Do current family history-based genetic testing guidelines contribute to breast cancer health inequities?

Prior to the recommended age for population-based breast cancer screening by mammography, which ranges from 40-50 years depending on guidelines, the main way to identify higher risk women for earlier breast cancer (BC) screening to improve outcomes and discuss targeted chemoprevention is through specific clinical guidelines which are largely based on family history of breast cancer and known mutations in breast cancer susceptibility genes. The annual percent change (APC) in early-onset BC continues to rise, with the higher early-onset cancer burden and mortality continuing to be seen in non-Hispanic black (NHB) women compared to non-Hispanic white (NHW) women. Coupled with the increasing incidence overall as well as the lower percent of BC family history reported in NHB women compared with that of NHW women means that continued reliance on guidelines to identify women for genetic screening and initiation of early BC screening based largely on family history could lead to even greater BC health inequities. The similarity in the prevalence of mutations in key BC susceptibility genes between NHB and NHW women contrasts sharply to the differences in age-specific incidence rates between NHB and NHW women, supporting that there must be environmental modifiers that are contributing to the increased incidence in NHB women. This reality further argues for identifying NHB women early in adulthood through genetic testing who may benefit from tailored BC risk-reduction programs and early BC screening.

Automated summary

Before the recommended age for mammography-based breast cancer screening, identifying high-risk women for early screening and targeted chemoprevention mainly relies on clinical guidelines based on family history and known mutations. However, relying solely on guidelines could exacerbate breast cancer health disparities. Non-Hispanic black women continue to experience higher rates of early-onset breast cancer and mortality, while reporting lower rates of family history compared to non-Hispanic white women. This highlights the importance of genetic testing to identify high-risk non-Hispanic black women early on for tailored risk reduction and screening programs.