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

Heidi Marjonen; Minttu Marttila; Teemu Paajanen; Marleena Vornanen; Minna Brunfeldt; Anni Joensuu; Otto Halmesvaara; Kimmo Aro; Mervi Alanne-Kinnunen; Pekka Jousilahti; Katja Borodulin; Seppo Koskinen; Tiinamaija Tuomi; Pirjo Ilanne-Parikka; Jaana Lindström; Merja K Laine; Kirsi Auro; Helena Kääriäinen; Markus Perola; Kati Kristiansson

doi:10.3389/fgene.2021.763159

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

Front Genet. 2021 Oct 29:12:763159. doi: 10.3389/fgene.2021.763159. eCollection 2021.

Authors

Heidi Marjonen^{1

2}, Minttu Marttila¹, Teemu Paajanen^{1

2}, Marleena Vornanen³, Minna Brunfeldt¹, Anni Joensuu^{1

2}, Otto Halmesvaara³, Kimmo Aro⁴, Mervi Alanne-Kinnunen¹, Pekka Jousilahti¹, Katja Borodulin^{1

5}, Seppo Koskinen¹, Tiinamaija Tuomi^{2

6

7

8

9}, Pirjo Ilanne-Parikka¹⁰, Jaana Lindström¹, Merja K Laine^{7

11}, Kirsi Auro^{1

4}, Helena Kääriäinen¹, Markus Perola^{1

2}, Kati Kristiansson^{1

2}

Affiliations

¹ Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.
² Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
³ Department of Social Research, Faculty of Social Sciences, University of Helsinki, Helsinki, Finland.
⁴ Negen Ltd., Helsinki, Finland.
⁵ Age Institute, Helsinki, Finland.
⁶ Abdominal Centre, Endocrinology, Helsinki University Hospital, Helsinki, Finland.
⁷ Folkhälsan Research Centre, Helsinki, Finland.
⁸ Institute for Molecular Medicine Finland, Helsinki, Finland.
⁹ Lund University Diabetes Centre, Lund University, Malmö, Sweden.
¹⁰ Finnish Diabetes Association, Tampere, Finland.
¹¹ Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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.

Keywords: P5 study; coronary heart disease; finhealth 2017 study; polygenic risk sore; precision population health; type 2 diabetes; venous thromboembolism; web portal.

Copyright © 2021 Marjonen, Marttila, Paajanen, Vornanen, Brunfeldt, Joensuu, Halmesvaara, Aro, Alanne-Kinnunen, Jousilahti, Borodulin, Koskinen, Tuomi, Ilanne-Parikka, Lindström, Laine, Auro, Kääriäinen, Perola and Kristiansson.

Publication types

Review