Prof. Chris Vorster, a chemical pathologist at the North-West University’s Centre for Human Metabolomics (NWU-CHM), has spent over 15 years in clinical diagnostics and metabolic diseases. His experience has led him to strongly advocate for the implementation of a national newborn screening (NBS) program in South Africa—something he sees not as optional, but essential.
Understanding Newborn Screening
Newborn Screening (NBS) is a globally recognised public health intervention that tests infants shortly after birth for serious—often genetic—medical conditions. These disorders are typically undetectable at birth but can lead to irreversible damage, disability, or death if left untreated.
The primary goal of NBS is early diagnosis. With timely intervention, many of these conditions can be managed effectively, resulting in a significantly improved quality of life. Globally, about 140,000 babies are screened daily, and the U.S. Centers for Disease Control and Prevention (CDC) lists NBS among the top ten public health achievements of the 20th century.
Newborn Screening in South Africa
South Africa began its journey with newborn screening in 1967—just four years after phenylketonuria (PKU) screening was introduced in the USA by Dr. Robert Guthrie—through a local pilot program. This was followed by several pilot studies and three national workshops in 1987, 1992, and 2003, which laid the groundwork for further developments.
In 1999, a formal screening initiative was launched at the North-West University Centre for Human Metabolomics (NWU-CHM), supported by the International Atomic Energy Agency.
Initially focused on congenital hypothyroidism, the program later incorporated tandem mass spectrometry (MS/MS), allowing for simultaneous detection of multiple metabolic disorders.
Despite these advancements, South Africa still lacks a nationally coordinated newborn screening program.
The Gap Between Policy and Practice
Although the 2021 Human Genetics Policy Guidelines recommend that all newborns undergo biochemical screening, implementation remains the responsibility of individual provinces—none of which have launched such programs to date. This disconnect between policy and practice remains a significant obstacle.
From 2009 to 2024, the NWU-CHM (hosts of the National Metabolomics Platform) screened 52,000 newborns and detected 76 cases, yielding an incidence rate of approximately 1 in 700. While this figure is higher than global averages—partly due to targeted screening of high-risk cases—it nonetheless underscores the importance and impact of newborn screening in the South African context.
The Case for National Implementation
South Africa is at a turning point. While infectious diseases remain a concern, they now account for a shrinking share of neonatal and infant mortality. As those numbers decline, genetic and congenital disorders are becoming increasingly prominent causes of death and disability in infants.
Without a comprehensive congenital and genetic health strategy—including NBS—further reductions in child mortality will be difficult to achieve.
Current estimates suggest that rare diseases affect more than 1 in 100 newborns. Even a modest program screening for just a dozen conditions could transform hundreds of lives. Prof. Vorster estimates that if all one million annual births in South Africa were screened, approximately 500 affected infants could be identified and treated each year.
The Cost of Inaction
Many medical schemes in South Africa do not cover NBS as a core benefit, requiring payment—if permitted—from the member’s Medical Savings Account (MSA). However, a few schemes do fund NBS from the risk pool, depending on their benefit design. It’s important for members to review their medical scheme policies to understand exactly what is covered and how NBS is funded.
But the greater cost lies in delayed diagnosis. When treatable conditions go undetected, children may require long-term care—placing a profound financial and emotional burden on families and the healthcare system. Early detection not only improves health outcomes but is also significantly more cost-effective over time. Diagnosing and treating conditions identified through NBS is widely recognized as a cost-effective public health measure.
According to WHO-CHOICE criteria, for instance, screening for congenital hypothyroidism is classified as highly cost-effective—underscoring the value of early intervention in reducing long-term costs and improving patient outcomes.
Looking Ahead
A pilot project is currently being planned in the North West Province to demonstrate feasibility and effectiveness, with the aim of paving the way for national rollout. However, challenges remain—particularly around early hospital discharge and ensuring recall for follow-up testing.
Public awareness, professional training, and policy alignment are now more crucial than ever. As treatment options expand and global best practices evolve, South Africa has both the opportunity and the responsibility to act.
NBS is not just a medical test—it’s a lifeline. With infrastructure and expertise already in place, South Africa is well-positioned to implement a national program that could save hundreds of lives each year.
