Browsing by Author "Laing, Nakita"

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    Investigating the opinions on telephonic advanced maternal age genetic counselling
    (2024) Bayley, Samantha; Laing, Nakita; Malope, Malebo; Wessels, Tina-Marié
    Background: The research on telephonic genetic counselling (GC) services has increased since 2020. However, there is still limited research on the experience and opinions of this service from the patients' perspective. This is particularly true in low to middle-income settings such as South Africa. The advanced maternal age (AMA) telephonic GC service at Groote Schuur Hospital (GSH), has been implemented since COVID-19 regulations were enforced in 2020. This study aims to investigate the opinions and experiences of the patients on this telephonic service. Methods: This qualitative study used individual semi-structured interviews, both in-person and telephonic, and followed a phenomenological approach. The data were analysed using thematic data analysis. Results: The participants (n=9) had varying opinions about the telephonic GC service offered through GSH. The information gathering process varied for the participants; especially the differing Midwife Obstetric Units (MOUs) referrals and the information given. Some participants found online resources helpful, but not all participants felt the same. Overall, the participants felt the information given by the GC service was informative and useful. An important outcome of the research was a general trust between the GC trainee and participants but a distrust between other health care professionals and the participants. Numerous factors influenced decision-making concerning invasive testing including participants' fears and seeking control or having a sense of control based on if you would cope with having a child with DS. Conclusion: The distrust in the healthcare system can have a significant impact on patients' understanding and decision-making in a GC session. Overall, there are benefits and barriers to be aware of, but most participants found the GC session informative and allowed them to make informed decisions. This research included a limited sample size, which prevents the generalizability of these findings.
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    Parental Perspectives Regarding the Return of Genomic Findings in NeuroDevelopmental Disorders – A South African Study
    (2020) Diedericks, Angelique; De, Vries Jantina; Donald, Kirsten; Laing, Nakita
    Introduction: There is a lack of policies and research regarding the disclosure of results in genomic research, especially in South Africa. Challenges remain regarding the disclosure of genomic research results to research participants and their families, which may partly be addressed by considering parental and participants' preferences. This study serves as a sub-study to the NeuroDev study which is performing genotyping and exome sequencing on children with NeuroDevelopmental disorders in the Western Cape; and will investigate a feedback of findings method pertaining to the needs and preferences of the patient community. Aims: To investigate parents' understanding of the genomic research study they are participating in as well as their preferences regarding the feedback process and anticipated contributions of significant genetic findings generated by the NeuroDev study. This study further hopes to inform a tailored feedback policy reflecting the needs of this South African population. Research Design: A pragmatic qualitative approach was used by conducting 12 semi-structured interviews with 17 parents of children participating in the NeuroDev study. Purposive sampling was used, selecting retrospectively from patients recruited for the NeuroDev study in which findings of de novo, significant mutations are more likely expected. Interviews were conducted in English, in a private setting at Red Cross War Memorial Children's Hospital (RCWMCH), and were audio-recorded by the researcher; observations and field notes were documented. Generated data was analyzed using thematic analysis to generate themes and transcripts were imported into NVivo 12 to assist with managing and organizing the data for analysis. Ethical approval was been obtained from the University of Cape Town (UCT) (HREC 784/2018). Results: Empiric data collection ran from May to July 2019 and preliminary data was presented at the NeuroDev AGM and on a poster at the SASHG conference, RCWMCH research open day and UCT postgraduate research day. Findings were that the parents of the participants understood the study they were participating in as well as basic concepts of genetics, however, parental understanding over the cause of their child's condition remains a source of confusion when pertaining to their understanding of genetics being ‘passed down the family lineage' and how that integrates with de novo mutations. Furthermore, there is potential for it to impact on feelings of guilt. Parents have a need for information, discovering the cause of their child's condition and to be involved in the research process with full disclosure as events unfold. Altruism seems to be a major motivator for participating in genomics research but personal and family benefit also served to be a key driver in that research results could potentially provide awareness and information regarding their child's condition, the management thereof and recurrence risk in future. Participants in this study want pertinent research results which could offer closure, acceptance and relief, however, differences over the meaning of such results were observed between those whose child already had a diagnosis versus those whose child remained undiagnosed. Furthermore, receiving non-pertinent and negative result was still perceived to be meaningful for some. Further diversity was observed in parental preferences for the explanation of preliminary results. Discussion: Given that non-pertinent results still hold value for participants, consideration should be given as to more extensive ways of communicating this if such results are not to be returned since results are generally viewed as a point of access to information or relating to their child's condition. Diverse preferences regarding when and what participants want to know for results feedback needs to be addressed in order to facilitate a guidance framework for the delivery of genomic research results and can perhaps take the form of a tiered-consent model for feedback of incidental findings. As such, genetic counsellors may have a valuable role to play in facilitating participant satisfaction and bridging the gap between researchers and public expectations. Ethical considerations: Consent was taken before commencement of the study. There were no risks with regards to participating in this study and participants had the freedom to withdraw at any time and at their own discretion.
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    Parents' perspectives and experiences of having a child with hereditary hearing loss
    (2016) Ross, Sinead Amber; Wonkam, Ambroise; Laing, Nakita; Mall, Sumaya
    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.
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    Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa
    (2018) Ingram, Clair; Wonkam, Ambroise; Laing, Nakita; Mall, Sumaya
    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.
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    Perspectives and Experiences of Individuals Undergoing Predictive Testing for Hereditary Breast and Ovarian Cancer (HBOC) Syndrome in the Western Cape, South Africa.
    (2018) Araujo, Monica Rodrigues; Laing, Nakita; Wessels, Tina-Marié; Schoeman, Mardelle
    Breast cancer is the most common malignancy affecting females globally. Hereditary breast and ovarian cancer (HBOC) syndrome is caused by pathogenic variants in BRCA1 and BRCA2 and is seen in approximately 50% of families with a strong history of breast and ovarian cancers. Predictive testing (PT) is offered to unaffected individuals with a positive family history of HBOC, with an already identified BRCA1 or BRCA2 mutation in an affected family member. There is an overwhelming amount of research that has focused on the after-effects of diagnostic genetic testing for HBOC but there has been little investigation into how individuals experience the actual PT process. The present study therefore aimed to investigate individuals’ decisions for undergoing and their experiences of PT for HBOC in a local context, by focusing on at-risk South African individuals residing in the Western Cape Province. Sixteen participants were recruited retrospectively from the breast cancer and/or clinical genetics clinics at Groote Schuur Hospital, Tygerberg Hospital and private genetic counselling practices in Cape Town. Semi structured interviews were conducted, and the interview transcripts were analysed using the framework approach for qualitative data analysis. Using this approach, five themes were identified relating to the perspectives and experiences of individuals undergoing PT for HBOC, in selected settings in the Western Cape. While some participants felt that their decision to pursue PT was influenced by their family history of cancer and the associated cancer-related distress, others felt that their decision was made out of a sense of duty to their families or in solidarity with those that were affected or received a positive test result. Overall, the participants felt that the pre-test counselling was beneficial in allowing for an improved understanding of HBOC, however not all participants felt that the pre-test counselling prepared them for receiving their results. Receiving a negative test result was often accompanied by feelings of guilt and did not exempt participants from the fear of developing cancer. Some of the concerns raised by participants that received a positive test result were centred around prophylactic intervention and its effect on body image. Overall, participants felt empowered by their mutation status and felt that they were better able to manage their risk. The need for additional support, both practical and emotional support, was particularly evident amongst mutation-carriers. The findings of this study provide valuable insight into the perspectives and experiences of this population, which could potentially impact the services that are provided to individuals undergoing PT for HBOC in similar settings.
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    The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations
    (2019) Muchada, Irene Farisai; Fieggen, Karen; Laing, Nakita; Davies, Elin Haf
    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.