Chimpolo Maria, Moosa Shahida, Silao Catherine Lynn T, Calumbuana Nasser, Kay Elka, Halim-Fikri Hashim, Kumar Dhavendra, Alwi Zilfalil Bin
From the Department of Biochemistry, Clinical Pathology and Genetics (Chimpolo, Calumbuana, Kay), Faculty of Medicine, Universidade A. Neto, Hospital Américo Boavida, Luanda; from the Department of Medical Basic Sciences (Chimpolo), Faculty of Medicine, Universidade Katyavala Bwila, University Campus of Catumbela, Benguela;from Division of Molecular Biology and Human Genetics (Moosa), Stellenbosch University, Cape Town, South Africa; from the Institute of Human Genetics, National Institutes of Health and Department of Pediatrics (Silao), College of Medicine and Philippine General Hospital, University of the Philippines-Manila, Manila, Philippines; from Malaysian Node of the Human Variome Project (Halim-Fikri), School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia; from the Department of Cardiovascular Genomics (Kumar), William Harvey Research Institute, Bart's and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; from the Human Genome Centre (Zilfalil), School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.
Saudi Med J. 2025 Apr;46(4):335-344. doi: 10.15537/smj.2025.46.4.20240370.
OBJECTIVES: To critically evaluate the current status quo of genetic counseling in Southern Africa by uncovering grey areas in their integration within national healthcare systems. It pinpoints the need for improved genetic education and healthcare inclusivity to advance genomic medicine and precision healthcare for underserved populations by analyzing policy frameworks, infrastructure, education, and initiatives. METHODS: A systematic review following PRISMA guidelines examined studies on genetic testing in Southern Africa from 2008 to 2023. Searches in databases such as PubMed, Scopus, and Web of Science employed keywords and MeSH terms. A 2-tiered screening process selected studies, and extracted data were organized into a comprehensive overview. The Cochrane Collaboration tool assessed bias in individual studies. RESULTS: Of 1,876 initial studies, 42 met inclusion criteria. Participants ranged from genetic counselors and patients to general practitioners. Risk of bias assessment revealed that 21.4% of studies had a high risk of bias, often due to inadequate blinding and incomplete data, while 29% showed a low risk of bias. Key findings identified barriers such as limited resources, education gaps among healthcare professionals, and cultural challenges. CONCLUSION: Genetic counseling shows potential to advance patient knowledge and informed decision-making in Southern Africa. Addressing challenges through targeted research, education, and policy reforms is essential for integrating genetic healthcare into regional systems. Despite limitations, this review underscores genetic counseling's fundamental role in improving healthcare strategies and patient outcomes across Angola and other Southern African countries..
目标：通过揭示基因咨询在融入国家医疗体系过程中的灰色地带，严格评估南部非洲基因咨询的现状。通过分析政策框架、基础设施、教育和倡议，指出需要加强基因教育和医疗包容性，以推进针对服务不足人群的基因组医学和精准医疗。 方法：按照PRISMA指南进行系统综述，研究2008年至2023年南部非洲的基因检测研究。在PubMed、Scopus和Web of Science等数据库中进行检索，使用关键词和医学主题词。采用两级筛选过程选择研究，并将提取的数据整理成全面概述。Cochrane协作工具评估个体研究中的偏倚。 结果：在1876项初始研究中，42项符合纳入标准。参与者包括基因咨询师、患者和全科医生。偏倚风险评估显示，21.4%的研究存在高偏倚风险，通常是由于盲法不足和数据不完整，而29%的研究显示低偏倚风险。主要发现确定了资源有限、医疗专业人员教育差距和文化挑战等障碍。 结论：基因咨询在提高南部非洲患者知识水平和促进知情决策方面具有潜力。通过有针对性的研究、教育和政策改革应对挑战，对于将基因医疗纳入区域体系至关重要。尽管存在局限性，但本综述强调了基因咨询在改善安哥拉和其他南部非洲国家医疗策略和患者结局方面的基本作用。
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