Analysis of the genomic landscapes of Barbadian and Nigerian women with triple negative breast cancer.

PURPOSE: Triple negative breast cancer (TNBC) is an aggressive breast cancer subtype that disproportionately affects women of African ancestry (WAA) and is often associated with poor survival. Although there is a high prevalence of TNBC across West Africa and in women of the African diaspora, there has been no comprehensive genomics study to investigate the mutational profile of ancestrally related women across the Caribbean and West Africa. METHODS: This multisite cross-sectional study used 31 formalin-fixed paraffin-embedded (FFPE) samples from Barbadian and Nigerian TNBC participants. High-resolution whole exome sequencing (WES) was performed on the Barbadian and Nigerian TNBC samples to identify their mutational profiles and comparisons were made to African American, European American and Asian American sequencing data obtained from The Cancer Genome Atlas (TCGA). Whole exome sequencing was conducted on tumors with an average of 382 × coverage and 4335 × coverage for pooled germline non-tumor samples. RESULTS: Variants detected at high frequency in our WAA cohorts were found in the following genes NBPF12, PLIN4, TP53 and BRCA1. In the TCGA TNBC cases, these genes had a lower mutation rate, except for TP53 (32% in our cohort; 63% in TCGA-African American; 67% in TCGA-European American; 63% in TCGA-Asian). For all altered genes, there were no differences in frequency of mutations between WAA TNBC groups including the TCGA-African American cohort. For copy number variants, high frequency alterations were observed in PIK3CA, TP53, FGFR2 and HIF1AN genes. CONCLUSION: This study provides novel insights into the underlying genomic alterations in WAA TNBC samples and shines light on the importance of inclusion of under-represented populations in cancer genomics and biomarker studies.

Electronic medical record systems: A pathway to sustainable public health insurance schemes in sub-Saharan Africa.

Pubic health insurance schemes are usually set up by governments to provide cover for their insured populations against healthcare costs. These schemes are usually administered by a government agency and vary both in how they are funded and provide their services. A number of developing countries have introduced such schemes to minimise the impact of financial barriers to healthcare access by their populations. These schemes are expected to bridge the inequality in healthcare. A National Health Insurance Scheme has been in operation in Nigeria since 2005 to provide health cover for government employees and those in private institutions with no less than ten workers. There are similar schemes in a number of countries in sub-Saharan Africa. We conducted a literature review of publications on public health insurance schemes in sub-Saharan Africa to identify the challenges they encounter. We found 76 relevant publications. Although much have been published on these schemes, few have addressed the critical obstacles to effective implementation, management and sustenance in the unique environments we find in sub-Saharan Africa - where poor technological infrastructures, acts of forgery, counterfeiting and other forms of fraud are common. We highlight these challenges, using the scheme in Nigeria for reference. We discuss the potential role of robust electronic medical record (EMR) systems for sustainable schemes in such environments and describe some of the ways robust EMR systems could be used to mitigate the challenges posed by most of the peculiar problems associated with poor infrastructures.