Clinical genetics laboratories use divergent demographic frameworks across countries: comparing data structures for race, ethnicity, and ancestry on test requisition forms

PurposeThe goal of this study is to investigate how population groups are represented on requisition forms for clinical genetic testing in different laboratories. MethodsClinical laboratory test requisition forms (RFs) were obtained from 70 laboratories in the US, Canada, Europe, and Australia. Details about the laboratories and how RFs represent patient demographics were extracted and analyzed for trends between forms in the U.S. (N=213) and other countries (N=203). ResultsClinical genetics laboratories included in the analysis vary widely regarding the format of demographic data collected on test requisition forms. US-based laboratory RFs are more likely than those from other countries to include race or ethnicity. These are most often represented as categorical data, with multiple-choice options. RFs from laboratories in other countries do not include race, and those that include ethnicity most often provide a blank space for open-ended responses. ConclusionsThese results are consistent with existing research on heterogeneity in the nomenclature and number of categories used to describe patient populations across clinical genetics laboratories in the US. It also suggests systemic differences in the way measures of diversity are conceptualized in the US compared to other countries.