Mothers' experiences of genetic counselling in Johannesburg, South Africa.

Genetic counselling is offered in diverse settings, and patient reactions vary due to differences in personal, family and community beliefs, local healthcare settings, as well as cultural background. Together, these factors influence how individuals experience genetic counselling. This study aimed to describe and document the experiences of thirteen mothers, with children with Down syndrome, oculocutaneous albinism or haemophilia B, who had received genetic counselling at state hospitals in Johannesburg, South Africa. A qualitative research design drawing on principles of Interpretative Phenomenological Analysis was used. Four voice-recorded focus groups were conducted and the resulting data were analysed using thematic content analysis. Five themes were identified in the data: thrown into the unknown; a worthwhile experience; a break in communication; telling the family and the community; and spreading the word. It was seen that genetic counselling cannot be viewed as a singular experience, but rather as one which is influenced by mothers' lived experiences and their interactions with other healthcare services, family and community members. The results from this study showed that genetic services and conditions were poorly understood, that the experience of genetic counselling varied amongst mothers, and on-going patient support is needed particularly when addressing family and community members. Further research is needed to assess what information is valuable to individuals during genetic counselling and how to deliver this information in a contextually appropriate manner. Greater awareness of genetic conditions is also required amongst communities and healthcare professionals. Valuable insight was gained from this study which can be used to improve local training programmes and genetic counselling services in Johannesburg, and in South Africa.

The influence of HIV status on prenatal genetic diagnosis choices.

BACKGROUND: At-risk women of advanced maternal age (AMA) can choose to have second-trimester invasive testing for a prenatal genetic diagnosis on the fetus. Being HIV-positive can complicate the decision-making process. OBJECTIVE: To document HIV status and prenatal genetic diagnosis choices in women of AMA attending genetic clinics in Johannesburg, South Africa, for counselling on the risks of abnormalities in their fetuses. METHODS: Data on the characteristics of the sample, HIV status and prenatal diagnosis decisions were collected retrospectively from the files of 350 women (>34 years) counselled for AMA in genetic clinics in Johannesburg and Pretoria. The time period was 6 months in 2003 and 6 months in 2004. A sample of the women (n=15) who were HIV-positive were interviewed and completed questionnaires on their understanding of their situation. The data were analysed and submitted to statistical testing. RESULTS: Of the 350 women, 183 (52.3%) were HIV-negative, 44 (12.6%) HIV-positive, and 123 (35.1%) of unknown status. Significantly more HIV-negative patients (79/183, 43.2%) than those who were HIV-positive (6/44, 13.6%) had amniocentesis performed for fetal diagnosis. Most of the interviewed women (12/15, 80.0%) understood the severity of HIV infection, 5 (33.3%) considered termination of pregnancy based on the transmission risk, and 4 (26.7%) would have requested amniocentesis and prenatal diagnosis if they had been HIV-negative. CONCLUSION. Decision-making regarding prenatal genetic diagnosis is influenced by HIV status among older women. Effective access to highly active antiretroviral therapy throughout pregnancy would make decision-making easier for these women.

Genomics in nursing education.

PURPOSE: To review international efforts to incorporate genetics content into nursing education curricula. ORGANIZING FRAMEWORK: A discussion of the progress in nursing education programs in selected countries to educate students for genomics-based health care. Information is based on review of the literature and curriculum change efforts by the authors. CONCLUSIONS: The lack of agreed-upon minimum competencies impedes efforts to educate nurses for genomics-based health care. Nationally and internationally recognized documents are useful for collaborative efforts to establish minimal competencies in knowledge, skills, and attitudes for nurses with basic and advanced education. Curriculum change that incorporates minimum competencies will require nursing faculty to improve their knowledge base in genomics-based health care. Partnerships among nurses in different countries are needed for successful genomics education programs for faculty.