Page 21 - Read Online

Page 4 of 19 Ji et al. Rare Dis Orphan Drugs J 2023;2:26 https://dx.doi.org/10.20517/rdodj.2023.30

Funding for healthcare in Australia is derived from a mix of public and private sources, with the majority
[24]
(70.6%) of healthcare funded by the government . While all formal population screening programs in
Australia, including NBS programs, are publicly funded with no out-of-pocket costs for the screened
individual, pathways to care for screen-positive individuals are highly variable depending on their
knowledge of and access to public and/or private health services. Variable access to health services is a
common challenge in Australia and arises as a consequence of the relatively small population (25.7 million)
spread across a large geographical area (7.7 million km ) with wide diversity in health literacy, socio-
2
[25]
economic circumstances, language, and cultural perspectives . On rare occasions, these challenges give rise
to missed screening opportunities, such as for some babies born at home, in remote/regional areas, families
[26]
with sporadic antenatal care, or mothers who normally reside in other states . A very small proportion of
parents decline screening for their babies. More frequently, though, challenges with accessing appropriate
care are apparent in referral pathways for newborns and children diagnosed with rare conditions, as
specialist services required for care tend to be in a limited number of major metropolitan centres [27,28] . Access
to follow-up care is one of the key equity challenges for Australia as we consider how to expand existing
NBS programs.

The drivers of newborn bloodspot screening policy change in Australia
Prior to 2018, individual states and territories in Australia determined their own screening targets, leading
to differences between jurisdictions in the conditions screened. From the 1980s, the five screening
laboratories in Australia voluntarily governed themselves through a joint committee of The Royal
Australasian College of Physicians and the Human Genetics Society of Australasia (HGSA). As new
technologies became available and inequities between programs arose both in the form of conditions
screened and access to specialist care and support, it became increasingly clear that broader community
engagement and a national approach were required. In response, the HGSA sought guidance from the
federal government and an expert working group was formed to develop a cohesive NBS framework as a
step toward a standardised approach to NBS nationally, with the federal government launching the
[7]
Newborn Bloodspot Screening: National Policy Framework in 2018 . The Framework provided a series of
considerations to defer to when jurisdictions were determining whether to add, or remove, a condition for
screening. For the first time, it allowed a mechanism for harmonising processes for managing identified
children, program monitoring and evaluation, consent, storage oversight, and evidence-based program
expansion (or reduction, as appropriate) [7,29] .

However, it should be noted that at the time the Framework was developed, no additional funds were
allocated by the government to support the assessment of new conditions or implementation of expanded
screening. Since then, in response to patient advocacy around remaining inequities in access to screening,
the Australian government formally launched the Newborn Screening Infrastructure in late 2022, with a
monetary commitment of $AU 39.4 million over four financial years. The purpose of this investment is to
enable the delivery of an optimised, equitable, and integrated screening program, including the
implementation of regular processes to update, synchronise, and expand (or remove) screened conditions in
[30]
line with international best practices . The nationally coordinated approach will also support increased
funding for treatment pathways for actionable rare conditions identified through NBS . Although this
[31]
support has been welcomed by the sector, further refinements to the assessment pathway for NBS
conditions are still required, especially against the backdrop of wider use of gNBS, and questions remain
regarding ongoing funding beyond the current commitment.