Browsing by Author "Wessels, Tina-Marié"

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    Approach to congenital disorders: referral pathways for genetic services in the Eastern Cape
    (2024) Ntanjana, Sesethu; Wessels, Tina-Marié; Fieggen, Karen
    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.
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    The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman
    (2016) Al-Kharusi, Khalsa; Wessels, Tina-Marié; Bruwer, Zandré
    Preimplantation genetic diagnosis (PGD) is an alternative reproductive technology integrated with in-vitro fertilisation (IVF). It is a well-established technique offering reproductive options for families at a high risk of transmitting a genetic disorder, allowing them to avoid a termination of pregnancy (TOP). Consanguineous unions are common and encouraged in many Arab communities. This can lead to an increased risk of one or more autosomal recessive disorders that may occur within the family. Traditional prenatal testing involves testing fetal cells with the option of TOP of an affected fetus. In Arab communities where TOP is restricted under Muslim law, such testing is not acceptable. For these couples and their family members, PGD is a feasible option as the fetus is diagnosed before implantation and allows for only healthy embryos to be implanted. However, undergoing PGD is relatively new in the Arabic Muslim countries and Omani patients have only recently had access to the service. This study utilised a phenomenological approach to explore the experience of Omani families who had selected to undergo PGD as a means of reducing the risk of having a child affected with a genetic disorder. Fourteen participants from eight families who underwent PGD were interviewed. Data collected were analysed using thematic analysis. The research identified five main themes; Desire for a Healthy Child; Anxiety "Taraqub"; Unforeseen; Secrecy; Me and My Partner. The PGD experience was reported as physically and emotionally distressing. Some participants felt attached to their embryos regardless of health status, while the majority did not anticipate the loss of intimacy, autonomy and control they experienced, particularly related to the insemination process. The social and religious background of participants played a significant role in the participant's perception of PGD, which has both practical and psychosocial implications. The findings of the research have provided insight into the PGD experiences of Omani families and can be used to improve the services that are currently available to these families.
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    Exploration of the impact of genetic counselling and patient support group involvement on retinal degenerative disorders (RDD) patients: a qualitative study
    (2018) Goliath, Rene; Wessels, Tina-Marié; Greenberg, Jacquie
    This study explored the experiences of individuals within the clinical genetic service in South Africa, with inherited retinal disease. Methods: This qualitative research was based on a grounded theory approach. Semi-structured interviews were carried out after obtaining approval from the University of Cape Town Research and Ethics committees as well as from study participants themselves. Ten willing individuals were interviewed using an open-ended question guide to extract information about their experiences with vision loss including but not exclusively, concerning participants knowledge about their condition, ability to make decisions and their adaptation experiences. Interviews were audio recorded, transcribed verbatim and a reiterative thematic analysis performed on the raw data. Results: A range of themes and sub-themes emerged from the data that marked participants' experiences from the time of onset of vision loss. The main broad themes include "a roller coaster journey," "learning how to survive," "a genetic condition affecting the back of the eye, and "paving the way forward." Conclusions: The four themes presented in an almost linear fashion, marking a journey patients experienced from the onset of symptoms to the time of the interview. The initial stage of their journey was marked by difficulties and challenges exacerbated by the psychopathological responses reported in this dissertation. This stage was perceived to be prolonged and often extended into adulthood. The messages from the data support a view that the diverse and extended nature of this initial period was due to the limited support this group of participants received from the low vision specialists they consulted with. A significant impression of frustration and disillusionment was experienced by participants on not receiving information and guidance from these health care providers. Various mechanisms of support and control positively influenced patients' learning how to cope and survive their journey with visual impairment. Coping, learning what their condition is, what the causes are and the risks involved for future generations, empowered the participants in this study to obtain a view of a future for themselves and to make relevant decisions and choices necessary to realise the way ahead. Taken together though, continued education was deemed worthwhile.
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    Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality
    (2018) Malope, Malebo Felicia; Wessels, Tina-Marié; Fieggen, Karen; Stewart, Chantal
    Background: A weekly pregnancy counselling clinic is held in conjunction with foetal medicine experts at Groote Schuur Hospital for women with pregnancies complicated by foetal anomalies. In cases with poor prognoses, termination of pregnancy (TOP) may be offered. The women receive genetic counselling where the ultrasound findings, invasive testing and TOP options are discussed. Decision-making is the focus of these sessions. The experiences and decision-making processes of the women in this clinic are poorly understood, therefore this project aims to explore these women's experiences and what factors influence their decision-making regarding TOP. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study are women who had a prenatal diagnosis of a serious congenital abnormality and were offered TOP. The women were identified using the Division of Human Genetics pregnancy counselling database at the University of Cape Town in South Africa. Semistructured 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 12 women were interviewed. Results: Five themes were identified in this study. These include "Health care services", "Home", "Being a woman", "Finding meaning", and "The aftermath". The healthcare services impacted the manner in which the women made sense of the ultrasound findings. Support (or lack of) from family and the community impacted on their decision-making. Stigma attached to having a child with a disability and/or stigma against TOP and partner relationships played a role. The women questioned their role as a woman and obligations of child-bearing. Finding meaning for the event was important and this process continued until after the delivery or after the child was born. Following the event having a burial and giving away the child's clothes were found to play a significant role in their adjustment. Discussion and Conclusion: The decision-making process was multifaceted and unique to each woman. They consulted their families, partners and community but in the end they made the final decision. The women considered a multitude of factors but it seems that there may be one deciding factor. This in depth exploration of the women's experiences has provided valuable insight into the decision-making process, which can be used to improve the services offered to patients.
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    Investigating the opinions on telephonic advanced maternal age genetic counselling
    (2024) Bayley, Samantha; Laing, Nakita; Malope, Malebo; Wessels, Tina-Marié
    Background: The research on telephonic genetic counselling (GC) services has increased since 2020. However, there is still limited research on the experience and opinions of this service from the patients' perspective. This is particularly true in low to middle-income settings such as South Africa. The advanced maternal age (AMA) telephonic GC service at Groote Schuur Hospital (GSH), has been implemented since COVID-19 regulations were enforced in 2020. This study aims to investigate the opinions and experiences of the patients on this telephonic service. Methods: This qualitative study used individual semi-structured interviews, both in-person and telephonic, and followed a phenomenological approach. The data were analysed using thematic data analysis. Results: The participants (n=9) had varying opinions about the telephonic GC service offered through GSH. The information gathering process varied for the participants; especially the differing Midwife Obstetric Units (MOUs) referrals and the information given. Some participants found online resources helpful, but not all participants felt the same. Overall, the participants felt the information given by the GC service was informative and useful. An important outcome of the research was a general trust between the GC trainee and participants but a distrust between other health care professionals and the participants. Numerous factors influenced decision-making concerning invasive testing including participants' fears and seeking control or having a sense of control based on if you would cope with having a child with DS. Conclusion: The distrust in the healthcare system can have a significant impact on patients' understanding and decision-making in a GC session. Overall, there are benefits and barriers to be aware of, but most participants found the GC session informative and allowed them to make informed decisions. This research included a limited sample size, which prevents the generalizability of these findings.
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    Perspectives and Experiences of Individuals Undergoing Predictive Testing for Hereditary Breast and Ovarian Cancer (HBOC) Syndrome in the Western Cape, South Africa.
    (2018) Araujo, Monica Rodrigues; Laing, Nakita; Wessels, Tina-Marié; Schoeman, Mardelle
    Breast cancer is the most common malignancy affecting females globally. Hereditary breast and ovarian cancer (HBOC) syndrome is caused by pathogenic variants in BRCA1 and BRCA2 and is seen in approximately 50% of families with a strong history of breast and ovarian cancers. Predictive testing (PT) is offered to unaffected individuals with a positive family history of HBOC, with an already identified BRCA1 or BRCA2 mutation in an affected family member. There is an overwhelming amount of research that has focused on the after-effects of diagnostic genetic testing for HBOC but there has been little investigation into how individuals experience the actual PT process. The present study therefore aimed to investigate individuals’ decisions for undergoing and their experiences of PT for HBOC in a local context, by focusing on at-risk South African individuals residing in the Western Cape Province. Sixteen participants were recruited retrospectively from the breast cancer and/or clinical genetics clinics at Groote Schuur Hospital, Tygerberg Hospital and private genetic counselling practices in Cape Town. Semi structured interviews were conducted, and the interview transcripts were analysed using the framework approach for qualitative data analysis. Using this approach, five themes were identified relating to the perspectives and experiences of individuals undergoing PT for HBOC, in selected settings in the Western Cape. While some participants felt that their decision to pursue PT was influenced by their family history of cancer and the associated cancer-related distress, others felt that their decision was made out of a sense of duty to their families or in solidarity with those that were affected or received a positive test result. Overall, the participants felt that the pre-test counselling was beneficial in allowing for an improved understanding of HBOC, however not all participants felt that the pre-test counselling prepared them for receiving their results. Receiving a negative test result was often accompanied by feelings of guilt and did not exempt participants from the fear of developing cancer. Some of the concerns raised by participants that received a positive test result were centred around prophylactic intervention and its effect on body image. Overall, participants felt empowered by their mutation status and felt that they were better able to manage their risk. The need for additional support, both practical and emotional support, was particularly evident amongst mutation-carriers. The findings of this study provide valuable insight into the perspectives and experiences of this population, which could potentially impact the services that are provided to individuals undergoing PT for HBOC in similar settings.
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    The role of a genetic counsellor in a support group for Huntington disease
    (2019) du Toit, Maxine; Wessels, Tina-Marié; Greenberg, Jacquie
    Genetic counselling students are encouraged to become involved with support groups for genetic conditions. However, their roles within these groups are not well defined and poorly understood and ethical concerns have been raised regarding the appropriateness of such involvement. A limited number of international studies have examined the role of a genetic counsellor in a support group. These studies report broadly on the matter but lack the personal response that qualitative data produces. South African literature is even more limited and no studies (both locally and internationally) have attempted to describe the role of a genetic counsellor in a support group for Huntington disease. This study examines the role of a genetic counsellor in a Huntington Disease support group, specifically the Huntington’s Association of South Africa (HASA). A qualitative research approach was used to interview 17 people who have been involved with HASA in the past seven years. In-person and telephonic interviews were conducted with five genetic counsellors and one psychologist. Two separate focus groups were conducted with a total of 11 support group members and one genetic counsellor (who was also interviewed in-person). The interviews and focus groups were audio recorded and transcribed by a combination of an online software program named Sonix Transcription and manual transcription by the researcher herself. Thematic analysis was done and the results were grouped according to the following five themes that emerged from the data: 1) Is there a role?, 2) Information provider, 3) Emotional support, 4) Practical helper, and 5) Community member. It was found that there is a role for a genetic counsellor in a HASA support group and that the relationship that is formed though such involvement can be mutually beneficial to both the support group members and the genetic counsellor. The genetic counsellor’s role was found to be wide and included specialist and practical roles, as indicated by above mentioned themes two to five. These findings cannot be extrapolated to apply to all support groups due to the unique characteristics and function of different support groups. This was evident in this case as the two branches in SA (Western Cape and Gauteng) seem to function very differently. The research can, however, be used as guideline for involvement with other support groups. This 9 study’s findings made a unique contribution in that it documented in detail the genetic counsellor’s involvement in support groups. The study found that all the participants agreed that HASA should have access to a genetic counsellor, thus it is recommended that future studies should explore the role of a genetic counsellor in support groups for other genetic conditions, as those groups could also find it beneficial.