Public understanding of and reactions to personalized genetic risk information: Results from the Coriell Personalized Medicine Collaborative

From the 60 interview transcripts analyzed in this study, the researchers found that most people appeared to have a good understanding of their results, although some had difficulty interpreting relative risk values. Participants tended to interpret their risks based on genetic test results combined with their own family and medical history. Although some participants were surprised to learn about an increased genetic risk for a disorder that was not in their family, no participants reported being overly concerned about their risks.

About one third of the study participants acted on the information provided in their report by changing their lifestyle and/or health habits, but most of the participants reported only slightly modifying healthy behaviors that they were already practicing (including eating a healthier diet, exercising, taking vitamins, or using sunscreen). Only a few participants said they initiated a new risk-reduction behavior. Those who reported no behavior change either felt they were already doing everything they could to reduce their risk, or did not feel their level of risk was high enough to warrant any changes.

Nearly half of the study participants reported that they shared their results with a physician, and most of the others said they were planning to share the results with their doctor at a future date. The participants shared their results based on the belief that doctors would be interested in knowing this information and it would aid them in providing appropriate recommendations to reduce disease risk. Most of the participants who shared their results believed that their doctor had a good understanding of the results. However, about a quarter of the study participants indicated that their doctor did not understand the results, or did not know what to do with them. Recommendations made by doctors (e.g., lose weight, test blood lipid levels, lower dietary fat) followed standard population recommendations.

"Through our interviews with individuals receiving information about their genetic risk for common complex health conditions, we found that most of the study participants had a good understanding of personalized test results predicting their disease risk," said Bernhardt. "We also found that these individuals were neither unduly worried nor falsely reassured by their results, and that they are likely to take steps to reduce risk that are aligned with the level of their disease risk."

Bernhardt noted that, "Further research is needed to determine if these positive outcomes are generalizable to broader populations, and whether they can be achieved when testing is not accompanied by the type of extensive pre- and post-test education made available through the Coriell project."

This research was presented at the American Society of Human Genetics 60th Annual Meeting, which was held November 2-6, 2010, in Washington, D.C.