Browsing by Author "Wessels, Tinamarie"

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    Knowledge, attitudes and practises toward premarital genetic testing for rare genetic disorders among Omani families at Sultan Qaboos University Hospital
    (2025) Al, Fori Amel; Wessels, Tinamarie
    In the Sultanate of Oman, the pronounced prevalence of consanguineous unions is associated with an elevated occurrence of rare autosomal recessive disorders. Presently, at the national level, the existing premarital screening (PMS) initiative primarily targets hemoglobinopathies, which are particularly prevalent within the country and not necessarily associated with consanguineous marriages. Conversely, there is an absence of a comprehensive national premarital screening programme to identify individuals at risk of rare genetic disorders. Premarital genetic testing (PMT) is currently provided at the two national genetic centres exclusively for family members deemed to be at risk, a strategy implemented as part of a familial-centred approach following the diagnosis. One of these two centres is the Genetics and Developmental Medicine Clinic (GDMC) at Sultan Qaboos University Hospital (SQUH) which provides this service following every newly diagnosed family for at-risk family members. Aim: To explore the knowledge, attitudes, and practices toward premarital genetic testing targeting familial mutation for rare genetic disorders. Methods: This cross-sectional quantitative study utilised a snowball sampling approach targeting the Omani families who were followed up by the GDMC at SQUH between 2012 and 2020 and had a confirmed diagnosis. The data were collected via an online Google questionnaire from 1118 participants who were officially registered in the records of the GDMC. The participants were invited to participate and were grouped into four categories based on their marital status, the number of offspring, and their children's health status: Group 1 (G1) were single or engaged individuals; Group 2 (G2) consisted of individuals who were married, divorced, or widowed without any children; Group 3 (G3) included individuals who were married, divorced, or widowed with healthy offspring; and finally, Group 4 (G4) were individuals who were married, divorced, or widowed and had at least one child affected by a genetic condition. In total, 659 responses were received, and the data were statistically analysed to describe the knowledge of the participants about premarital testing, their attitudes and practices towards the testing, and the implications of their carrier status results. Results: A total of 659 responses were received, with 342 participants receiving the questionnaire directly from the main researcher and 317 via snowball sampling. Participants were categorized into four groups based on their marital status, number of offspring, and their children's health status. Group 1 (G1), comprising 19% (n=126), consisted of single or engaged individuals. Group 2 (G2), accounting for 8% (n=52), included individuals who were married, divorced, or widowed without children. Group 3 (G3), representing 35% (n=230), included individuals who were married, divorced, or widowed with healthy offspring. Lastly, Group 4 (G4), making up 38% (n=251), comprised individuals who were married, divorced, or widowed and had at least one child affected by a genetic condition. The majority of the studied group (55%; n=362) had completed their undergraduate studies. Among the participants, 79% (n=523) had attended the clinic, while 21% (n=136) had not visited the clinic previously. Ninety per cent of the parents in G4 were unaware of a pre-existing history of a genetic condition within their families before the birth of their affected child. Furthermore, 75% of these parents lacked awareness of the PMT services. Seventy-nine per cent of individuals in G4 shared their genetic diagnosis with family members, and 78% recommended that their relatives consider undergoing PMT. Regarding the various relative groups, 91% of individuals in G1 (single/engaged), 87% of those in G2 (married/divorced/widowed without children), and 79% of G3 (married/divorced/widowed with healthy children) were aware of a genetic diagnosis in their families. Furthermore, 88% of individuals in G1, 80% of G2, and 62% of G3 were informed about the availability of PMT services. There was a consensus across the groups regarding the psychological and psychosocial burden of the genetic condition on the families and the effectiveness of PMT as a preventative option against the recurrence risk of the genetic condition in future generations. The uptake rate of PMT across G1, 2 and 3 was 60% (n=266) with 45% (n=120) identified as carriers for the causative variant and 55% (n=146) were non-carriers. The primary motivations behind opting for genetic testing included a desire to ascertain carrier status, prevent the transmission of the genetic disorder to subsequent generations, and circumvent the inherent complexities and hardships associated with having a child with a rare genetic condition. Conversely, the prevailing reasons for refraining from pursuing PMT included a lack of awareness regarding the genetic diagnosis in the family and the availability of PMT, not having an interest in acquiring knowledge of their carrier status, fear that the test outcome might affect their preferred marital choices and a belief that PMT interferes with God's will. Both carriers and non-carriers expressed strong approval of the ease with which they can share their carrier status results with their families and spouses. Likewise, both carriers and non-carriers highly endorse the simplicity of encouraging their spouses to undergo PMT. Furthermore, both carriers and noncarriers highly approved the impact of their carrier status results on their marriage opportunities. Among carriers in G1, 2, and 3, there was variability in their opinion of how their carrier status results might affect their marriage plans, particularly in terms of potential cancellations due to incompatible genetic outcomes. There was a consensus among the relative groups regarding the impact of the family history of the genetic diagnosis on their marriage opportunities. Moreover, most respondents considered the appropriate timing for PMT before initiating the marriage plan and at the age of 18 years old. Furthermore, 60% (n=400) of participants recommended that at-risk couples who received incompatible genetic results through PMT attend a genetic counselling session before proceeding with their marriage plans, while 27% of participants advised them to cancel their marriage plans. Concerning the mandatory implementation of PMT services, 58% (n=386) of participants supported this suggestion, 27% (n=181) expressed opposition, and 14% (n=29) remained neutral. Conclusion: It is evident that parents of affected children play a crucial role in disseminating information about genetic diagnoses to their relatives and encouraging them to undergo PMT. This is underscored by their high awareness of the genetic condition's existence, its psychological and psychosocial impacts on families, and the widespread acceptance of PMT among related groups. Our participants strongly believe in the efficacy of PMT as a preventive measure against the recurrence of genetic conditions and advocate for its mandatory implementation. This support stems from their personal interest in knowing their carrier status and their desire to prevent disease transmission. The high collective awareness within these families also facilitates the disclosure of carrier status results to family members and spouses, as well as encouraging spouses to undergo PMT. Participants also acknowledge the impact of carrier status results on marriage opportunities, including potential cancellations due to incompatible genetic findings
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    Medical Practitioners' use of genetic counselling services in Cape Town
    (2023) Pretorius, Willem; Wessels, Tinamarie
    The genetic counselling profession has grown exponentially in the last decade. Major advances in genetic technologies contributed to the increased need for these professionals. In South Africa, medical practitioners in private practice are increasingly making use of the services of genetic counsellors in the routine clinical management of their patients. In this research study medical practitioners in private practice in Cape Town, who actively utilise genetic counselling services, were recruited to investigate why they make use of genetic counselling services. A total of twelve medical practitioners were recruited for online semi-structured interviews in Afrikaans or English. The interviews were transcribed, and data was analysed using thematic analysis. From the interviews three broad themes were identified namely: the identity of genetics and genetic counselling services, resource limitations, and the appreciable impact of genetic counselling. Some interesting points of discussion included practitioners' views on direct-to-consumer testing platforms and the ambiguity around the professional title of a genetic counsellor. This research study is, according to our knowledge, one of the first global attempts to interview medical practitioners specifically who actively make use of genetic counselling services. It provides insights that could be used to promote the service throughout South Africa and other countries across the world. Future research that includes the perspectives of medical practitioners throughout South Africa would allow for even greater perspective on utilising genetic counselling services.
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    Opinions and practices of medical specialists concerning medical genetic services at the Pietersburg and Mankweng academic teaching hospitals in the Limpopo Province
    (2023) Scholtz, Kathrine; Wessels, Tinamarie
    Globally, approximately 7.9 million children are born annually with a genetic or partially genetic condition, with an estimated 3.3 million children under the age of five dying because of a serious congenital disorder (World Health Organization & March of Dimes, 2006). Early diagnosis and intervention through screening strategies, either during antenatal care or at birth, and access to proper treatment and health care can save the life of a child with a serious and life-threatening disability. Based on the National Department of Health Human Genetics Policy guidelines (2001), the Limpopo province would require 12 full-time medical geneticists (two per 1 million people), 48 genetic counsellors (four per medical geneticist) and 60 medical scientists (five per medical geneticist). To date, however, no medical geneticist or genetic counsellor posts have been created in the province and the provincial National Health Laboratory Service does not have a genetics diagnostic laboratory. Thus, there are currently no medical genetic services available or outreach programmes within either the public or private healthcare systems in Limpopo. Any patients requiring medical genetic services are referred to out-of-province services in Gauteng. The aim of this study was to canvas the opinions and shed light on the practices of medical specialists at the Pietersburg/Mankweng Hospital Complex in Limpopo with regard to medical genetic services, and whether there is a perceived need for or benefit of locally available medical genetic services. METHODS This study employed a mixed methods approach comprising a survey questionnaire (Phase 1), followed by semi-structured follow-up interviews (Phase 2) based on questions related to the aims and objectives of this study. The survey questionnaire was an online questionnaire consisting of thirty-six questions posed to determine the demographics, education, knowledge, referral patterns and opinions about comprehensive medical genetic services of the participants. The sample population consisted of 56 medical specialists from the departments of Family Medicine; Internal Medicine; Obstetrics and Gynaecology; Paediatrics and Child Health; and Surgery. A total of 32 responses were received. Results for this phase of the study were analysed using descriptive statistics. Semi-structured one-to-one interviews with open-ended questions were used to collect data for Phase 2. A total of 11 medical specialists were interviewed. Participant interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. RESULTS Results from Phase 1 showed that 44% of participants self-reported their genetics knowledge as fair; 41% felt somewhat comfortable discussing genetic information and risks with patients; and 44% felt that they were somewhat confident in their knowledge of available genetic tests and testing options. All participants were of the opinion that genetic counselling and genetic testing services are a necessity in the province, while 97% of the respondents felt that local access to medical geneticists was a necessity. While most medical specialists (88%) reported having treated patients in the past 12 months who would have benefitted from seeing a medical geneticist, only 13% reported referring these patients to a medical geneticist. Similarly, 81% of medical specialists indicated that they had seen patients or families in the past 12 months who would have benefitted from a genetic counselling service, however, only 28% had referred patients to such a service. With regard to genetic testing services, 94% of medical specialists reported seeing patients in the past 12 months who would have benefitted from genetic testing, and 50% of the respondents had sent samples for genetic testing. Results from the semi-structured one-to-one interviews highlighted the current lack of capacity, knowledge and resources available locally in Limpopo, and the challenges faced by patients when utilising out-of-province services in terms of social and financial costs, thus creating barriers to accessing comprehensive medical genetic services. Results also showed a perceived need for and benefit of locally available medical genetic services in the province to be able to provide comprehensive care to patients. CONCLUSIONS While there is a clear benefit and need for comprehensive medical genetic services in Limpopo, a cost-effective and clearly thought-out strategy needs to be established that does not place strain on an already overburdened and under-resourced provincial public healthcare system.
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    The knowledge of basic genetic terms and available terminology in the South African Sotho languages
    (2023) Mpe, Matshela; Wessels, Tinamarie
    The use of indigenous terms during a genetic counselling session has the potential to foster a better understanding between a genetic counsellor and patient. However, it is unknown if there are specific terms for commonly used English genetic terminology in the South African indigenous languages. Furthermore, the genetic terms, knowledge and understanding of basic genetic concepts in the indigenous populations is not well-documented in the South African population. This study aimed to investigate the knowledge and understanding of basic genetic terms in the indigenous South African Sotho-Pedi-Tswana ethnolinguistic group and to explore the available common terms, sayings, and expressions. This study employed a sociolinguistic qualitative descriptive research design to investigate the study aim. Data was collected using interviews through three focus group discussions. The total number of participants was 16 Sesotho language group speakers comprising of 3 males and 13 females from a mixture of both rural and suburban areas. All participants were enrolled as students at University of Cape Town in non-health science and non-science faculties. Content analysis was used to extract the available terms and phrases used to describe genetics and inheritance concepts. Thematic content analysis was used to analyse the data from the verbatim transcripts according to three main categories: (1) terms and concepts, (2) understanding of genetic terms and (3) terminology usage. The findings reveal that there are terms and expressions available for commonly used genetic concepts and conditions commonly seen in genetic counselling. These include terminology for genetic conditions such as albinism and concepts such as inheritance and consanguinity. Participants highlighted how and when specific terms are used in their home languages and which terms were found to be offensive. Contrary to English, the Sotho-Pedi-Tswana language, like other indigenous South African languages, use more descriptive language to describe concepts. In conclusion, this study has shown that there are genetic terms or phrases that are used for common English genetic terminology in the Sotho language group. Furthermore, there is a basic understanding of genetics within their communities which genetic counsellors can use as a basis when counselling. Common genetic terminology in South African indigenous languages can be included in genetic counselling sessions to reduce communication barriers, increase rapport and minimize the need for a translator while maintaining multicultural sensitivity.