Navigating the genetic landscape of breast cancer in South Africa amidst a developing healthcare system

Abstract

Breast cancer is a significant global health issue as it represents the leading cause of death in women worldwide. In 2021, the World Health Organization established the Global Breast Cancer Initiative framework with the aim to reduce the breast cancer mortality rate by the year 2040. In countries with developing healthcare systems, such as South Africa, the implementation of first-world technologies has been slow. We provide an overview of the strides taken to improve the cost-effectiveness of genetic service delivery for breast cancer patients in South Africa - from advances in the technology utilized for BRCA founder genotyping to variant screening in moderate-to high-penetrance genes. We furthermore reflect on research undertaken to improve accessibility by means of population-directed point-of-care genetic testing that is ideal for use in a primary healthcare setting. We also report on a pilot study utilizing exome sequencing at the intersection between research and service delivery. Finally, we discuss and conclude on the controversies, research gaps, and future prospects based on the most recent developments in first-world countries that are implementable in developing countries to improve early detection of breast cancer and overall disease management.

Screening and Testing for Homologous Recombination Repair Deficiency (HRD) in Breast Cancer: an Overview of the Current Global Landscape

“…The urbanization of African countries and the adoption of Western lifestyles are contributing to a projected doubling of the breast cancer burden in Sub-Saharan Africa between 2012 and 2030 [66]. In South Africa, public screening for somatic BRCA1/2 mutations is available for high-risk patients, but such screening programs are absent in many other African countries with less well-funded healthcare systems [67]. Additionally, genetic screening for breast cancer in South Africa has faced criticism for being tailored to the minority white population, underscoring the need for more inclusive and representative screening programs.…”