Welcome to Human Genetics
- Beth Amato - FHS Communications
The Human Genetics Division in the Wits School of Pathology provides the largest diagnostic and clinical services to South African private and public hospitals.The division is a joint initiative with the National Health Laboratory Services. The division's research interests cover the entire scope of human genetics: clinical genetics, genetic counselling, monogenic disorders, non-communicable diseases, microbiome and population genetics.
Human Genetics has a vibrant training mandate and offers academic?programmes to undergraduate and postgraduate students in health sciences (Honours, MSc, PhD, genetic counsellors, and medical registrars).?
"Today, human genetics is for everyone. It is about our variation?and about our illnesses, and about the common as well as the rare. Once an obscure science or an explanation for an odd collection of symptoms, human genetics is now part of everyday conversation. At the same time, it is finally being recognised as the basis of medical science, and health care professionals must be fluent in the field's language and concepts." - Ricki Lewis
Figure 1: Professor Amanda Krause, Head of the Division of Human Genetics in the Wits School of Pathology
Professor Amanda Krause, Head of the Division of Human Genetics in the Wits School of Pathology
Professor Krause is a medical geneticist and the Head of the Division of Human Genetics at the National Health Laboratory Services and Wits University. As a medical geneticist, her major role is to assess and counsel patients in genetic clinics with a broad range of genetic conditions. She also supervises the Division's genetics molecular diagnostic service, teaches and trains in medical genetics at both undergraduate and postgraduate levels. Professor Krause conducts research aimed at understanding the molecular basis of genetic disease in South Africa. She has particular interests in Fanconi anaemia, haemoglobinopathies, developmental delays, and spinal muscular atrophy.
African genomic research caters to the most ethnically diverse continent in the world
The field of genomics has the potential to revolutionise healthcare outcomes not just for African populations, but for the world. To realise this potential, it's essential that genomics research be conducted in African populations, with African investigators taking the lead. Africa is home to the most genetically diverse populations in the world, and harnessing this diversity can help us understand physiological adaptation, disease mechanisms, and identify new drug targets.
Figure 2: Fluidics Station based at the National Health Laboratory Services
However, African populations are still underrepresented in genomic studies, which can lead to a compromised quality of care for African patients and constrained public health systems. To address this issue, we need to encourage more investment in African genomics research and development. African clinicians and researchers are now advocating for a more context-specific approach to precision medicine, which individualises diagnosis and treatment for better health outcomes. This is especially important since the genomic profiles that have been well-researched in the Global North cannot be applied to all healthcare contexts.
Figure 3: An Ion GeneStudio machine which is a semiconductor based next generation sequencing system
One promising initiative is Deciphering Developmental Disorders in Africa (DDD-Africa). This multi-faceted research project aims to evaluate the clinical exome sequencing in an African setting, with co-investigators from the Division of Human Genetics' clinical, counselling and scientist teams, as well as collaborators from the Democratic Republic of Congo and the United Kingdom. DDD-Africa seeks to create a framework for research and evidence-based healthcare reform, with a long-term goal of developing an effective and sustainable approach for the integration of whole-exome sequencing in developmental disorder diagnostics. This will enable a precision public health approach for Africa, improving outcomes for affected children and their families, and reducing the healthcare and economic burden of developmental disorders, particularly in low-income countries.