Introduction:
Germline genetic testing can reveal variants that are pathogenic, benign, or of uncertain significance (VUS). Reference genome databases used to assign pathogenicity are largely composed of data from patients of European ancestry and significantly lack input from the remainder of the world population (Fig. 1)1. Over 86% of all participants in genome-wide association studies (GWAS) in 2023 are of European ancestry, and only 1% are of African or Hispanic ancestry. Patients of underrepresented descent are more likely to carry VUS than white patients, which may be explained by their relative absence from these databases2–4. Inequitable representation may impact the care of many of these patients. We describe seven pediatric hematology/oncology patients recently seen in our pediatric hematology-oncology clinic located in Bronx County, New York City, where only 8.7% of the community identifies as white5. Unusual clinical findings prompted germline genetic testing that identified VUS or novel pathogenic variants in clinically relevant genes, prompting alterations in treatment and outcomes.