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

Heidi Marjonen, M. 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

2021Frontiers in Genetics21 citationsDOIOpen Access PDF

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.

Topics & Concepts

Polygenic risk scoreHealth careMedicineDiseasePatient portalPersonalized medicineWeb applicationComputer scienceBioinformaticsWorld Wide WebInternal medicineGeneticsBiologyEconomicsGenotypeGeneSingle-nucleotide polymorphismEconomic growthGenetic Associations and EpidemiologyBRCA gene mutations in cancerNutrition, Genetics, and Disease
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