Sickle cell disease (SCD) is a chronic, heritable blood disorder with affected individuals suffering from debilitating health issues and requiring frequent hospitalisation. SCD is highly prevalent in areas of the world where malaria is endemic and specifically in Sub-Saharan African (SSA) region from where a number of migrants flee to South Africa. This has resulted in increased numbers of SCD patients in the South African healthcare system requiring holistic treatment and care, and ultimately improvement of their health-related quality of life (HRQL). There is limited empirical information on issues related to HRQL in SCD in Africa, with none available on adults living with SCD in South Africa. For this reason, this study was carried out with the aim of qualitatively exploring the perceptions of HRQL in adult SCD patients at Groote Schuur Hospital in Cape Town. Participants were selected from Groote Schuur Hospital, a tertiary referral hospital in Cape Town, South Africa using a purposive sampling method. Participants were asked about how their condition affected physical and psychological functioning, effects of their health on relationships and social issues such as education and employment opportunities as well as discrimination. Perceptions of access to and satisfaction with healthcare, coping strategies and independent living skills were also explored. The data collected for this study were analysed using the framework approach and thematic content analyses methods. Results suggest that participants believed their functioning was affected by the constant and unpredictable nature of SCD clinical events, and this was seen to have social, financial and psychological implications. Environmental factors such as weather, activity and psychological state had significant impact on participants' health, with pain being a common complication of the condition often making coping with the condition difficult. Participants also experienced health-related discrimination and stigma in personal and social relationships and within the workplace often with negative emotional consequences. Both the positive and negative experiences with healthcare were also described. Participants found ways to cope with their condition but it appeared that SCD had more of a negative overall impact on various domains of HRQL for participants. Insights in to the impact of SCD on adult patients is important to allow for healthcare professionals to better understand patient needs and to implement more effective coping and self-management strategies appropriate for their patients. It also allows for genetic counselling services to be better tailored to addressing the concerns and needs of patients to provide better educational and psychosocial support.

The present study explored the interactional dynamics of intercultural Genetic Counselling sessions in clinics in Johannesburg. Genetic Counselling is a relatively young profession and although extensive research is available on the process there is a paucity of literature on what occurs in the interactions and even less is available on intercultural encounters. The selected methodology for the study was discourse analysis which concentrates on analysing what the discussions do rather than what they are about. The data comprised of 17 video recorded prenatal genetic counselling sessions with women who were at an increased risk of having a baby with a chromosome abnormality due to advanced maternal age. The sessions were conducted in English by six genetic counsellors. The video recordings were transcribed and the transcripts and recordings were analysed based on Principles of Discourse Analysis. It was apparent during the initial phases of the analysis that there was a distinct order to the interactions with six specific phases being identified. Certain phases appeared significant, and as a result openings, decision-making and counselling phases were analysed further. Counsellor dominance in the interactions manifested in the number of strategies they had developed to guide the women through the counselling session. In their active participation, the counsellors identified the agenda and they controlled it throughout the interaction. During decision making, they used active strategies to assist the women to make a decision regarding having an amniocentesis performed. Even in the counselling segments where the counsellors and the women discussed issues related the women’s life, the initiation and development were controlled by the counsellors. In contrast to the counsellors’ dominance of interactional space, the women shared issues relating to their life world during the counselling segments. This apparent contrast seemed to create tension in the counsellors’ role as they had to either ‘educate’ or ‘counsel’. Tension was further created by the counsellors’ perceived obligations to practise in a particular way. Adhering to firmly embedded principles of the profession seemed to limit the counsellors’ practices and simultaneously prevented the achievement of these principles. The emerging tensions is thought to be related to the health care setting in which patients, as a result of social and political reason, have not been active participants in their healthcare decisions. The interactions were shaped by the health care system as it influenced the setting of the agenda, the order in the interactions and the counselling techniques used. The emerging phenomena could not be labelled as cultural and it was rather found that culture was inherent to the individuals and the setting in these interactions. The findings have implications for genetic counselling practice in South Africa as existing models of training and practice necessitate adapting to incorporate the insights gained. The contextual influences require consideration and the patients need to be made the focus of the sessions. A culturally sensitive model of genetic counselling as proposed in the study is thought to advance the profession towards true patient-centered Genetic Counselling practices.

Black South African women who have breast cancer have been found in general to be diagnosed at a younger age, have a more aggressive disease and a poorer prognosis in comparison to their Caucasian counterparts. However, there is a paucity of research related to the manner in which breast cancer is inherited in black South African families. It is also not known whether these individuals harbour deleterious mutations in breast cancer predisposition genes. As 5-10% of breast cancers have been shown to be inherited, in white populations, this study aimed to investigate family history and inheritance of breast cancer in black South African women. It also aimed to evaluate the use and consistency of existing risk assessment models in this population. A retrospective, file-based analysis of 45 black South African women who were diagnosed with breast cancer before the age of 50 years was performed. The probands were ascertained from the Genetic Counselling Clinic held weekly at the Breast and Plastic Clinic, Chris Hani Baragwanath Hospital. Information was obtained from the subjects’ genetic counselling files as well as the Oncology database that is housed at the Clinic. Information pertaining to the personal breast disease history of the probands as well as their family histories (three generation pedigrees) was entered into a spreadsheet and analysed. The results of this study indicated that there were very few young black South African women with breast cancer who had a significant family history of cancer (4/45; 9%). Family history is an important factor in assessing an individual’s breast cancer risks. Results also suggested that age at diagnosis may not be an appropriate predictor of inherited breast cancer risk in this population. A significant proportion of black South African women diagnosed with breast cancer younger than 50 years might be proven to have sporadic rather than inherited breast cancers. Three risk assessment tools (The Claus Model, the Tyrer-Cuzick Model and the Manchester Scoring system) were evaluated in this study. They were shown to have some degree of consistency and each had unique advantages and disadvantages of use within this population. The main limitation of these risk assessment tools is that they were designed based on data from Caucasian populations and as such their applicability to a non-Caucasian population has not been validated. Their true validity within this population can only be established once molecular genetic analysis has been performed. This study highlights the necessity of molecular genetic screening in this population in order to further delineate which individuals in this population are truly at an increased risk of developing inherited breast cancer. This information is important because it can inform which individuals would benefit from cancer risk assessments and various cancer prevention and reduction strategies. Information obtained from this study will be useful to direct future research in this population with respect to genetic counselling for inherited breast cancer.

Includes bibliographical references / Sickle Cell Disease (SCD) is an autosomal recessively inherited blood disorder that leads to a debilitating systemic illness. Although the disease was initially found predominantly in tropical and subtropical regions, SCD has now become a global health problem, due to migration of people from various countries with a high burden thereof. Consequently, the incidence of SCD in South Africa has increased dramatically over the last decade. This study, which constitutes a minor dissertation in fulfilment of an MSc (Med) Genetic Counselling degree, aimed to explore the knowledge and understanding of SCD among parents of affected children in Cape Town as well as identify burdens associated with caring for a child with SCD. Furthermore, the study assessed opportunities to improve genetic counselling services available to parents and explored their attitude to preventive policies. A phenomenological approach was used to conduct this research. Seventeen semi-structured interviews were conducted with the biological parent of a child attending the Red Cross War Memorial Children's Hospital Haematology Clinic. Participants were selected using both purposive and convenience sampling methods. Data collected during these interviews were analysed using thematic content analysis. Themes and relevant sub-themes were identified and grouped into three categories: knowledge and understanding; experiences and burdens; and attitude toward preventative policies. While the majority of participants had some knowledge of SCD, several misconceptions were discovered, often relating to participants' prior knowledge of the disease. A number of burdens experienced by participants were revealed, with both practical and psychosocial implications. Finally, it was found that the majority of participants supported all methods of screening for SCD, regardless of whether they would make use of the screening services themselves. Findings of this study provide valuable insights on the subject of experiences of parents of children affected with SCD as well as the potential role of genetic counselling services. This study contributes towards improving understanding and subsequent services provided to individuals raising a child affected with Sickle Cell Disease.

No description available.

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.

An optimization strategy for the design of composite shells is investigated. This study differs from previous work in that an advanced analysis package is utilized to provide buckling information on potential designs. The Structural Analysis of General Shells (STAGS) finite element code is used to provide linear buckling calculations for a minimum buckling load constraint. A response surface, spanning the design space, is generated from a set of design points and corresponding buckling load data. This response surface is incorporated into a genetic algorithm for optimization of composite cylinders. Laminate designs are limited to those that are balanced and symmetric. Three load cases and four different variable formulations are examined. In the first approach, designs are limited to those whose normalized in-plane and out-of-plane stiffness parameters would be feasible with laminates consisting of two independent fiber orientation angles. The second approach increases the design space to include those that are bordered by those in the first approach. The third and fourth approaches utilize stacking sequence designs for optimization, with continuous and discrete fiber orientation angle variation, respectively. For each load case and different variable formulation, additional runs are made to account for inaccuracies inherent in the response surface model. This study concluded that this strategy was effective at reducing the computational cost of optimizing the composite cylinders. / Master of Science

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.

published_or_final_version / Dentistry / Doctoral / Doctor of Philosophy

No description available.