The study highlights the poor clinical utility of germ-line testing in cancer patients of African descent

New research in the March 2023 issue of JNCCN-; Journal of the National Comprehensive Cancer Network It highlights how a lack of genomic research for people of African descent, particularly those from the sub-Saharan region, impedes efforts to reduce disparities among people with cancer. In a first-of-its-kind study, researchers evaluated the molecular genetic findings of 113 black South African men diagnosed with advanced prostate cancer to find evidence of increasing and unique genetic testing recommendations.

The researchers point out that according to the GLOBOCON 2020 studies, the regions of the world most affected by prostate cancer deaths include populations with significant African ancestry, such as the Caribbean and regions of sub-Saharan Africa, with mortality rates 3.4- and 2.5-fold higher, than reported in the United States. , respectively. Within the United States, African American men have a 2.3 to 5 times higher risk of developing prostate cancer than their non-African American counterparts.

Although men of African descent have the highest rates of aggressive prostate cancer and associated mortality globally, due to a lack of available data, specific testing criteria have not been established for this population at increased risk. This study opens the door to beginning to establish new standards, giving men of African descent hope that germline testing can alter current disparities in clinical outcomes.”

Kazem Ghaibi, MD, PhD, principal investigator, University of Sydney in Australia

Senior researcher Vanessa M. Hayes, PhD, from the University of Sydney and the University of Pretoria in South Africa: “The African diaspora is extremely diverse, so I would caution against treating the most genetically diverse populations in ‘individual’ terms.” What is required is a concerted effort at inclusion that takes a grassroots approach. We need to build standards based on the knowledge of the population. We encourage providers of cancer care and germline testing to establish an R&D arm designed specifically for African inclusion. We need to move away from a one-size-fits-all model of prostate cancer care; African solutions must address Africa-related disparities in prostate cancer outcomes.”

The study involved careful screening of 21,899 single-nucleotide variants, 4,626 small insertions and deletions, and 73 structural variants across 20 genes from 113 patients. After excluding variables that were initially known no To be carcinogenic, they found 38 mutations in 52 patients. A total of 17 pathogenic (4) and oncogenic (13) variants were identified. The rate of 5.6% of rare carcinogenic variants in this population was significantly lower than the established rate of 11.8% for non-African patients with confirmed metastatic prostate cancer, indicating the low sensitivity of current genetic panels for assessing risk in these patients.

Commented Samuel L. MD, M.S., Assistant Professor of Urology; Epidemiology and Biostatistics, University of California, San Francisco (UCSF) Helen Diller Comprehensive Familial Cancer Center, who was not involved in this research.

Dr. Washington, who is also a member of NCCN’s Clinical Practice Guidelines in Oncology (NCCN Guidelines®) panel for early detection of prostate cancer, he continued: “This study underscores two key areas: 1) it provides further evidence of the need for more comprehensiveness in the development of a genetic panel and 2) it recognizes that differences in outcomes for men of African descent can” be explained. Just by results in 113 black males in South Africa. Although the NCCN guidelines for early detection of prostate cancer identify Black/African Americans as a risk factor, the panel notes the contributions of poor access to care, social determinants of health/social risk, and heritable genes to these observations. I look forward to more research in this area that examines how the limitations of our current tools can be improved to better reflect the populations we serve. “

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