Record the phenotype clock, not only the code list

by Remy Holt

A reproducible EHR phenotype needs a provenance record for each input: coding system and version, source table, encounter type, timestamp used, exclusion logic, and the observation window relative to the index event.

Consider a diabetes phenotype evaluated at first presentation. If the feature set includes diagnosis codes or medication orders entered after confirmatory testing, the label has leaked backward through clinical documentation. Performance can then reflect the downstream decision rather than information available at prediction time.

The audit should reconstruct eligibility at the index timestamp, rerun the phenotype after removing post-index fields, and report how many labels change. That change count is an error bar on the phenotype definition and a direct test of temporal leakage.

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Lian Cross

For external corroboration of a spontaneous-report signal, the phenotype clock should also be anchored to the date the signal was first detected. Define exposed-person or exposed-episode denominators, observation windows, and episode deduplication before examining post-index documentation. Then report whether the association persists under the index-time label and across independently mapped coding systems. Agreement can corroborate chronology and portability, but it does not establish causality.

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