A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use—The P5 Study

Abstract

We present a method for communicating personalized genetic risk information to citizens and their physicians using a secure web portal. We apply the method for 3,177 Finnish individuals in the P5 Study where estimates of genetic and absolute risk, based on genetic and clinical risk factors, of future disease are reported to study participants, allowing individuals to participate in managing their own health. Our method facilitates using polygenic risk score as a personalized tool to estimate a person’s future disease risk while offering a way for health care professionals to utilize the polygenic risk scores as a preventive tool in patient care.

Psychosocial Effects of Receiving Genome-Wide Polygenic Risk Information Concerning Type 2 Diabetes and Coronary Heart Disease: A Randomized Controlled Trial

“…P5 is a personalized medicine project led by the Finnish Institute for Health and Welfare. The project combines genomic and traditional health data to evaluate participants’ risk for certain common diseases and then utilizes an internet portal to return the future disease risk estimates (see Marjonen et al, 2021 ). The current study extracted data from two time points in 2019–2020.…”

“…T2D risk was categorized to 4 levels (below 7.5% risk as low, 7.5–10% as elevated, 10–20% as high, and more than 20% as very high) and CHD risk in 3 levels (below 7.5% as low, 7.5–10% as elevated, and more than 10% as high). Participants also received information on selected single clinical variants (SCVs) related to CHD and venous thromboembolism (see Marjonen et al, 2021 for details). However, since the SCVs were not the main topic of the current study, respondents with one or more SCV were dropped from the final sample (n = 91).…”

“…The risk scores were presented as a number, accompanied with a short-written description of the risk score, and as a graph where participant’s risk was contrasted to the above-mentioned risk levels for the relevant disease (see Marjonen et al, 2021 for examples). In addition to the 10-years combined disease risk, the experimental group was provided with a graph showing their genome-wide polygenic risk scores separately.…”

“…In addition to the 10-years combined disease risk, the experimental group was provided with a graph showing their genome-wide polygenic risk scores separately. Also, a health report was given to all participants, which gave a more thorough explanation of the results and provided personal instructions on how the participants could influence their disease risk with lifestyle changes (see Marjonen et al, 2021 ). Finally, an interactive calculator was introduced, where respondents could test how changing their physical parameters (e.g., age) and lifestyle factors (e.g., smoking) would change their risk score (see Marjonen et al, 2021 ).…”

Reaching for Precision Healthcare in Finland via Use of Genomic Data

“…Several pilot studies on the use of genomic information for assessing a personalized total risk of common chronic diseases have been initialized in Finland and Estonia. The P5-study ( Marjonen et al, 2021 ) recruited 3,177 biobank participants to receive on-line feedback on their total individual risk of coronary heart disease, type 2 diabetes and venous thrombosis. The calculated risk included a polygenic risk score (PRS) and selected clinically important single variants.…”