Beyond the One-Size-Fits-All: A Deep Learning Method to Identify Subgroup-Specific Biomarkers of COPD
Conference
65th ISI World Statistics Congress 2025
Format: IPS Abstract - WSC 2025
Keywords: data integration, deep-learning, interpretability, multimodal_data, social, variable selection
Session: IPS 818 - High-Dimensional Statistical Analysis in Precision Medicine
Monday 6 October 2 p.m. - 3:40 p.m. (Europe/Amsterdam)
Abstract
The heterogeneity of chronic obstructive pulmonary disease (COPD) and other complex diseases has spurred efforts to leverage multiomics and phenotypic data to identify biomarkers of disease risk and progression, to better understand the underlying physiology. These attempts focus mainly on the general population, use few molecular factors, hardly account for social determinants of health (SDoH), and establish simple associations, limiting ability to better characterize health for disadvantaged populations. We propose a broader, systems level perspective centered on the totality of SDoH, multiomics, and phenotypic data, using innovative interpretable deep learning (DL) methods to better understand and help address health disparities in COPD and other complex diseases. Our proposed DL method jointly integrates data from multiple sources and predicts a clinical outcome while yielding common and subgroup-specific variable selection and encouraging fairness with respect to sensitive attributes (e.g., sex). Simulations are used to demonstrate the effectiveness of the proposed and other methods in the literature. Real data analyses are conducted to identify sex- and SDoH- (e.g., social economic status) specific multiomics markers of COPD.