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Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape
Congenital disorders are defined as abnormalities of either a structural or functional nature. These abnormalities are present at birth; however, they may sometimes only be observed later in life. The underlying cause of congenital disorders can be attributed to genetics or, environmental effects or...
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| Format: | Thesis |
| Language: | English English |
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Department of Pathology
2025
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| _version_ | 1867613407494012929 |
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| access_status_str | Open Access |
| author | Ntanjana, Sesethu |
| author2 | Wessels, Tina-Marié |
| author_browse | Ntanjana, Sesethu Wessels, Tina-Marié |
| author_facet | Wessels, Tina-Marié Ntanjana, Sesethu |
| author_sort | Ntanjana, Sesethu |
| collection | Thesis |
| description | Congenital disorders are defined as abnormalities of either a structural or functional nature. These abnormalities are present at birth; however, they may sometimes only be observed later in life. The underlying cause of congenital disorders can be attributed to genetics or, environmental effects or both, as well as unknown factors in some instances. These disorders are known to affect approximately 1 in 15 live births, yet, in South Africa they are underreported. The underrepresentation is partly due to the lack of skills and resources to successfully diagnose patients, therefore, contributing to the neonatal and infant mortality rate. When congenital disorders are not considered and correctly diagnosed, the implications for management and for recurrence risk in the family remains unclear. The burden of these disorders in low middle-income countries (LMIC) is underappreciated. Referral to genetic services aids in diagnosis, management, and the interpretation of the family history to ascertain the implications and recurrence risk of a disease. The aim of this study, therefore, is to explore the experiences and perceptions of health care professionals concerning the utility of genetic services for congenital disorders in rural Eastern Cape through a descriptive phenomenology approach. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study included healthcare professionals who were involved in the management of patients affected by congenital disorders. A research advertisement was disseminated with the assistance and permission from the hospital's management. Semi-structured face-to-face interviews with open-ended questions were used to collect the data and close-ended questions were used to obtain the demographic data. The interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. A total of 10 healthcare professionals were interviewed. Results: Four themes were identified in this study. These include “Challenges in rural healthcare”, “Service provision”, “Genetic counselling” and “Genetic awareness and education”. These themes often overlapped and could be described in three overarching ideas, namely logistic factors, human factors, and guidelines which illustrated the determinants of the approach to congenital disorders in rural areas. Discussion and Conclusion: The study highlighted the challenges that exist for patients outside urban areas such as the lack of access to healthcare facilities and genetic information. It highlights the lack of training and guidelines on congenital disorders as a hindrance to achieving optimal patient satisfaction. Empowering healthcare providers outside of tertiary hospitals is instrumental in improving health outcomes. The research participants stressed the importance of genetic awareness among healthcare professionals, as they need to be able to empower patients by sensitising them to the causes of congenital disorders, their genetic risks, and options. Finally, the results showed that the participants had a superficial understanding of genetic counselling, thus indicating the need for raising awareness about this profession among healthcare professionals. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/41212 |
| institution | University of Cape Town (South Africa) |
| language | English eng |
| last_indexed | 2026-06-10T12:35:39.703Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | Department of Pathology |
| publisherStr | Department of Pathology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/41212 Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape Ntanjana, Sesethu Wessels, Tina-Marié Fieggen, Karen human genetics Congenital disorders are defined as abnormalities of either a structural or functional nature. These abnormalities are present at birth; however, they may sometimes only be observed later in life. The underlying cause of congenital disorders can be attributed to genetics or, environmental effects or both, as well as unknown factors in some instances. These disorders are known to affect approximately 1 in 15 live births, yet, in South Africa they are underreported. The underrepresentation is partly due to the lack of skills and resources to successfully diagnose patients, therefore, contributing to the neonatal and infant mortality rate. When congenital disorders are not considered and correctly diagnosed, the implications for management and for recurrence risk in the family remains unclear. The burden of these disorders in low middle-income countries (LMIC) is underappreciated. Referral to genetic services aids in diagnosis, management, and the interpretation of the family history to ascertain the implications and recurrence risk of a disease. The aim of this study, therefore, is to explore the experiences and perceptions of health care professionals concerning the utility of genetic services for congenital disorders in rural Eastern Cape through a descriptive phenomenology approach. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study included healthcare professionals who were involved in the management of patients affected by congenital disorders. A research advertisement was disseminated with the assistance and permission from the hospital's management. Semi-structured face-to-face interviews with open-ended questions were used to collect the data and close-ended questions were used to obtain the demographic data. The interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. A total of 10 healthcare professionals were interviewed. Results: Four themes were identified in this study. These include “Challenges in rural healthcare”, “Service provision”, “Genetic counselling” and “Genetic awareness and education”. These themes often overlapped and could be described in three overarching ideas, namely logistic factors, human factors, and guidelines which illustrated the determinants of the approach to congenital disorders in rural areas. Discussion and Conclusion: The study highlighted the challenges that exist for patients outside urban areas such as the lack of access to healthcare facilities and genetic information. It highlights the lack of training and guidelines on congenital disorders as a hindrance to achieving optimal patient satisfaction. Empowering healthcare providers outside of tertiary hospitals is instrumental in improving health outcomes. The research participants stressed the importance of genetic awareness among healthcare professionals, as they need to be able to empower patients by sensitising them to the causes of congenital disorders, their genetic risks, and options. Finally, the results showed that the participants had a superficial understanding of genetic counselling, thus indicating the need for raising awareness about this profession among healthcare professionals. 2025-03-19T11:45:40Z 2025-03-19T11:45:40Z 2024 2025-03-19T11:37:08Z Thesis / Dissertation Masters MMedSc http://hdl.handle.net/11427/41212 en eng application/pdf Department of Pathology Faculty of Health Sciences University of Cape Town |
| spellingShingle | human genetics Ntanjana, Sesethu Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape |
| thesis_degree_str | Master's |
| title | Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape |
| title_full | Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape |
| title_fullStr | Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape |
| title_full_unstemmed | Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape |
| title_short | Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape |
| title_sort | approach to congenital disorders referral pathways for genetic services in the eastern cape |
| topic | human genetics |
| url | http://hdl.handle.net/11427/41212 |
| work_keys_str_mv | AT ntanjanasesethu approachtocongenitaldisordersreferralpathwaysforgeneticservicesintheeasterncape |