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Ji et al. Rare Dis Orphan Drugs J 2023;2:26 https://dx.doi.org/10.20517/rdodj.2023.30 Page 3 of 19

On the technology front, rapid advances in genomic sequencing capabilities and gene- and RNA- based
treatments are driving the emergence of new opportunities and challenges for Australian NBS programs.
The ability to perform DNA extraction on dried blood spots (DBS) at scale has facilitated the incorporation
of first-tier genetic screening tests for conditions such as spinal muscular atrophy (SMA), with Australia one
of only nine countries globally to recommend the inclusion of SMA in NBS programs . The opportunity to
[8]
change the disease course of these predominantly serious, childhood-onset conditions through earlier
diagnosis and treatment, ameliorating the substantial health burden on affected individuals, families, and
health systems, has been cited as a potential benefit of an expanded NBS program [9-12] .

Beyond single gene tests, a range of new modalities for NBS are emerging within the research domain and
being evaluated as either complementary or adjunctive to existing NBS pathways.

These include the capacity to incorporate next-generation genomic sequencing techniques, including whole
exome (WES) and genome sequencing (WGS) , methylation studies for imprinting disorders , and
[14]
[13]
metabolomic biomarkers for profiling of people who are at increased risk of serious and actionable
disorders .
[15]
These emerging screening opportunities also underpin interest among stakeholders to expand NBS to
include conditions or genetic variants that do not necessarily fulfil the traditional principles of newborn
population screening, such as conditions with an older age of onset or the use of genomic profiles to predict
future risks of a condition [16-18] . However, if we are to utilise gNBS in a way that is equitable, effective, cost-
effective, and ethically informed, we need to ask not only “can we use genomics to screen newborns”? but
also: “should we use genomics to screen newborns” and “what are we as a society prepared to pay
for that screening”? These questions are important when considered in the context of an existing
effective screening program with a high level of uptake and public trust.

Within this context, this paper provides an overview of the evolution, current state, and outlook for NBS
programs in Australia. Considering the incorporation of genomic technologies within existing NBS, we also
explore ways in which the current Australian NBS National Policy Framework may need to evolve and
adapt if it is to account for the full range of primary and secondary benefits associated with the early
treatment of a much higher number of rare and ultra-rare conditions [19-22] .

NEWBORN BLOODSPOT SCREENING ORGANISATION AND COORDINATION IN
AUSTRALIA
The organisation of NBS programs in Australia reflects the country’s federated system of government, with
eight jurisdictional governments (representing 6 States and 10 Territories) and a national Commonwealth
government. As health is a devolved power in Australia’s constitution, the implementation of NBS
programs is the responsibility of the state and territory governments.

There are 5 Australian NBS reference centres (located in Adelaide, Brisbane, Melbourne, Perth, and Sydney)
providing coordination of NBS programs . These laboratories screen DBSs collected onto filter paper,
[23]
taken from the newborn’s heel ideally 48-72 h from birth. Each DBS contains three unique patient
identifiers and a named paediatrician for contact. The consent process for the collection of DBSs typically
includes a verbal description of the test and its benefits, a pamphlet, and, in some jurisdictions, a guide to a
web-based resource. The Australian NBS program is not mandatory, and parents can opt out of the
screening test .
[2]