Saved in:
Bibliographic Details
Main Authors: Wharrie, Sophie, Yang, Zhiyu, Ganna, Andrea, Kaski, Samuel
Format: Preprint
Published: 2023
Subjects:
Online Access:https://arxiv.org/abs/2304.05010
Tags: Add Tag
No Tags, Be the first to tag this record!
Table of Contents:
  • Family history is considered a risk factor for many diseases because it implicitly captures shared genetic, environmental and lifestyle factors. Finland's nationwide electronic health record (EHR) system spanning multiple generations presents new opportunities for studying a connected network of medical histories for entire families. In this work we present a graph-based deep learning approach for learning explainable, supervised representations of how each family member's longitudinal medical history influences a patient's disease risk. We demonstrate that this approach is beneficial for predicting 10-year disease onset for 5 complex disease phenotypes, compared to clinically-inspired and deep learning baselines for Finland's nationwide EHR system comprising 7 million individuals with up to third-degree relatives. Through the use of graph explainability techniques, we illustrate that a graph-based approach enables more personalized modeling of family information and disease risk by identifying important relatives and features for prediction.