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.

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.

Introduction: Fragile X Syndrome (FXS) is the most common genetic cause of intellectual disability (ID) and Autism Spectrum Disorder (ASD). It is caused by the expansion of CGG (Cytosine, Guanine, Guanine) repeats at the 5' untranslated region (UTR) of the Fragile X Mental Retardation gene 1 (FMR1). This gene codes for the Fragile X Mental retardation protein, which is responsible for healthy brain development. This condition is transmitted through an X-linked dominant pattern and is known to affect approximately 1 in 2500–4000 males and 1 in 7000–8000 females. In 2011, two siblings received a positive diagnosis of FXS at the Child Neurology Unit of the Yaoundé Gynaeco-Obstetric and Paediatric hospital in Cameroon. Informal data from the first consultation with their mother (P0), showed that she related her children's condition to a curse from her maternal grandfather, the village's chief. This prompted us to ask four research questions for this project: What is the transmission pattern for FXS in this family? How do families and communities explain the pattern of FXS and other inherited forms of ID in the village? What is the impact of receiving a genetic diagnosis on individuals, families, and communities? And what are the stigma experiences around FXS in this community? As a first step to gather empirical work, a scoping review of the lived experiences of FXS caretakers was conducted. It was revealed that these experiences could broadly be summarised into four main themes, namely: grief experiences, challenges of living with FXS, coping mechanisms, and the need to plan for the future of children with FXS. From this review, it was noted that healthcare workers had limited knowledge and a lack of expertise regarding FXS, whilst there was an overall lack of African qualitative literature on FXS. This set the precedent for the second and third components of the project. Methodology: An ethnographic approach was used in this study. Snowball sampling was used to recruit 92 participants who were 18 years old and above. A topic guide was used to gather data through 10 focus group discussions and 23 in-depth interviews with NVivo 12 used for data analysis. The questionnaire explored participants' understanding of FXS, their lived experiences, the stigma association with FXS, and the effects of receiving a positive or negative genetic diagnosis. Moreover, cascade counselling and testing for FXS was offered to 46 participants. Data gathered from this component was analysed using Epi-info 7.2. and pedigrees were drawn using Cyrillic 3.0.400. Results & Discussion: Cascade testing included 58% of participants (n = 27/46) that were females. The FXS laboratory diagnosis of females showed 14.81% (n = 4/27) with a full mutation, 37.04% (n = 10) had a premutation and 48.15% (n = 13/27) were normal. On the other hand, 21.05% (n=4/19) males had a full mutation. The analysis of this family's pedigree further revealed that the founder of this family was probably a normal transmitting male carrier. Moreover, people in the community and this family described the causes of FXS or inherited forms of ID in four different explanatory models. The curse model was the primary explanatory model and is based on a curse from the chief who bewitched his daughters and wives because they did not mourn his ID servant. Other explanations were the spiritual model that relates FXS to a punishment from God and the psychosocial model, which attributes FXS to events in the prenatal and perinatal periods. Finally, the genetic model is an emerging explanation resulting from the return of the FXS genetic result. Furthermore, receiving a genetic diagnosis resulted in two main themes which were psychological adaptation and communication of the genetic risk of FXS. Receiving a diagnosis was associated with happiness and relief, while the latter described genetic guilts, survivor guilt, and frustrations associated with a family history of FXS and taking care of developmentally delayed children. Lastly, in this community, we identified public stigma directed towards the royal family and courtesy stigma experienced by the royal family members. Most interviewees believed that people from the royal family should have a unique way of addressing FXS children from the chieftaincy because of their position in society. Due to their social position, the royal family uses their status to negotiate marriages with community members. Conclusion: Early detection of carrier status will increase family planning options through genetic counselling, premarital screening, and prenatal diagnosis. My findings identified specific sociocultural challenges that should be addressed during the development and implementation of genetic counselling services. Returning the result of a genetic test can create feelings of guilt in the patient and their relatives. Over time, these families can develop coping mechanisms that revolve around preparing future generations about the risk of having FXS. Hence, health care workers or people who are comfortable talking about FXS should serve as intermediaries for affected families.

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.

Congenital hearing loss (HL) occurs in 1-2 per 1000 newborns globally. Of all the congenital diseases that occur worldwide, HL remains the most disabling, with the highest rate for age-standardised disability life years and is a significant public health concern particularly in the developing world. In South Africa, 6 in 1000 newborns, have disabling HL. Genetic aetiology accounts for half of the cases of prelingual HL and of these 70% are nonsyndromic. There is ongoing research into the genetic basis of HL in the South African setting as at present, genetic testing for HL is largely uninformative in most African populations. Previous studies have examined the psychosocial challenges experienced by parents related to their child's HL, but in South Africa there have been no studies investigating the hereditary aspects of HL and how they may be related to the experiences of parents. Furthermore, the understanding and comprehension of genetics concepts is unknown in this population and needs to be explored before appropriate genetic counselling may be provided to parents of children with hereditary HL. Therefore, the aim of this research was to examine the perspectives, experiences and understanding of parents, whose children are deaf, potentially due to a nonsyndromic genetic aetiology, in a selected setting in Cape Town. Eleven participants were recruited through the clinical genetics service at Red Cross War Memorial Children's Hospital and the Dominican School for Deaf Children in Cape Town. Semi-structured interviews were conducted, and the transcripts analysed using the framework approach for data analysis. Through this approach, five themes were identified relating to the experience of parenting a deaf child, parents' understanding of the cause of their child's HL and the way that their child's difference or normalcy is perceived. Most parents were unable to identify the cause of their child's HL unless there were previous cases of HL in the family, but almost all were interested in pursuing genetic testing to assist them in finding answers. The time from the diagnosis had been an emotional and confusing time for many of the participants, who found means to cope and adapt to their child's HL through faith and support systems. Each of the participants had a unique experience with regards to their child's HL, some needing to make sacrifices and overcome practical challenges in order to provide for their child. Participants both rejected shame and pity with regards to their child's HL and embraced that their child was different, part of the Deaf world, but that this difference does not define them. This research could influence the genetics services provided for this population. It is imperative to understand the experiences and comprehension of this population so that improvements can be made to provide appropriate services.

Includes bibliographical references. / The aim of this study was to explore possible factors that may affect non-adherence and adherence to surveillance guidelines for mutation positive individuals who are at high risk of developing CRC in the areas of the Northern Cape of South Africa. The study took place in rural, impoverished areas of the Northern Cape of South Africa and used a qualitative, exploratory research design to prospectively study the participants.

Includes bibliographical references / The burgeoning knowledge in genetics implies that genetic services (including clinical and counselling) will be in increasing demand in the future. This study investigated South African doctors' genetic education, knowledge and attitudes towards genetic services and examined whether these factors affect referral to genetic services. Several studies have indicated that health professionals have poor understanding of genetics and genetic conditions, and this lack of insight extends to knowledge of genetic services and how and when to access them, so that those who would benefit from services might not gain access to them because they are not referred by their doctors (Delikurt et al., 2015). METHODS: A questionnaire was developed based on published research and questions relating to the aims of the project. Forty-one questions were asked, covering referral patterns, demographics, education, knowledge and attitudes to genetic services and genetic counselling. The sample population consisted of 140 GPs attending a family practitioners' conference. Fifty-one responses were received. Results were analysed using descriptive statistics and content analysis of open-ended questions. RESULTS: Results show that 52.9% of general practitioners have referred to genetics in the past, 92.2% think they will refer in future and only 49% know how to access genetic services. Doctors who knew how to access genetic services were more likely to have previously referred patients to these services. Almost half the doctors who had not used genetic services previously felt that genetic services were difficult to access and several attributed this to their lack of knowledge. Doctors who had the most education were more likely to have previously referred patients to genetic services. Doctors indicated that they would like more education on basic genetics, common genetic conditions and genetic services via forums such as conferences, CME activities and online resources. More than half of the doctors rated themselves as "not confident" in their genetic knowledge. Down syndrome was the most commonly seen genetic condition in practice, followed by cystic fibrosis and breast cancer. More than 80% of respondents did not know about direct-to-consumer testing, but 46% thought they might be approached to interpret the results of a direct-to-consumer test in future. Doctors showed poor understanding of the ethics of testing minors for genetic conditions. Genetic services and genetic counselling were seen as indispensable by 66.7% and 74.5% of doctors respectively. CONCLUSIONS: Overall, doctors' knowledge of genetics seems poor and most of them indicate they would like more education on basic genetic concepts, referral guidelines for genetic services and how to access genetic services, which agrees with the amount of education being the most important factor relating to previous referral to genetic services. This study will provide guidance for awareness and education programmes, and inform the future development of genetic services in South Africa.

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.

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.

Background: Precision Medicine (PM) is a model whose goal is to tailor healthcare to meet the individual patient’s treatment and management needs. Precision Management of Epilepsy in South African Children (PME) is an on-going study at the University of Cape Town (UCT) gathering preliminary insight into the potential of PM initiatives which include remote monitoring with a wearable device, a phone app and a genetic and pharmacogenomics study in a South African setting. Feasibility and acceptability of new innovations is dependent on caregivers. This sub-study aims to better understand the caregivers’ experiences, perceptions and expectations of the PME initiatives. Methods: Ethical approval was obtained from UCT for this qualitative sub-study (HREC 775/2018). Twelve participants were purposively recruited from a cohort of 40 caregivers of children with refractory epilepsy recruited for the PME study attending Red Cross War Memorial Children’s Hospital in Cape Town, South Africa (SA). Face to face semi-structured interviews were conducted and themes were extracted using a thematic framework approach. Results: The knowledge of the aetiology of epilepsy was limited for most participants whose beliefs included medical, spiritual and traditional causes. Poor seizure control despite medication has resulted in an ongoing search for sources of cure and the right medication(s) and dose which impacts on adherence. The majority of participants showed limited understanding of what precision medicine is and did not fully understand the PME study. However, most felt that if properly implemented, these measures would be beneficial in caring for Children with Epilepsy (CWE). The mHealth devices introduced new feelings and challenges. The four themes which emerged were: 1) Cause of epilepsy: uncertainty and conflicting views; 2) Need for healing; 3) PME mHealth devices; 4) Feasibility of Feasibility of implementation of PME initiatives. Conclusions: The cause of epilepsy was generally misunderstood but caregivers felt that PM could help unlock the unknown cause of the refractory epileptic seizures. Most caregivers harbour insecurities about treatment efficacy and are in a constant search for optimal therapy. Adherence to medication is central to controlling seizures but was inconsistent for most participants for a number of reasons including health care access and uncertainty about the benefit gained. The mHealth devices, particularly the phone app, was perceived to be helpful especially in improving adherence but created an additional burden for many participants. This sub-study generated beneficial information for understanding caregivers’ current level of understanding of epilepsy and the PME initiatives and the potential benefits and challenges in future implementation of PM in SA.