Health Disparities in Germline Genetic Testing for Cancer Susceptibility

Despite advances in testing for heritable cancer susceptibility gene mutations, health disparities persist. We review racial/ethnic and socioeconomic factors that affect access to genetic counseling and testing, which may influence the validity of results among diverse populations and the clinical utility of genetic testing. Differential access to genetic testing among racial/ethnic minorities including Hispanics and blacks compared with whites drives disparities in the clinical validity of results: specifically, variants of unknown significance (VUS) are notably more prevalent in minorities. Deficiencies in results interpretation by patients and providers are common with VUS, which may engender disparities in clinical utility. There is evidence of racial/ethnic disparities in genetic testing access and the clinical validity of results, which are threats to the clinical utility of testing for all populations. Concerted efforts are needed to decrease disparities in germline cancer genetic testing and results’ interpretation and management.