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Page 6 of 11 Malherbe et al. Rare Dis Orphan Drugs J 2024;3:7 https://dx.doi.org/10.20517/rdodj.2023.49

(MMH), New Somerset Hospital (NSH) and six MOUs. The PMNS was initiated in 1987 and has
subsequently been disbanded and subdivided into three regions] in Cape Town was undertaken for the
[54]
period January 2000-December 2004 . Of the 140,507 neonates screened using cord blood, 13 CH cases
were confirmed, at an average review age of 62 days. A crude costing indicated a cost of ZAR22 per CH
screening or ZAR221,552.96 per detected case (equivalent to US$3.89 and US$39,213 in 2004 using historic
ZAR:US$ exchange rates), but the study did not include comparable associated lifetime cost of care for
undetected cases [54]

Current status of NBS in South Africa
NBS is considered a component of community genetic services in SA, as indicated in the 2021 Clinical
[55]
Guidelines for Genetic Services published by the National Department of Health (NDOH) . These
Guidelines provide for NBS, specifying that “All newborns must have a postnatal examination (three to six
[55]
days postnatal) to identify CDs missed at birth or discharge” . It lists considerations, including hearing and
vision assessments, checking of oxygen saturations within 24 h of birth, growth and development, and
potential false positive/negative assessment at birth. Biochemical NBS is included as a “progression” of
broader NBS, important for all newborns when it prevents significant, irreversible morbidity and/or
mortality. Neonates screening positive should be referred for diagnostic confirmation, genetic counselling,
and management. The Clinical Guidelines also recommend further studies to determine which conditions
should be included in the biochemical NBS programme and indicate that an initial minimum panel should
include CH, CAH, CF, galactosaemia (due to GALT deficiency), glutaric aciduria type 1, and propionic
acidaemia .
[55]

While the current guidelines provide for biochemical NBS, the implementation thereof and adherence to
previous guidelines have been limited, and to date, no progress reports have been issued [56-61] .

NBS in the private sector
[26]
In the private health sector of SA , biochemical NBS is led by NWU, implementing a panel of 22
conditions and providing services to private laboratories countrywide. Samples are taken via a minimally
invasive heel prick of the newborn between 1 and 7 days after birth/before discharge. Next Biosciences, a
private laboratory in SA, assists with the follow-up of abnormal screening results, including patient support
and counselling, timely and relevant secondary testing, and precise sampling.

The recent establishment of the CHM Biobank for rare diseases at NWU will further underpin biochemical
NBS efforts, providing a legal framework and infrastructure for the long-term storage of samples and an
accompanying registry for secure data storage [62,63] . A patient-initiated rare disease registry is under
development by Rare Diseases South Africa (RDSA), a patient-based advocacy Non-Profit Organisation, in
collaboration with the NWU Biobank.

NBS in the state sector
In the state sector, biochemical NBS for CH is available using cord blood at birth at a number of facilities in
the Western Cape (formerly the PMNS), screening an estimated 38,000 or 3.8% of total births annually
(H. Vreede, Personal Communication) . While this project was initially facilitated via the Red Cross War
[54]
Memorial Children’s Hospital, the National Health Laboratory Service (NHLS) is now supporting this
project in the interim, while long-term continuity and expansion of the project are considered.

NBS for South Africa meeting, Cape Town, February 2023
Following the previous biochemical NBS meetings held in SA in 1987 and 1992 [46,48] , momentum was lost
during subsequent decades due to the necessary response required for other healthcare priorities, most