DELRAY BEACH, FL – Since the discovery of hereditary cancer in the 1800s and the development of genetic testing in the 1990s, research has further expanded the concept of precision medicine and individualized care for patients based on their genomic sequence. Even with these advances, “genetic testing has not benefited everyone equitably, with nearly all of the published work based on individuals of non-Hispanic White/European ancestry. There remains a gap in knowledge regarding the prevalence, penetrance, and manifestations of common hereditary cancer syndromes in the African-American population due to significant disparities in access and uptake of genetic testing.”¹

Breast Cancer

With incidence rates approximately 16% higher in African-American (AA) women than in Non-Hispanic White (NHW) women, breast cancer is the second leading cancer among AA women causing a mortality rate that is 42% higher than in NHW patients.¹ This mortality rate is thought to be caused by delayed diagnosis and individual tumor characteristics. “Rates of genetic testing for individuals who meet guidelines for BRCA1/2 testing remain suboptimal across all populations despite access and insurance coverage. However, compared with other races and ethnicities, African-American patients with breast cancer have lower rates of referral for genetic evaluation.”¹ This does not mean that AA women are reluctant to have genetic testing performed. Studies have shown that AA women are interested in genetic testing and have more positive attitudes about the benefits of genetics testing than NHW women.¹ “Equitable access to genetic services, including increased genetic education and awareness as well as appropriate referrals and insurance coverage, is key to the use of these services by African-American women.”¹

Prostate Cancer

Prostate Cancer is not only the most common cancer diagnosis in AA men, but AA men are more likely to have aggressive disease versus NHW men and is the second highest cause of cancer-related death.¹ With more predisposition genes discovered, more targeted treatments are now available for specific pathogenic variants associated with prostate cancer.  “Moreover, therapeutic clinical trials are increasingly using germline BRCA1/2 mutation carrier status to determine participant eligibility.”¹ Data regarding genetic testing practices in AA men are lacking, but “an overwhelming majority of subjects (87%) responded that they would like to have a genetic test for hereditary prostate cancer. This response did not vary by age, education, or family history.”¹ Without genetic testing in AA men with prostate cancer, these patients could be missing crucial knowledge about targeted treatment and face a decreased chance of survival.

Barriers to genetic testing and the overall racial disparity of genetic information has come to the forefront of research recently, even though there is a lot of work yet to be done. Genetic companies are starting to offer payment assistance programs to help patients with little to no insurance coverage, as well as aiding in genetic test collection by sending kits directly to patient homes. Even with these attempts to close the disparity gap, “the prevalence of systemic and implicit biases within healthcare organizations continues to cause healthcare providers to act as gatekeepers for genetic testing, resulting in lower referral rates for genetic services in African Americans compared to NH Whites…As precision medicine is rapidly incorporated into every area of medicine, genetic testing will continue to have practice implications for both patients and health care providers.”¹