Browsing by Author "Schoeman, Mardelle"

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    An investigation into the level of genetic knowledge and family communication regarding genetic risk in parents of children with cystic fibrosis
    (2007) Schoeman, Mardelle; Futter, Merle; Greenberg, Jacquie
    The aims of the present study were to determine the level of genetic knowledge of parents with a child with cystic fibrosis; to determine the impact of the birth of a child with cystic fibrosis upon subsequent reproductive choices and to investigate family communication about genetic risk. A qualitative approach was selected as it aims to understand, attempts to make sense of and provides descriptions that portray the richness and complexity of ordinary events from the perspective of the participants.
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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.