Evidence map›Paper›PMID 40254330›Full record

SynthesisSaudi medical journal2025

Advancing genetic counselling in Southern Africa: Unveiling opportunities for inclusive healthcare and genomic education for Angola.

Maria Chimpolo, Shahida Moosa, Catherine Lynn T Silao, Nasser Calumbuana, Elka Kay, Hashim Halim-Fikri, Dhavendra Kumar, Bin Alwi Zilfalil

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Saudi medical journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Maria ChimpoloFrom 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.
Shahida MoosaFrom 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.
Catherine Lynn T SilaoFrom 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.
Nasser CalumbuanaFrom 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.
Elka KayFrom 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.
Hashim Halim-FikriFrom 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.
Dhavendra KumarFrom 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.
Bin Alwi ZilfalilFrom 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.ORCID https://orcid.org/0000-0001-5055-7892

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo 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.

methodsA 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.

resultsOf 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.

conclusionGenetic 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.

Indexed as

Delivery of Health CareGenetic CounselingGenomicsAfrica, SouthernAngolaGenetic TestingHumansAngolaGenetic counselinggenetic disease managementgenomic educationhealthcare barriersSouthern Africa

Identifiers

PMID40254330
PMCPMC12010490

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.