Diagnostic germline genetic variant classification requires more
equitable representation in reference databases
Abstract
Germline genetic testing can aid in difficult diagnostic workups but may
reveal variants of unknown significance (VUS), which do not alter
patient management or provide definitive diagnoses and may worsen stress
on patients and families. VUS are more prevalent in underrepresented
populations given their absence in large scale genomic studies. We
describe seven pediatric hematology/oncology patients seen in the highly
diverse Bronx County in New York City in which VUS or novel pathogenic
variant identification influenced clinical management and outcomes.
These cases highlight the importance of incorporating underrepresented
populations into genomic databases to improve variant characterization
and address healthcare disparities.