Includes bibliographical references / There are a range of conditions, collectively known as fetal alcohol spectrum disorders (FASD), which result from the exposure of a developing fetus to alcohol. South Africa has among the highest rates of FASD reported in the world, especially among the impoverished communities in the Western Cape region, with rates of up to 208.8 per 1000 first grade learners being reported. The need for screening, surveillance and immediate prevention work has been stressed. Limited research has been conducted on understanding the experiences of parents who raise children with FASD. This is invaluable in understanding what needs, support, services, education and funding is required. The Foundation for Alcohol Related Research (FARR) recently conducted a FASD epidemiological study to assess the burden of FASD and guide the implementation of prevention work in high risk areas. Grade one learners from 14 West Coast schools were diagnosed, and their mothers received a diagnostic feedback and counselling session. The aim of the rese arch project was to explore the experiences of women who have received an FASD diagnosis for their child and to understand their comprehension, feelings and needs. Thirteen participants were recruited through FARR and semi-structured interviews were conducted at Vredenburg Private Hospital in the West Coast region of South Africa. Additionally, three community workers were interviewed. The data was analysed using a thematic content analysis approach and five themes were identified. The research identified that the social context in which these women live has caused them to fall victim to their circumstances, contributing to their drinking habits. Their experiences of living with an FASD child are difficult and most women feel guilty while others are in denial. Although these women know that alcohol was the cause of their child's problems, there were a number of misconceptions such as the amount of alcohol to cause harm, which parent was responsible and that drugs are safer than alcohol use during pregnancy. Furthermore, the mothers found it helpful to know the diagnosis. This helped them understand their child's problems. They felt strongly that they will abstain from alcohol use during pregnancy and that they will encourage other women to do the same. There was a need for further education and context-sensitive intervention work. This research will impact strategies to support families, help to improve services and guide prevention work in this area.

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.

Includes abstract. / Includes bibliographical references (leaves 127-134). / Alpha thalassaemia X-linked mental retardation (ATR-X) syndrome is a rare, X-linked intellectual disability syndrome with an estimated prevalence in the range of 1-9/1 000 000. The prevalence in South Africa (SA) is unknown; however in Cape Town there is one extended family with seven males who were clinically, and later molecularly, diagnosed with this condition. Due to the identification of the mutation in this family, carrier and prenatal testing is available. However, since the announcement in 2007 that testing is available, no individuals have presented themselves for their carrier status to be determined. The aim of this study was to investigate the reasons why females in this family have not presented for carrier testing.

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.

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.

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.

The central investigative concern of this thesis is the culture of genetic counselling in Canada--a specialized health service providing information and assistance to families at risk from genetic disorders. In particular, this study describes the variability that exists in the way in which genetic counsellors view their profession and explores the factors that contribute to this variability. The genetic counsellors' training, division of roles, view of their responsibility toward clients, and the historical and contemporary context in which they practise contribute to understanding the "individuals' versions of the culture of [genetic counselling]'' (Hahn 1985:53). Three means of inquiry are utilized: extensive library research, responses from a Canada-wide questionnaire sent to genetic counsellors, and ethnographic interviews. The history of genetic counselling has been described as a series of changes from research to medicine to psychosocial concerns. Current definitions of adequate genetic care, however, stress attention to both the medical genetic and psychosocial aspects of genetic disorders suggesting that both a medical and a psychosocial paradigm now exist in genetic counselling. I argue that the association between these two paradigms is unclear, thus producing tension and ambiguity for practitioners. Genetic counsellors divide themselves into three groups--MD/MD-PhDs who are the central caregivers, PhD geneticists who are primarily involved in research, and nonMDs/nonPhDs such as nurses, social workers and master's level genetic associates who are often doing clinic-oriented clerical jobs. Nevertheless, indicative of the uneasy relationship between the paradigms of genetic counselling, considerable debate exists in the field about who should be providing genetic counselling. A further example of this paradigmatic tension concerns the implementation of genetic counselling goals, especially for physician geneticists, the central caregivers. In particular, genetic counsellors face the problematic task of "doing something" for their clients, making them aware of their options, without influencing the client's decision making. The contemporary context of genetic counselling is predominantly a medical one; although psychosocial concerns are acknowledged as important for adequate genetic care, the means for dealing with them are not clear. I suggest that the response to the underlying tensions in genetic counselling is ultimately an individually-constructed response, based on the individual practitioner's experience, interpretation of the facts, and notion of the boundaries of their responsibility in medicine. / Thesis / Master of Arts (MA)

ABSTRACT Fetal abnormalities are congenital abnormalities that are identified prenatally, which may be structural or functional in nature. Genetic counselling is a non-directive and non-judgmental process of information-giving, at the same time as providing psychosocial support. It is offered to women and their partners who have a fetal abnormality detected during pregnancy. When a fetal abnormality is detected, the patient can sometimes be offered a termination of pregnancy, and the decision of whether or not to continue the pregnancy is made by the patient. The first aim of this research was to conduct an audit of the genetic counselling service provided by the Division of Human Genetics, NHLS and WITS, in order to assess the level of service being offered to patients with diagnosed fetal abnormalities. The second aim of the research was to determine what factors, if any, influenced the decision patients made regarding whether to continue or interrupt their pregnancy. One hundred and seventy one files of women, who received genetic counselling for an identified fetal abnormality during pregnancy from the division between 2002 and 2006, were included in the retrospective clinical audit. The patients seen for genetic counselling represent 1.1 % of the estimated number of women in Johannesburg who could have had abnormalities detected prenatally, based on the prevalence of congenital disorders in the area and an ultrasound prenatal detection rate of 56.2 %. Two thirds of patients who were offered TOP chose to terminate their pregnancy. The most clinically significant predictor of the decision to terminate an affected pregnancy was found to be an earlier gestation at offer of TOP, which suggests that earlier detection and diagnosis of abnormalities is beneficial to patients. Overall, 62 % of patients were not offered genetic counselling follow-up appointments after conclusion of their pregnancy. The genetic counselling service offered to patients thus needs to be improved, in particular, the follow-up service patients receive after TOP or delivery is not adequate.

This thesis studied genetic counselling for haemoglobinopathies within maternity settings that catered for a relatively large at-risk population. In total four separate studies were conducted, two were undertaken to assess the feasibility of counselling parents of neonatal traits and current practices of other haemoglobinopathy centres in this area.  The counselling and screening facilities available to pregnant women and their partners were also explored in a third survey and a final study looked at the knowledge/skill base of midwives at the forefront of maternity services. These studies collectively provided a unique insight into genetic counselling for carrier individuals within maternity settings in Birmingham. In the first study (Centre Survey - CS) the key findings highlighted that not all centres routinely followed up neonatal traits in the same way as those diagnosed with a major haemoglobinopathy. Likewise disparities existed in the way appointments were made and the venues used for counselling appointments. In the Neonatal Trait Survey (NTS) a knowledge, attitude scale and emotional reaction of parents were used as outcome measures to assess the effect of counselling parents of neonatal traits.  The findings highlighted a significant improvement in respondents’ knowledge of sickle cell trait (SCT) and the disorder (SCD) after counselling. Attitude responses also demonstrated significant improvement post counselling. The Antenatal Survey (ANS) provided a ‘snapshot’ of counselling experiences of at-risk women and their partners at their antenatal clinic appointments (in particular during booking clinics). The findings showed deficits in counselling of genetic risk and reproductive options (including the availability of prenatal diagnosis [PNS]). The final study, the Midwives Survey (MWS) examines the knowledge/skill base of midwives in providing counselling for at-risk couples. The findings of this survey showed that midwives did not have the necessary knowledge and counselling skills to meet the needs of this client group.

In South Africa, approximately 600 000 individuals are visually impaired. Approximately onethird of genetic disorders and syndromes involves the eye, including conditions such as congenital cataracts, glaucoma, albinism, and retinal degenerative disorders. The transition into adulthood of visually disabled individuals is a crucial time, as it lays the foundation for their future. The aim of this research was to explore the level of understanding, perceptions and lived experiences of young adults aged eighteen to twenty-three who are visually impaired due to a genetic cause. A qualitative design, utilizing a phenomenological approach was used for this study. Fifteen participants were recruited through Athlone School for the Blind, the League of Friends of the Blind and Retina SA. In-depth interviews were conducted and data obtained was analysed using thematic analysis. Five themes were identified through this approach indicating the implications of having a genetic visual condition as perceived and experienced by these young adults. Most of the young adults experienced difficulty in understanding their condition and the genetic bases thereof and they had a strong desire to obtain clarity and knowledge via genetic counselling. The community was thought not to understand their situation either. They were unsure of the inheritance risks to future offspring and some indicated that they felt that this was a gamble they were unwilling to take, whilst others would have children. In some instances, their own visual impairment might create obstacles to raising children. Social interactions were greatly impacted and they felt isolated and tried to avoid unpleasant treatment, stigmatization and pity from the community. Intimate relationships were also noted as a challenge. Mobility is a major obstacle due to the incapacity to drive, as well as the lack of disability user-friendly public transportation and a daunting environment. They want to and feel that they can be independent and achieve the same things as sighted individuals, but society and life circumstances often create barriers to this. This research could assist in providing information to create more efficient, patient-centred genetic services and might be informative to various organizations about targeted support to provide these individuals and methods to assist their transition to adulthood.