Objectives Personal and familial knowledge of genetic predispositions, especially BRCA1/2 deleterious mutations, have increasing implications in cancer prevention and outcomes. [1, 2] Lack of genetic testing is a barrier to global health equity. We explored the current state of genetic testing throughout the world and assessed regional variabilities.
Methods Guidelines for BRCA testing were found in publications, position papers, and online documents that outline testing criteria through a non-systematic literature review conducted by two certified cancer genetic counselors. Six categories for testing BRCA were created to capture the wide breadth of testing standards worldwide (table 1). [3–16]
Results Worldwide variability in BRCA testing persists even in regions with codified guidelines. Even regions with the economic structure to support widespread testing and clearly defined guidelines, (i.e. United States and United Kingdom) are undertesting for BRCA. Accessibility of these guidelines alone poses a regional difficulty not only for public knowledge and awareness, but uniform practice among healthcare providers.
Conclusions Global assessment of BRCA-directed guidelines are tremendously variable; therefore, formalized global guidelines are needed to expand access to testing, thereby improve health equity and patient outcomes. Lack of implementation even in Category-1 regions, highlights the need for greater awareness of guideline recommended care, and additional strategies to ensure optimized guideline adherence coverage.
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