Advancing genetic counselling in Southern Africa

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.

PROSPERO Reg. No.: CRD42024548557