Newborn screening is a remarkable tool that empowers healthcare professionals to identify potential threats before they can impact a new baby’s health. By using a simple heel prick test, doctors can screen for a variety of metabolic and genetic disorders, including but not limited to Classic Galactosaemia, Cystic Fibrosis, Congenital Adrenal Hyperplasia, Primary Congenital Hypothyroidism, and Maple Syrup Urine Disease.
One of the most compelling aspects of newborn screening is its universal approach. Unlike many medical tests targeted based on risk factors, newborn screening is recommended for all babies, regardless of their apparent health. This is because we cannot predict which child may carry a genetic or metabolic disorder. By screening all newborns, we maximise the chances of detecting these conditions, especially in cases where they might not show immediate symptoms.
In an article titled ‘New screening programme planned for cystic fibrosis in South Africa,’ the Daily Maverick discusses the need for universal newborn screening in South Africa. Next Biosciences presently works with North-West University to provide a comprehensive newborn screening test that tests for 24 metabolic and genetic diseases. (including cystic fibrosis). Among these conditions are those for which early dietary interventions can effectively prevent severe cognitive impairments.
Professor Chris Vorster, a distinguished clinical pathologist and the director of the Centre for Human Metabolomics at North-West University, sheds light on the critical importance of newborn screening programmes. He emphasises that these screening efforts must focus on “those conditions that by the time the clinician makes the diagnosis, then typically the damage done is already irreversible.”
One of the obstacles facing clinicians who would like to offer newborn screening is that there is currently no healthcare policy in South Africa regarding newborn screening; therefore, most medical insurance companies do not provide full reimbursement for the cost of the test.
In November 2021, the Department of Health unveiled: "Clinical Guidelines for Genetics Services." These guidelines advocate for “newborn screening for congenital disorders where newborn screening prevents significant and irreversible morbidity and/or mortality.” The document acknowledges that further research is required to ascertain the specific disorders that should be incorporated into the screening program. Foster Mohale, the Department of Health’s spokesperson, has assured that “the department continues to commit to implementing newborn screening in South Africa.”
In the world of healthcare, knowledge truly is power. Most first-world countries have recognised the immense value of newborn screening and have, therefore, made it compulsory. This decision is rooted in the desire to provide each child with the best possible start in life and the economic benefits of preventing long-term health complications that can strain healthcare systems. By implementing newborn screening as a standard practice, countries are investing in healthier populations and reducing the burden of chronic diseases.
The FirstScreen Newborn Screening represents a beacon of hope for families worldwide. By embracing this powerful tool, we can protect our children from the shadows of genetic and metabolic disorders which may threaten their health and future. Early detection through newborn screening enables prompt intervention and treatment, preventing severe complications and even saving lives.