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notably HIV/AIDS. In mid-2022, a group of key South African stakeholders involved in, or enthusiastic
about expanding biochemical NBS, voiced the need for renewed national commitment and an appropriate
plan for the future. Led by RDSA, together with key individuals from NWU, the University of Cape Town
(UCT), NHLS, and several global organisations, a meeting was held from 21-22 February 2023 in Cape
Town. The two-day meeting was collectively funded by the joint NBS Task Force of the International
Federation of Clinical Chemistry and Laboratory Medicine (IFCC), the International Society for Newborn
Screening (ISNS), the South African Inherited Metabolic Disorders Group (SAIMDG), and industry
partners PerkinElmer and Labsystems Diagnostics Oy.

Day 1 was attended by 97 participants (45 in-person, 52 virtually) including clinicians, nurses, medical
scientists, academic researchers, government officials/policy makers, patient advocacy groups, and
international experts. A series of presentations ensured a common understanding of the benefits of
biochemical NBS, its current status, lessons learned from other LMIC (Nigeria and Philippines), testing
capacity, technology and infrastructure requirements, and potential costs and health outcomes of
biochemical NBS.

Day 2 was a closed meeting for key national and provincial policy makers to plan a way forward for
biochemical NBS in SA. Key issues discussed included: biochemical NBS as a component of comprehensive
NBS; the importance of initiating biochemical NBS simply and building on existing programmes to
minimise costs and promote “home-grown” sustainability; learning from experiences of other health
[64]
programmes, such as PMTCT , and ensuring integration of the biochemical NBS pathway, which starts
and ends with the patient, including treatment management for identified individuals.

Identified challenges to biochemical NBS in SA include: early discharge of newborns post-delivery (from 6
hours after birth); technical challenges in optimal sample collection and methodology (cord blood versus
heel prick, appropriate cut-off levels, etc.); high rates of patients lost to follow-up; lack of accountability at
all levels of current practice; inadequate resources allocated (human and financial), and poor logistics for
the biochemical NBS pathway, including communicating test results and accessibility of genetic counselling
for patients.

Recommendations from the two-day meeting included:

1. The establishment of a National Advisory Panel for biochemical NBS in SA.

2. Development, funding, and implementation of a comprehensive demonstration project for biochemical
CH NBS in two provinces in SA (Limpopo and Western Cape Provinces), including all relevant
components of the CH biochemical NBS pathway and an assessment of all expenses. This will be preceded
by a preliminary feasibility study in the two provinces to gather relevant data for the demonstration
project [65,66] .

3. Present project results to NDOH with a proposed action plan for progressive implementation of CH
biochemical NBS in SA.

4. In the interim, provincial health services are encouraged to fully implement NBS recommendations for
hearing/visual assessments, critical CHD screening, and a comprehensive physical examination prior to
[55]
discharge post-delivery .