease risk," Widen said.
Dramatic Lifestyle Changes 18 Months Later
At baseline, a quarter of the study population had increased cardiovascular disease risk, 40% of whom smoked and a third of whom were obese (body mass index > 30 kg/m2). Only 17% were taking medication to manage cholesterol. In the overall cohort, 20% of the men and 15% of the women smoked.
The follow-up data the researchers presented came from 3278 participants assessed 18 months later. Overall, 15% of average-risk smokers and 17% of high-risk smokers had quit smoking compared with 4% of smokers in the general population. Further, 12% of average-risk participants and 15% of high-risk participants had lost weight and kept it off.
More than a third (36.4%) of the high-risk participants had taken action to reduce their risk by losing weight, quitting smoking, and/or visiting their physician. Among those with lower risk, 20.5% took action.
The researchers then compared high-risk participants who took action vs those who didn't. "We found there wasn't any big difference in their risk profiles regarding age, sex, [body mass index], or smoking status," Widen told Medscape Medical News. "However, we did find that individuals who had undertaken action to lower their disease risk had a higher polygenic load than the others."
Participants' questionnaires revealed that 90% believed the risk information was useful and easy to interpret.
"The participants also said that receiving personal risk information encouraged them to take better care of their health, and a majority believed that clinical doctors are capable of interpreting and using genomic information in their work," Widen continued.
The extent to which participants had made lifestyle changes surprised the researchers, as did the participants' particular attention to their genomic data. Widen speculated that the genetic profile knowledge alone may have been particularly motivating or that the information's novelty played a role in lifestyle change decisions.
"Many of the study participants were aware that they had elevated cholesterol levels from before, whereas this was the first time their genetic risk profile was measured," Widen said.
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