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Page 4 of 8 Malherbe et al. Rare Dis Orphan Drugs J 2024;3:24 https://dx.doi.org/10.20517/rdodj.2024.11

metabolism (IEM). However, implementation of these guidelines remains fragmented. NBS is currently
only available to a few South Africans (< 0.5% of million annual births) across both the state healthcare
sector, which serves 86% of the South African population, and the private healthcare sector, which serves
[16]
the remaining 14%) . This includes either out-of-pocket NBS for a panel of conditions privately or CH
NBS at a limited number of state facilities in the Western Cape . To implement these provisions
[17]
countrywide for the population served by the state served portion of the population requires, state funding
is required.

Founded in 2013, Rare Diseases South Africa (RDSA) is an NPO dedicated to increasing recognition and
support for people living with PLWRD and congenital disorders. Its mission is to enhance health services
and overall quality of life for these individuals. RDSA has successfully launched initiatives that have
positively impacted the lives of over 6,000 patients, engaging with governmental departments, organs of
state, industry and strategic stakeholders to raise awareness and to improve policy implementation. In
February 2023, RDSA held a two-day NBS event involving key decision-makers (national/provincial
Departments of Health (DOH) and other global and local stakeholders involved with NBS or keen to
expand these services. A key outcome of this event is a planned pilot project to demonstrate the benefits,
costs, outcomes, technical and capacity requirements of expanding CH NBS countrywide . The National
[17]
DOH supports this approach and the demonstration project proposal for two provinces is under
development for funding. Discussions are underway on how to best use existing infrastructure, including
[17]
HIV programs, particularly those involving blood samples taken at birth, to expand NBS in South Africa .
This initial project will be completed by the end of 2025 and will provide key information to decision-
makers to consider expanding CH NBS services in the country .
[17]

Asia Pacific alliance of rare disease organizations
The populations affected by rare diseases in the Asia-Pacific region face exacerbated challenges due to a lack
[18]
of awareness and limited capacity for screening, diagnosis, and care . The Asia Pacific Alliance of Rare
Disease Organizations serves as the regional advocacy body, comprising national and regional POs as
[19]
members . Bloodspot NBS practices vary across the region both in terms of the number of conditions
screened and the level of coverage. For example, the expanded NBS program in Thailand covers 40
conditions, while the program in Japan includes 20 conditions [5,7,20,21] . In India, less than 4% of > 25 million
[22]
newborns annually are screened for a limited number of conditions , while in the Philippines, 94.6% of
[23]
newborns are screened for 29 conditions . Relatively lower levels of education and health literacy among
[24]
parents add to the challenges of successful NBS programs . Nevertheless, while mature and impactful rare
disease POs are relatively limited in the region, often compounded by the prevalent culture of patriarchal
health systems, a number of organizations, along with dedicated healthcare professionals, have made
significant strides by collaborating with national health agencies to advocate for NBS [25-27] .

While Taiwan’s NBS covers 21 conditions, the Taiwan Foundation of Rare Disorders has helped expand and
subsidize screening for the region’s indigenous populations . Rare Voices Australia has similarly supported
[28]
both the call for and advised on a mechanism for the funding of a national approach to review screened
conditions as part of their national strategic action plan for rare diseases [26,29] . However, screening panels are
often limited to conditions for which treatment is available. Despite their success, initiatives often fail to
scale up due to a lack of follow-up intervention and care plans.

In the absence of health coverage for screening and follow-up care, NBS programs in the region remain
dependent on a country’s political will and commitment to universal health coverage (UHC). Funding
mechanisms and follow-up care are largely dependent on individual government buy-in. Countries that