Genetic counseling in South Africa: A growing profession.

The Genetic Counseling profession in South Africa (SA) was established 35 years ago when the first degree program was initiated at the University of the Witwatersrand in 1989. A second program was developed at the University of Cape Town in 2004. This article aims to describe the development of the profession in SA, with a focus on the last decade.

Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.

Purpose: The aim of this systematic review was to investigate the available data on the epidemiology of oculocutaneous albinism (OCA) around the world, and to determine whether a generalizable, worldwide prevalence figure could be proposed.

Methods: Extensive literature search strategies were conducted, interrogating PubMed, Scopus, and Web of Science, to locate relevant literature. Ultimately 34 studies reporting original data were included for analysis.

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition.

Fanconi anaemia in South Africa: Past, present and future.

Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA.

Knowledge regarding basic concepts of hereditary cancers, and the available genetic counselling and testing services: A survey of general practitioners in Johannesburg, South Africa.

Background: In families with hereditary cancer, at-risk individuals can benefit from genetic counselling and testing. General practitioners (GPs) are ideally placed to identify such families and refer them appropriately.

Objective: To assess the practices, knowledge and attitudes of GPs regarding common hereditary cancers.