Table 2.

Description of the Key Research Articles

Title of article	First author	Affiliation of first author	country	year of publication	Study design	genetic condition	Genetic service	Summary of research
Anticipated ethical challenges with growing molecular prenatal diagnosis in Nigeria	Tahir [24]	Department of Medical Microbiology, Kaduna State University, Kaduna, Nigeria.	Nigeria	2017	Review	Molecular prenatal diagnosis	Prenatal diagnosis	Prenatal diagnostic testing (PDT) is increasingly popular in Nigeria, allowing mothers to detect genetic disorders in their unborn babies. However, ethical concerns arise regarding counselling, sample collection methods, and justification for the tests. There are also ethical dilemmas related to whether to consider abortion if the foetus is affected. This paper explores the ethical issues of genetic testing concerning the foetus, pregnant woman, society, counselling, and informed consent.
Barriers and Facilitators of Premarital Genetic Counselling for Sickle Cell Disease in Northern Nigeria	Galadanci [25]	Department of Hematology, Bayero University/Aminu Kano Teaching Hospital, Nigeria	Nigeria	2023	qualitative study	SCD	Premarital genetic counselling	Premarital genetic counselling for Sickle Cell Disease is not available in Nigeria. This study was conducted to understand the attitudes and beliefs towards SCD and premarital genetic counselling. Lack of knowledge, testing facilities, transportation, and stigma associated with the disease are barriers to premarital testing. However, there is a willingness within the community to receive premarital testing for SCD.
Breast Cancer in Africa ~ Limitations and Opportunities for Application of Genomic Medicine	Allison Silverstein [26]	Rwanda Military Hospital, Kigali, Rwanda	Rwanda	2016	commentary	Breast cancer	Genetic testing for cancer	Genomic medicine is not applied enough in low-income areas, causing health disparities. Breast cancer is a leading cause of cancer incidence and mortality in Africa, yet there is a lack of research into genetic determinants of the disease-specific to African populations. There is a need to strengthen research efforts and support new initiatives to integrate genomic medicine into breast cancer care in Africa. This will enable tailored treatment and maximum impact, even when resources are limited. Although there may be systemic barriers, implementing genomic medicine is essential to improve breast cancer outcomes and survival, especially in underserved populations.
Building research capacity for sickle cell disease in Africa ~ Lessons and challenges from establishing a birth cohort in Tanzania	Nkya [27]	Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania	Tanzania	2022	quantitative prospective	SCD	Neonatal diagnosis and follow up	The establishment of SCD birth cohorts is a promising approach for early disease and intervention management. However, there are very few birth cohorts in Africa. In this research, we established a birth cohort of 341 babies with and without SCD and followed them for three years. Clinical and demographic information was collected during enrollment and follow-up visits that were synchronized with the immunization schedule. Through this study, we gained valuable insights into establishing and maintaining a research birth cohort in an African context. We learned the importance of integrating the cohort with the other existing programs to ensure its sustainability.
Ethical principles, challenges and opportunities when conducting genetic counselling for schizophrenia	Zingela [28]	Executive Dean’s Office, Nelson Mandela University, Port Elizabeth, South Africa	South Africa	2023	review	Schizoprenia	Genetic counselling	GC for schizophrenia presents ethical challenges that require attention. Clinicians and researchers must communicate complex scientific information in a way that patients and their families can easily understand. To achieve this, they should draw on lessons from South African studies and apply ethical principles such as beneficence, autonomy, informed consent, confidentiality, and distributive justice. The paper also emphasizes the importance of addressing multicultural and multilingual populations and establishing community advisory boards to handle ethical challenges. All parties involved should strive to share scientific information accurately, guided by empathy. Capacity and expertise in genetic counselling must be built through funding and resources.
Feasibility of cancer genetic counselling and screening in Cameroon ~ perceived benefits and barriers	Berthe Sabine Esson Mapoko [29]	FMBS university of yaounde 1	Cameroon	2023	quantitative	cancer	Genetic counselling and testing	This study at Yaoundé General Hospital, Cameroon, aimed to assess the acceptance, perceived benefits, barriers, and willingness to pay for genetic cancer screening among cancer patients in Cameroon. The study included cancer patients, of which 97.5% expressed their willingness to test for genetic mutations and were willing to pay for genetic testing. However, the study revealed barriers such as the cost, lack of equipment, and anticipated anxiety. The findings suggest that establishing a cancer risk assessment clinic for cancer in Cameroon could be helpful and guide the development of cancer screening programs.
Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa)	edmond wonkam [30]	University of cape town	Cameroon	2021	qualitative study	hearing impaired	Genetic counselling	This study was conducted to identify challenges faced by people with hearing impairment in Cameroon and to suggest ways to improve their quality of life. Ten healthcare workers, educationists, and ten individuals with hearing impairment, including caregivers, were interviewed. The study revealed that people associate hearing impairment with genetics, environmental factors, and spiritual curses. It also found that individuals with hearing impairment have difficulties accessing education and healthcare. To address these issues, the government and health researchers should develop strategies for prevention and early diagnosis of hearing impairment, including awareness campaigns, facilities for proper management, newborn screening, and premarital screening to reduce the burden of genetic hearing impairment.
Opportunities and barriers for genetic service delivery in Kenya from a health personnel perspective	Adrina Zhong [31]	Department of Social and Behavioural Health Sciences, Dalla Lana School of Public Health, The University of Toronto, Toronto, ON, Canada	Kenya	2021	qualitative study	genetic counselling	Genetic counselling and testing	Like many developing countries, Kenya needs more licenced genetic counsellors and has limited access to genetic testing. This study identified opportunities and barriers to genetic service delivery in the Kenyan healthcare system by interviewing personnel who offer genetic services. The findings showed that education, training, costs, and counselling challenges were the main barriers, while demand, education, training, a multidisciplinary approach, and improved laboratory infrastructure were identified as opportunities.