RESUMO
Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a successful tool for the early diagnosis of genetic conditions, however, its utility in African infant populations has not been investigated. The impact of the under-representation of African genomic data, the cost of testing, and genomic workforce shortages, need to be investigated and evidence-based implementation strategies accounting for locally available genetics expertise and diagnostic infrastructure need to be developed. We evaluated the diagnostic utility of singleton CES in a cohort of 32 ill, South African infants from two State hospitals in Johannesburg, South Africa. We analysed the data using a series of filtering approaches, including a curated virtual gene panel consisting of genes implicated in neonatal-and early childhood-onset conditions and genes with known founder and common variants in African populations. We reported a diagnostic yield of 22% and identified seven pathogenic variants in the NPHS1, COL2A1, OCRL, SHOC2, TPRV4, MTM1 and STAC3 genes. This study demonstrates the utility value of CES in the South African State healthcare setting, providing a diagnosis to patients who would otherwise not receive one and allowing for directed management. We anticipate an increase in the diagnostic yield of our workflow with further refinement of the study inclusion criteria. This study highlights important considerations for the implementation of genomic medicine in under-resourced settings and in under-represented African populations where variant interpretation remains a challenge.
RESUMO
BACKGROUND: Surgical management of burn injuries is within the scope of practice of general surgeons in most low- and middle-income countries (LMICs), like South Africa. This study aims to assess the teaching, knowledge and resource availability to perform basic surgical procedures for burn injuries amongst surgical trainees in KwaZulu-Natal. METHODS: The study design is an observational descriptive cross-sectional study using quantitative questionnaires, including registrars in the Department of Surgery at the University of KwaZulu-Natal. RESULTS: There was a response rate of 57%. The hospitals have been grouped into regions of coastal, western and northern to reflect the three areas where surgical registrars receive their training. There was a large range of clinical and surgical skill teaching between regions. Equipment and operating time availability is more available in the west and north than in the coastal regions, which is reflected in the reported practical experience. Acute indications for surgery were better understood than those for chronic burns. CONCLUSION: The surgical capacity in general surgery in KwaZulu-Natal to meet the burden of injury for burns is deficient. While some theoretical knowledge exists, the practical component is insufficient, which could be due to a lack of equipment and training. In order to address the burden of burn injury in KwaZulu-Natal, a provincial plan needs to be developed. Access to equipment and theatre should be prioritised and practical skills training should be developed with reinforcement of theoretical knowledge as part of a training strategy for general surgical registrars.
