Characterizing subgroup performance of probabilistic phenotype algorithms within older adults: A case study for dementia, mild cognitive impairment, and Alzheimer's and Parkinson's diseases

Abstract

Objective: Biases within probabilistic electronic phenotyping algorithms are largely unexplored. In this work, we characterize differences in sub-group performance of phenotyping algorithms for Alzheimer's Disease and Related Dementias (ADRD) in older adults. Materials and methods: We created an experimental framework to characterize the performance of probabilistic phenotyping algorithms under different racial distributions allowing us to identify which algorithms may have differential performance, by how much, and under what conditions. We relied on rule-based phenotype definitions as reference to evaluate probabilistic phenotype algorithms created using the Automated PHenotype Routine for Observational Definition, Identification, Training and Evaluation (APHRODITE) framework. Results: We demonstrate that some algorithms have performance variations anywhere from 3 to 30% for different populations, even when not using race as an input variable. We show that while performance differences in subgroups are not present for all phenotypes, they do affect some phenotypes and groups more disproportionately than others. Discussion: Our analysis establishes the need for a robust evaluation framework for subgroup differences. The underlying patient populations for the algorithms showing subgroup performance differences have great variance between model features when compared to the phenotypes with little to no differences. Conclusion: We have created a framework to identify systematic differences in the performance of probabilistic phenotyping algorithms specifically in the context of ADRD as a use case. Differences in subgroup performance of probabilistic phenotyping algorithms are not widespread nor do they occur consistently. This highlights the great need for careful ongoing monitoring to evaluate, measure, and try to mitigate such differences.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This work was supported by the National Institute on Aging of the National Institutes of Health (3P30 AG059307-02S1)

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Data Availability

All data produced in the present study are available upon reasonable request to the authors

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