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When algorithms infer gender: revisiting computational phenotyping with electronic health records data
Jessica Gronsbell1, Hilary Thurston2, Lillian Dong3
1Department of Statistical Sciences, University of Toronto, Toronto, M5G 1X6, ON, Canada. j.gronsbell@utoronto.ca.
Biology of Sex Differences
|December 31, 2025
Summary
Computational phenotyping uses algorithms to infer gender from electronic health records (EHRs), improving data for underrepresented groups. However, this method raises significant ethical and methodological concerns regarding potential misuse.
Area of Science:
- Biomedical Informatics
- Health Informatics
- Computational Epidemiology
Background:
- Electronic health records (EHRs) often lack comprehensive gender data, hindering research on specific populations.
- Computational phenotyping offers a method to infer gender using existing EHR data.
- This approach aims to enhance the inclusion of transgender and gender-expansive individuals in research.
Purpose of the Study:
- To conduct a narrative review of computational phenotyping for gender in EHRs.
- To critically examine the methodological and ethical challenges associated with this approach.
- To propose future research priorities and highlight existing recommendations.
Main Methods:
- Narrative literature review.
- Critical analysis of computational phenotyping methodologies for gender inference.
- Examination of ethical implications and potential misuse of algorithm outputs.
Main Results:
- Computational phenotyping can address data gaps in EHRs regarding gender.
- Significant methodological challenges exist in algorithm development and validation.
- Ethical concerns include potential for misgendering and misuse of inferred data.
Conclusions:
- Computational phenotyping is a valuable tool but requires careful implementation.
- Addressing ethical and methodological concerns is crucial for responsible use.
- Further research is needed to ensure equitable and accurate application in biomedical research.
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