Scientific Reports
2026
Featured
Establishing non-fasting lipid reference intervals and clinical decision limits in a senegalese adult cohort
El Hadji Malick Ndour, Andrea Regina Gnilane Sene, Jean Pascal Demba Diop, Rokhaya Dione, Cheikh Ahmed Tidiane Ly, Souleymane Diallo, Fatou Kiné Ndiaye, El Hadj Ousmane Sene, Coumba Kamby, Fatou Diop, Sokhna Mara, Amadou Sall, Alioune Deme, Macoura Gadji, Amadou Gaye, Rokhaya Ndiaye Diallo & Aynina Cisse
Non-fasting lipid profiling is now widely recommended; however, reference intervals (RIs) are notably lacking in sub-Saharan Africa, particularly for emerging lipid biomarkers (non-HDL-C, sdLDL-C, TRL-C). This study aimed to establish these values in Senegal and propose pragmatic clinical decision thresholds. As part of the SEN-GENOME project, we conducted a study involving 746 adults, including a reference subgroup of 241 strictly healthy individuals. Non-fasting specimens were collected to analyse conventional and emerging lipid parameters using the Sampson-NIH equation. RIs were calculated in accordance with the CLSI EP28-A3c protocol. The upper reference limit for triglycerides 2.73 mmol/L confirms the clinical tolerance of the non-fasting state. However, the statistical RIs (2.5–97.5th percentiles) for total cholesterol and LDL-C significantly exceeded the NCEP ATP III risk thresholds. Furthermore, the general population’s values exhibited a marked metabolic drift compared to the healthy reference group. Strict reliance on statistical RIs risks normalising atherogenic profiles. We advocate for the adoption of clinical decision thresholds based on the median (optimal threshold) and the 75th percentile (alert threshold) for extended lipid profiling. This approach, including emerging lipid parameters, is essential for improving early cardiovascular risk detection.
DOI:
https://doi.org/10.1038/s41598-026-68273-4
American Journal of Human Genetics
2024
Featured
Toward building a comprehensive human pan-genome: The SEN-GENOME project
Amadou Gaye
Andrea Regina G. Sene
Macoura Gadji
Alioune Deme
Aynina Cisse
Rokhaya Ndiaye
The human reference genome (GRCh38), primarily sourced from individuals of European descent, falls short in capturing the vast genetic diversity across global populations. Efforts to diversify the reference genome face challenges in accessibility and representation, exacerbating the scarcity of African genomic data crucial for studying diseases prevalent in these populations. Sherman et al. proposed constructing reference genomes tailored to distinct human sub-populations. Their African Pan-Genome initiative highlighted substantial genetic variation missing from the GRCh38 human reference genome, emphasizing the necessity for population-specific genomes. In response, local initiatives like the Senegalese Genome project (SEN-GENOME) have emerged to document the genomes of historically overlooked populations. SEN-GENOME embodies community-driven decentralized research. With meticulous recruitment criteria and ethical practices, it aims to sequence 1,000 genomes from 31 ethnolinguistic groups, in the fourteen administrative regions of Senegal, fostering local genomic research tailored to the region. The key to SEN-GENOME’s success is its commitment to local governance of data, capacity building, and integration with broader pan-genome projects in Africa. Despite the complexities of data harmonization and sharing, our collaborative efforts are aligned with common goals, ensuring steady progress toward a comprehensive human pan-genome. We invite and welcome collaboration with other research entities to achieve this shared vision. In summary, local initiatives such as SEN-GENOME are pivotal in bridging genomic disparities, offering pathways to equitable and inclusive genomic research. Collaborative endeavors guided by a collective vision for human health will propel us toward a more encompassing understanding of the human genome and better health through genomic medicine.
DOI:
https://doi.org/10.1016/j.ajhg.2024.08.017
