Purpose: With the expansion of research utilizing electronic healthcare data to identify transgender (TG) population health trends, the validity of computational phenotype (CP) algorithms to identify TG patients is not well understood. We aim to identify the current state of the literature that has utilized CPs to identify TG people within electronic healthcare data and their validity, potential gaps, and a synthesis of future recommendations based on past studies.
Methods: Authors searched the National Library of Medicine's PubMed, Scopus, and the American Psychological Association PsycInfo's databases to identify studies published in the United States that applied CPs to identify TG people within electronic healthcare data.
Results: Twelve studies were able to validate or enhance the positive predictive value (PPV) of their CP through manual chart reviews (n = 5), hierarchy of code mechanisms (n = 4), key text-strings (n = 2), or self-surveys (n = 1). CPs with the highest PPV to identify TG patients within their study population contained diagnosis codes and other components such as key text-strings. However, if key text-strings were not available, researchers have been able to find most TG patients within their electronic healthcare databases through diagnosis codes alone.
Conclusion: CPs with the highest accuracy to identify TG patients contained diagnosis codes along with components such as procedural codes or key text-strings. CPs with high validity are essential to identifying TG patients when self-reported gender identity is not available. Still, self-reported gender identity information should be collected within electronic healthcare data as it is the gold standard method to better understand TG population health patterns.
Keywords: computational phenotype; electronic health records; gender identity; narrative review; transgender; transgender health.
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