Browsing by Author "Wessels, Tina-Marie"

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    Open Access
    At-risk individual's perspectives of Spinocerebellar Ataxia (SCA) Presymptomatic Testing (PT)
    (2021) Lloyd, Deanah; Wessels, Tina-Marie; Greenberg, Jacquie
    Since the introduction of presymptomatic testing for Spinocerebellar Ataxia in South Africa, no research has looked at the impact, perceptions or acceptance of such testing within this diverse population. Despite the relatively high frequencies of late onset autosomal dominant conditions in South Africa, the uptake of presymptomatic testing by those at-risk of inheriting these conditions has been lower than that seen internationally. This research project sought to understand these low levels of utilisation, by exploring the perceptions of those at-risk of inheriting Spinocerebellar Ataxia towards presymptomatic testing. In depth semi-structured interviews were conducted with six individuals at-risk of inheriting Spinocerebellar Ataxia. The interviews were transcribed verbatim and thematically analysed. The four themes that emerged from the data included: 1) Caregiving, 2) Relationships, 3) Being At-Risk and 4) Presymptomatic Testing (PT) Perceptions. These themes explore the significant and long-lasting burdens faced both physically and emotionally by the affected individual as well as their relatives. With no currently available way of preventing or curing the condition, those atrisk described being left with a sense of hopelessness and anxiety about their future. The at-risk individuals' perceptions and fears were often linked to their and their family's experiences of the condition. Additionally, their perceptions of presymptomatic testing, although positive, did not correlate with testing utilisation amongst the participants. As such, the current underutilisation of presymptomatic testing in South Africa was found to be due to the at-risk individuals' fears of the result and its' perceived consequences, rather than a negative perception of presymptomatic testing. This is significant as it indicates that the current lack of uptake of presymptomatic testing is due to external factors unrelated to the test itself. As such, genetic counsellors should focus their efforts on counselling the individual through their fears as opposed to primarily offering presymptomatic testing. Although these findings contribute to our understanding of this previous understudied population, they cannot be extrapolated to apply to the entire South African at-risk population due to the small sample size of the study. This knowledge however, may assist in improving the presymptomatic testing process by providing greater insight into the population's experiences and perspectives. Thus, it is recommended that future studies explore ways that genetic counselling sessions and the presymptomatic testing process could be altered to incorporate this knowledge.
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    Beliefs on Heredity in Welkom, Free State
    (2018) Davies, Chante; Fieggen, K; Wessels, Tina-Marie
    South Africa is a diverse country in language, culture, and beliefs. The beliefs on heredity vary widely and may in part relate to an incomplete understanding of the concept of heredity. Congenital disorders, many of which are genetic in origin, are one of the major contributors to neonatal deaths in South Africa. Which is one of the reasons why it is important to document what the beliefs of heredity are in different environments. Being sensitive towards beliefs can improve communication in healthcare service delivery. An understanding of what genetics means to members of the public should also be documented. Objectives 1. To explore the understanding of genetics in the study community. 2. To investigate the beliefs about heredity. 3. To explore the role culture plays in the understanding of heredity. Methodology The study took place in Welkom, in the Matjhabeng municipality area in the Free State, where genetic counselling services are not available and currently no educational intervention on heredity has been done. The study population was foster parents from two of the prominent geographical areas in the area, namely Thabong and Welkom central. Foster parents were sampled as a convenient sample within the study communities and they are already in established groups and were therefore expected to be more open to discussion in a focus group than a group that had been randomly selected. The study is an exploratory cohort study. The main instrument of data collection was focus group discussions (FGD). Between four and eight people made up each focus group and there was a total of five FGDs with 28 participants. The participants were grouped according to to their preferred language. The FGDs were audio recorded, the audio files were then translated and transcribed to allow for thematic analysis. The transcripts were analysed using a coding system and themes were established. Results The beliefs surrounding heredity were categorized into five main themes; namely lifestyle, behaviour, familial, curses and prevention and management. Heredity is believed to be influenced by choice of lifestyle which can be passed on to a future generation. Behaviour is believed to be a heritable trait that can be traced back through many generations. Heredity is thus used as a tool to try to explain or understand a person’s behaviour. Behavioural traits are also believed by some participants to represent “clan inheritance”. Heredity is also seen by participants within families through familial resemblance. Genetic disorders are believed by some to be caused by curses based on cultural beliefs, however, participants also believed that these curses can be broken using prayer and rituals and thus prevented from being transferred to the next generation. Antenatal care was also considered being important in preventing genetic disorders. Conclusion In conclusion, cultural influences and beliefs play a role in how people understand genetics and heredity. Understanding these influences and beliefs will not only provide insight into the public’s views on genetics but can also be used in implementing educational programs that can educate and inform the public about genetics.
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    Exploring the Experiences and Perceptions of Individuals who have Completed the Discovery Health Family History Tool, and how the Personalised Report has Impacted their Lives
    (2020) Barlow, Robyn Amy; Wessels, Tina-Marie; Urban, Michael; Kantor, Gareth
    Since the completion of the Human Genome Project in 2003, the focus of genomic medicine has expanded to include the more common chronic diseases which are now understood to be multifactorial in origin. These diseases show strong familial clustering, as family members share both genetic and non-genetic risk factors, and therefore a positive family history is considered a risk factor for these diseases. Although a 3-generation pedigree is considered the gold standard for the collection of family health history (FHH) information and the stratification of disease risk, it is underutilised in health care due to various practitioner and patient barriers. Electronic patient-facing tools have been designed to interrogate FHH, with the capability of stratifying disease risks and making management and intervention recommendations, as an effective way of overcoming some of these barriers. Through the identification of at-risk individuals and targeted interventions, the hope is individuals will be more compliant and these programmes will be more effective than standardised health messages. Discovery Health introduced a FHH tool in April 2017, called MyFamilyHistory, to promote disease prevention and future wellness in its members. The tool estimates and reports on an individual's FHH-related lifetime risk for seven chronic diseases and makes recommendations to manage those risks. There is some evidence that FHH tools and personalised risk stratifications do result in screening uptake but only a few studies have looked at the effectiveness of FHH tools at achieving behaviour change and promoting a healthy lifestyle. Additionally, there are limited studies that have looked at the perceptions of the patients who have completed these FHH tools. This study therefore aimed to explore the experiences and perceptions of individuals who have completed Discovery Health's MyFamilyHistory tool, and how the personalised report has impacted their lives. This qualitative study drew on the principles of phenomenology and twelve participants were recruited through purposive sampling. They were recruited from the pool of individuals who had completed the MyFamilyHistory tool in 2019 and were recruited once they had contacted the researcher in response to a participation invitation sent out by Discovery Health. The data was collected through semi-structured, video interviews and thematic analysis was used to analyse the data. Five themes were identified from the data, namely: 1) Patient-Facing Tool, 2) Health Awareness, 3) Trust, 4) Hope for the Future, and 5) Achieving Change. It was found that the MyFamilyHistory tool is user-friendly and relatively easy-to-use and that the risks and recommendations were presented in a way that was easy to understand. The tool provided an improved health awareness and drew attention to risk factors including FHH. Benefits highlighted included it being a tool that promoted both health education and health communication, however the biggest challenge experienced was the lack of post-completion support and follow-up. Behaviour change was linked to the individuals perceived risk, rather than the risk generated by the tool, which is affected by various personal and environmental factors and furthermore was greatly influenced by the individual's health literacy level. Therefore, varying degrees of behaviour change were noted. This study highlights the important role that FHH tools have in health awareness and education as well as the importance of health literacy in achieving a healthier population. It also provides support for the role of health literacy in risk perception and how a less than optimum health literacy not only limits health awareness but also prevents proactive measures from being taken and impedes the health decision-making process. The findings of this study are likely to inform the implementation of personalised, preventative medicine and its role as an alternative and/or a complementary method to achieving health behaviour change. Additionally, the results can be used by Discovery Health, not only to improve their own tool but also to improve the service they offer to their members and the effectiveness thereof.
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    The factors affecting the inherited retinal disease project in South Africa - Including insights from Genetic Counsellors
    (2023) Benefeld, Gameda; Wessels, Tina-Marie; ramesar rajkumar
    The Inherited Retinal Disease (IRD) Biorepository based in the Division of Human Genetics at the University of Cape Town, has conducted research into the molecular basis of IRD since 1990. Historically, and as part of this programme, patients with IRD are recruited and research into the genetic cause of the patient's disease is initiated, with the ultimate objective of identifying the genetic basis of the disease. An important aspect of the project was to feedback results, especially if it had clinical relevance. The aim of the present research project is to identify factors affecting the result delivery process, with a focus on the non-delivery of results. Method A mixed methodology was used to explore the possible factors which affected non-delivery of results. Quantitative data was collected from the IRD biorepository, and the demographics and other characteristics of patients were explored to gain insight into whether any of these features/characteristics had an impact on result delivery. In addition, a qualitative approach was taken to gain insight into the opinions and experiences of genetic counsellors regarding the delivery of results. The data from this combined mixed methods project provided a reasonably comprehensive view of the result delivery process. Results In the quantitative aspect of the project, analysis of the database reveals that the IRD project had recruited 3413 individuals from 1553 families in the study period analysed (1985-2019). Of these, disease-causing mutations have been identified in 1171 individuals (inferring that they were eligible to receive this information as a ‘result'). Of these individuals, there was evidence that 416 had received their results. Deductively, 755 individuals from 191 families had not received their results. Upon closer inspection of the dataset (including the electronic database and physical subject files/records), there was evidence that an additional 76 subjects had received their results, 46 were deceased and 5 entries were duplicated. This reduced those eligible for results to 628 individuals (referred as the primary cohort). This primary cohort of interest could be divided into 131 subjects where there was a categoric statement on the database indicating that the result was not yet delivered, referred to as a high confidence cohort, and 497 subjects where there was no definitive indication on the database that results were given or not, but for whom one presumed result were not delivered. This group is referred to as the low confidence cohort. In this study, an analysis of the primary cohort (n=628), high confidence cohort (n=131) and low confidence cohort (n=497) was carried out. This was done to ascertain whether iii Abstract any trends and characteristics might emerge from the primary cohort which were a logical extrapolation of the respective cohorts. It was found that patients from large families, mostly recruited during the earlier part of the research drive of 1995 to 2004, were more likely not to have received results. Minors were of particular importance in the database as they represented 20.4% (n=128) of the primary cohort and their results ought to have been expedited. More effort was also made to deliver results to affected individuals as the high confidence cohort had more interaction with affected individuals than unaffected, but other characteristics like sex and age did not affect result delivery. From the qualitative data, it was found that the current process of notifying patients/subjects (directly that a result was available), as opposed to through health professionals, had an impact on the result delivery. This is perceived to be the case since the result delivery hinged on personal initiative and the perceived value of the result by the patient. Genetic counsellors also thought that lower socioeconomic background may have contributed to a reduced delivery of results. Conclusion Result delivery in the IRD project was found to be affected by a number of factors, some of which researchers have control over and some that are beyond their control. The qualitative data corroborated some of the findings from the quantitative results. The results from the genetic counsellors' opinions provided additional insights which may play a role in non-delivery of results, some of which are patient related factors. The study therefore provided insights and proposed strategies that can be used to improve the result delivery process.
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    Investigating the views and expectations of pregnant women who undergo genetic counselling for age-related risk of aneuploidy
    (2020) Vorster, Nina; Wessels, Tina-Marie; Fieggen, Karen; Laing, Nakita
    Background: Pregnancy at advanced maternal age (AMA) is associated with an increased risk of aneuploidy. In the Western Cape's public health sector maternal age alone is widely used to screen women for high risk of pregnancies affected by aneuploidy. The weekly pregnancy counselling clinic (PCC) at Groote Schuur Hospital (GSH) offers genetic counselling (GC) for women who are of AMA to inform them about their age-related aneuploidy risk, offer invasive diagnostic testing (IDT) and discuss the option of voluntary termination of an affected pregnancy. A recent audit at GSH showed that the uptake of IDT was low and other literature reports that South Africans tend to have a conservative view regarding termination of pregnancy (TOP). This study sought to understand what women expect from the GC service at PCC as well as what their experiences are of the service. Methods: This qualitative phenomenological study used a pragmatic approach and participants were recruited through purposive sampling. Semi-structured, in-person interviews were conducted after women had completed their GC sessions at PCC. Thematic analysis was used to analyse the data. Results: The results of this study suggest that participants (n=7) received very little information about their GC appointments at referring clinics, and that they generally did not have prior knowledge about age-related aneuploidy risks. Finding out about the age-related risk of aneuploidy was an emotional experience for the participants, but other factors, including normal ultrasound results, provided relief. The participants' choices regarding IDT and attitudes towards TOP reflected that of available literature as the uptake was low and most participants reported that they would not consider a TOP. The women reported that they would use the knowledge they gained during GC to educate other women in their communities about the pregnancy risks associated with increased maternal age. Generally, the participants believed that GC was useful and appreciated the opportunity. Conclusion: The participants in this study had limited health literacy and knowledge regarding AMA risks and GC. As a result, participants had no expectations of GC. However, the participants felt that GC was useful in helping them prepare for the possibility of a child with DS, and generally viewed the service in a positive light. Additionally, this study's results suggests that there is a need to educate women in local communities regarding AMA pregnancy risks.
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    Parental perceptions of the educational needs of children with genetic conditions leading to intellectual disabilities
    (2022) Cameron-Mackintosh, Sinead; Wessels, Tina-Marie; Popel, Kalinka
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