Arnold Christianson

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

Community genetics. Its definition 2010

This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the definition.

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.

Reproductive choices made by South African mothers who have a child with Down syndrome

Student Number : 9703129J - MSc(Med) research report - School of Pathology - Faculty of Health Sciences

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.

Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations

Medical genetic services for the care and prevention of congenital disorders have received little attention in most middle- and low-income countries to date. In 2010, the World Health Organisation prioritized services for the care and prevention of birth defects in these nations, emphasising their importance in assisting such countries to reach their Millennium Development Goals. Health Needs Assessment is an inclusive, rational, epidemiological-assisted approach for providing information to plan, introduce and beneficially change health care services to improve the health of populations. It is intrinsic to much of the development of health care systems in industrialised nations. Its use by middle- and low-income countries to introduce and develop medical genetic services commensurate with their needs and circumstances would be beneficial. An approach to applying Health Needs Assessment in these circumstances is described.

The Greater Sekhukhune-CAPABILITY outreach project.

The Greater Sekhukhune-CAPABILITY Outreach Project was undertaken in a rural district in Limpopo, South Africa, as part of the European Union-funded CAPABILITY programme to investigate approaches for capacity building for the translation of genetic knowledge into care and prevention of congenital disorders. Based on previous experience of a clinical genetic outreach programme in Limpopo, it aimed to initiate a district clinical genetic service in Greater Sekhukhune to gain knowledge and experience to assist in the implementation and development of medical genetic services in South Africa. Implementing the service in Greater Sekhukhune was impeded by a developing staff shortage in the province and pressure on the health service from the existing HIV/AIDS and TB epidemics. This situation underscores the need for health needs assessment for developing services for the care and prevention of congenital disorders in middle- and low-income countries. However, these impediments stimulated the pioneering of innovate ways to offer medical genetic services in these circumstances, including tele-teaching of nurses and doctors, using cellular phones to enhance clinical care and adapting and assessing the clinical utility of a laboratory test, QF-PCR, for use in the local circumstances.

Assuring Quality When Establishing Medical Genetic Services in Middle- and Low-Income Nations

• Quality assurance encompasses all actions taken to establish, protect, promote and improve the quality of health care.