Newborn Screening: Genetic and metabolic disease diagnoses in South Africa

By Next Biosciences

21 September 2023

Next Biosciences partners with North-West University to offer FirstScreen Newborn Screening 24-72 hours after a baby’s birth. The test screens for 24 metabolic and genetic diseases that can progress rapidly to severe illness if not detected early and treatment started. Severe complications, such as brain damage and possibly even death, can be prevented by this simple test. In this blog post, we will delve into the landscape of genetic and metabolic disease diagnoses in South Africa, highlighting key conditions, prevalence rates, and the role of ethnicity in susceptibility. 

48 Diagnoses: A glimpse into genetic complexity

Since 2016, Next Biosciences and North-West University have done 25 572 tests. There have been 48 diagnoses spanning a diverse range of symptoms and severity levels. As technology continues to evolve, the medical community gains the ability to detect and understand genetic conditions more comprehensively, leading to improved patient outcomes and treatment strategies.

Galactosaemia: An in-depth look

One of the most diagnosed metabolic and genetic diseases in South Africa since 2016 is galactosaemia, with its various clinical variants including Clinical Variant Galactosaemia and Duarte Variant Galactosaemia. Galactosaemia is a rare metabolic disorder that affects the body's ability to metabolise galactose, a sugar found in milk and other dairy products. Classic galactosemia is a particularly severe form of this condition, occurring in approximately 1 in every 30 000 to 60 000 newborns. This condition can lead to various health issues, making early diagnosis crucial for effective management.

Source: Classic Galactosemia

Prevalence and the hidden count

It is estimated that around 1 in 2 500 babies is born with a metabolic disease. However, this statistic does not account for individuals whose disorders are yet to be diagnosed. These hidden cases emphasise the need for increased awareness, improved genetic screening, and better access to diagnostic tools, ensuring that those affected receive timely and appropriate care.


Cystic fibrosis: Unmasking a common genetic disorder

Cystic fibrosis (CF) is among the most common genetic disorders that can be inherited from parents. While it is widespread in many parts of the world, South Africa has observed a relatively lower prevalence, with fewer than 600 reported cases. CF primarily affects the respiratory and digestive systems, leading to various symptoms, including a persistent cough, respiratory infections, and digestive issues. Genetic testing and early intervention are pivotal in managing the condition effectively.

Source: In-depth: New screening programme planned for cystic fibrosis in SA

Newborn Screening in South Africa vs other developing countries 

One of the most common constraints to the implementation of a newborn screening programme in South Africa, is the perception that the programme will at a huge expense and will divert funds from competing health priorities such as screening for HIV, breast cancer, prostate cancer, and hypercholesterolemia. The economic benefit of screening a baby at birth will only be realised over an extended period. 

When compared to developing countries, <1% of the population has been screened in South Africa. Here is a list of other countries for comparison purposes:

  • Egypt - 95%
  • Iran - 85%
  • China - 40%
  • Malaysia - >95%
  • Philippines - 30%
  • Brazil - >80%

Source: FirstScreen - A case for Newborn Screening in South Africa. A personal view from Dr Chris Vorster, Chemical Pathologist and Head: Centre for Human Metabolomics, North-West University. 

The genetic landscape of South Africa offers a glimpse into the remarkable progress made in the field of medical genetics. The diagnoses of various genetic conditions, including the notable instances of galactosaemia and cystic fibrosis, highlight the importance of early detection and tailored interventions. As technology evolves and our understanding of genetics deepens, the potential for improved diagnosis, management, and treatment of genetic disorders becomes even more promising. Through continued research, awareness, and collaboration, we can pave the way for a healthier future for individuals affected by these conditions.