Jennifer G.R. Kromberg

Genetic services and testing in South Africa

South Africa is a developing middle-income country with a population of over 49 million people. It has a health system, based on national, provincial and private health programmes, which is in transition. There are well organised but small genetic services, based mostly in academic centres, provincial health departments and the National Health Laboratory Service. Trained medical geneticists, genetic counsellors and medical scientists are available to deliver the service. Funding for this service is limited, due partly to the extensive demands made by the rampant HIV/AIDS epidemic (which has lead to a falling life expectancy, and increasing maternal, child and infant mortality rates) and partly due to some ignorance, among both health professionals and the public, concerning the benefits of genetic counselling and testing in affected families. There are four academic human genetics departments across the country providing counselling (7,313 cases were counselled in 2008), testing services (16,073 genetic tests were performed in 2008) and professional training. They also undertake research. Only one tenth of the required staff, according to the WHO recommendations, is available at present to provide these services, and further employment opportunities are urgently required. However, training of professionals continues, comprehensive genetic testing facilities are available, research on many of the genetic conditions of specific concern to the country has been and is being undertaken, and patients from all over Southern and Central Africa make use of these services.

Genetic Counseling for Fetal Abnormalities in a South African Community

Fetal abnormalities are congenital abnormalities identified prenatally. Women who have a fetal abnormality detected often have to make difficult decisions regarding continuation or termination of the pregnancy. The aims of this research project were: to investigate some of the factors that influenced the decision to terminate a pregnancy in which fetal abnormalities were diagnosed; and to determine the implications for genetic counseling practice in South Africa. The study was retrospective and file-based. A total of 171 women counseled for fetal abnormalities, between 2002 and 2006, were identified and relevant data were collected from their records. Altogether 116/170 (68.2%) women were offered termination of pregnancy, and 73/113 (65%) requested the procedure. Early gestation, gestation at the time termination was offered, and ethnicity of the patient, were significantly associated with a termination request. Black patients were less likely to request termination, but more likely to receive a late diagnosis than other patients. Genetic counselors need to adopt an advocacy and educational role to improve this situation. Furthermore, a better understanding of the cultural and ethnicity-related issues is required.

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.

Epidemiology of Albinism

Abstract The prevalence of albinism has been studied over many decades, but much research has not been stringent and the epidemiology is still poorly understood. In Europe, the prevalence rate is estimated at 1 in 20,000 (although Norway and Ireland have rates of around 1 in 10,000). In the United States it is 1 in 16,000 but higher in isolates, e.g., the American Indian Hopi from Arizona, it is 1 in 227. In China, rates are estimated to be about 1 in 18,000. However, in Africa, rates are generally higher and average at 1 in 4000–5000 and about 1 in 1000 in some isolates. Prevalence can change over time, in various geographical regions of the same country, according to prevailing cultural norms, population characteristics, and the availability of health and support services. Also, it has not been established whether there is any heterozygote advantage. Further studies are required to obtain more accurate prevalence rates and determine etiology.

Clinical Features, Types of Albinism, and Natural History

Abstract The main clinical features of albinism are associated with hypopigmentation, which results in pale skin, susceptible to skin cancer, and impaired vision. Intelligence is within the normal range. Fitness and fertility are probably slightly reduced, in Africa, possibly because of sociocultural rather than physiological reasons. Life expectancy may also be slightly reduced, particularly where health and education services are poor and difficult to access. The commonest type of albinism found in Africa is oculocutaneous albinism type 2 (OCA2) (including subtypes with (OCA2AE) and without pigmented freckles (OCA2A), and OCA2B (brown OCA), followed by the OCA3 (rufous); while OCA1 is very rare. These types have different clinical characteristics and can usually be distinguished accordingly, if necessary. The characteristics in a cohort of affected people, including persons with all these types (except type 1), are presented. The natural history is covered from birth to death, so that parents and health professionals can be prepared, when an infant with albinism is born.

A Personal Perspective: Living With Albinism

Abstract Research on albinism has been conducted in Johannesburg, South Africa, since 1971. Early on, the Ngwenya family, who had 10 children of whom five had albinism, became involved. Between Nomasonto, the second youngest, and the researcher (JGRK) a relationship built up over the years. Together, they wrote the present chapter, which tells the story of Nomasontos life. She was well cared for as a child, overcame the few negative experiences she had due to her albinism, and developed as an empowered and assertive individual. She trained as a teacher, married in 1975, and had four children. In 1992 she established the Albinism Society of South Africa and became an active advocate for albinism. Recently, she was invited onto the Gender Commission of South Africa and represented it twice at United Nations meetings in New York. She is excited about the future for albinism awareness and research, as well as for herself and others with albinism.

Introduction and Historical Background

Abstract In this chapter the topic of albinism in Africa is introduced, the motivation for writing a book on this condition is covered, terms used are defined, and the nature of the wide-ranging contents is described. Aspects discussed in the book include the historical background, clinical, epidemiological, molecular biology and genetics, dermatological, ophthalmologic, low-vision rehabilitation, psychosocial and cultural, genetic counseling, and genetic testing, as well as human rights, disability, marginalization, management, prevention, social support groups, and a personal perspective. The relevant historical research literature on albinism is reviewed, focusing on projects conducted in Africa. Published records of the condition start at least two millennia ago; experts suggest that Noah was the first person with albinism to be described. Thereafter, the condition has been observed and reported by travelers, explorers, doctors, and missionaries in people throughout the world. However, prevalence is generally higher in Africa than elsewhere and the health and cultural problems faced by affected people are more severe.

Interventions: Preventive Management, Empowerment, Advocacy, and Support Services

Abstract If the health needs of a person with albinism are neglected, the complications associated with the condition may cause serious problems leading to a poor quality of life and early death. Therefore, interventions are necessary to prevent these complications from developing and worsening. Ideally, the parents should have crisis, health, and genetic counseling soon after the birth. They should also be encouraged to access skin care and visual assessment for the child and deal with any educational problems proactively. Families are often disempowered by the disability and community reactions to it and require empowerment to cope in their difficult situation. Advocates are needed to take up the cause of people with albinism, so that their needs are recognized and met. Support services, in the form of groups, are beneficial to families and provide essential information, encouragement, and understanding. Active Albinism Societies are developing in many African countries, playing advocacy roles and improving the quality of life for affected people.

Genetic Counseling and Albinism

Abstract Because oculocutaneous albinism is a genetic disorder, every family with a member with albinism should be offered genetic counseling. Such families may have a limited understanding of the genetics of the condition and of the associated health, psychosocial, and cultural aspects, indicating their need for genetic counseling. The benefits of such counseling have been documented, and the relevant information provided is empowering, leading to improved feelings of personal control and hope for the future. During a counseling session a family history is collected, the diagnosis, prognosis, and mode of inheritance is discussed, recurrence risks are calculated, reproductive options are given, and management of the medical and psychosocial aspects of the disorder are explained, by a trained, knowledgeable, and empathic genetic counselor. Although the availability of genetic counseling services in Africa is limited, there are comprehensive services in South Africa, and services are developing in four other countries across the continent. The provision and utilization of genetic services should be promoted.

Human Genetics and Genomics and Sociocultural Beliefs and Practices in South Africa

In this chapter, the interaction between genetics, genomics, and the sociocultural beliefs of South Africans is discussed. The population of the country is about 52 million people with diverse origins and cultural backgrounds. Genetic services can provide only about 10% of the country’s need and often cross-cultural counselling is required, so that an understanding of local cultural practices is essential. Albinism is the most common inherited condition in the black population, but it is associated with ignorance about the etiology, stigmatization, and superstitions which make life difficult for affected people. The use, by the local black population, of traditional healers’ services also complicates the provision of genetic services. Finally, modern technology may give results regarding the origins of ethnic groups that conflict with their oral history. These examples expose the clashes that can occur during the interaction of genomics and culture in a developing country.