Detection and Validation of Hidden Subgroup Disparities in Clinical AI
Authors: Alceu Bissoto, Trung-Dung Hoang, Tim Flühmann, Nina Weng, Susu Sun, Christian F. Baumgartner, Lisa M. Koch
Organizations: Department of Digital Medicine, University of Bern, Switzerland · Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Bern University Hospital, Switzerland · Diabetes Center Berne, Switzerland · Technical University of Denmark, Denmark · Cluster of Excellence: Machine Learning - New Perspectives for Science, University of Tübingen, Germany · Faculty of Health Sciences and Medicine, University of Lucerne, Switzerland
Machine learning (ML) models used in clinical workflows often perform systematically differently across patient groups, raising concerns about equity and patient safety. Traditional subgroup analyses can expose such disparities only when rich metadata (e.g., patient demographics) is available and captures the sources of performance variation, conditions rarely met in practice. Algorithmic subgroup discovery methods offer a solution by identifying coherent groups from learned feature representations, but because true underlying stratifications are unknown, these methods are hard to evaluate. As a result, subgroup discovery has not been systematically applied or assessed for performance monitoring. Our main objective is to evaluate algorithmic subgroup discovery for performance monitoring, assessing the discovered subgroups' performance gaps and semantic coherence. Investigating cardiomegaly classification in a dataset of 223,228 chest X-rays, we showed that the discovered subgroups exhibited larger performance gaps (accuracies of 0.61-0.90) than traditional metadata-based analysis (0.80-0.94) and were frequently interpretable using patient, acquisition, and model metadata. As a proof of concept, we also showed that annotations from learned subgroups can be used to mitigate the biases they expose. We conclude that subgroup discovery is a practical and effective tool to enhance the performance validation and monitoring of ML systems in healthcare.
Figures & tables
Figure 1: From traditional subgroup analysis to algorithmic subgroup discovery for performance monitoring. (a) Traditional subgroup analysis detects disparate patient outcomes, but it is limited to annotated metadata. (b) Subgroup discovery reveals hidden stratifications but lacks performance validation. (c) We bridge this gap by applying subgroup discovery for performance analysis in both (d) controlled synthetic settings and (e) real-world scenarios with unknown subgroups.
Metadata Subgroups
Sample Size
Accuracy
Sensitivity
Specificity
AUROC
Full dataset
22,281
0.872±0.005
0.471±0.018
0.936±0.004
0.856±0.007
Sex: Male
13,134
0.875±0.006
0.479±0.023
0.938±0.004
0.859±0.009
Sex: Female
9,127
0.866±0.007
0.459±0.028
0.932±0.006
0.850±0.011
Age: 0–60
10,032
0.905±0.006
0.510±0.030
0.952±0.005
0.880±0.011
Age: 60+
12,229
0.844±0.007
0.449±0.022
0.921±0.005
0.832±0.010
Race: White
12,635
0.870±0.006
0.430±0.024
0.936±0.005
0.845±0.010
Table 1: Traditional subgroup analysis. Subgroup performance metrics reported as value ± half 95% CI. PA = posterior-to-anterior, AP = anterior-to-posterior.
Figure 2: Performances of discovered subgroups (blue) and traditional metadata subgroups (red). Filled points indicate statistically significant performance disparities from its complement. For each group, we show their size (A), cardiomegaly class ratio (B), and their performance in prevalence-dependent (C) and independent (D-F) metrics.
Figure 3: Characteristics of discovered subgroups. (A) Discovered subgroup’s metadata profile. Each subgroup (column) is characterized by a set of metadata (row), and its effect (cells) is measured by Cohen’s h for categorical values and Cohen’s d for continuous ones. (B) This characterization enables us to understand the subgroups, identify key characteristics important to the classification models, and create performance gaps. For a few selected subgroups, we show four randomly selected images from this group, and their most distinctive characteristic.
SG
Category
Description
Accuracy
Sensibility
Specificity
AUROC
A5
Positive preds
0.612±0.030
0.984±0.010
0.017±0.014
0.668±0.034
A0
High BMI, males
0.886±0.028
0.103±0.097
0.952±0.019
0.766±0.063
A12
Males, unknown
0.909±0.017
0.371±0.094
0.963±0.012
0.849±0.038
A9
Females, positive preds, support devices
0.771±0.028
0.586±0.066
0.829±0.029
0.809±0.031
A8
Support devices, interpreter needed
0.890±0.018
0.369±0.074
0.964±0.011
0.844±0.029
A6
–
Unknown
0.876±0.010
0.224±0.037
0.962±0.006
0.823±0.018
Table 2: Performance by discovered subgroups. Subgroups are categorized into patient ( ), acquisition ( ), and model ( ) factors. Values are mean ± 95% confidence-interval half-width. PA = posterior-to-anterior, AP = anterior-to-posterior.
Figure 4: Sanity checks of subgroup discovery. (A) Effects of known simulated artifacts. Subgroup discovery successfully dedicates subgroups for each possible combination of the presence of the two artifacts. (B) Random samples from the found subgroups. (C) Detailed subgroup accuracies, reproduced from [ 4 ] . Darker dots represent found subgroups with higher effects. These capture the true performance gap characterized by hidden subgroups, which are overlooked by traditional subgroup analysis based on a single artifact (known subgroups), and by overall performance.
SG
Category
Description
Accuracy
Sensibility
Specificity
AUROC
B4
Lateral
0.804±0.033
0.432±0.091
0.896±0.029
0.810±0.044
B0
Young, healthy, lateral
0.919±0.014
0.317±0.075
0.977±0.008
0.839±0.035
B1
Lateral, no support devices
0.839±0.020
0.528±0.064
0.904±0.018
0.814±0.030
B6
PA, healthy, negative preds
0.944±0.013
0.258±0.104
0.979±0.008
0.855±0.043
B2
Positive preds
0.608±0.026
0.961±0.014
0.104±0.026
0.668±0.030
B9
Pacemaker, PA, positive preds
0.730±0.042
0.775±0.060
0.698±0.056
0.815±0.038
Table 3: Discovered subgroups using BioMedCLIP at threshold 0.5. Subgroups are categorized into patient ( ), acquisition ( ), and model ( ) factors. Metrics are reported as mean ± half 95% CI. PA = posterior-to-anterior.