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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 15 of 19

In addition to ensuring universal access to screening and treatments, other key equity aspects related to
gNBS include recognition of the sovereignty of Indigenous Australians’ genomic data, increasing the
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representation of our diverse populations in the genetic databases used in screening , and developing a
clear and transparent process for prioritising which conditions are considered for inclusion in NBS
programs. If a condition is not prevalent in all population groups, it is important to design screening to
actively mitigate against identifying and reporting false negative results.

CONCLUSION
NBS programs in Australia have been a central component of the country’s ability to effectively diagnose
and facilitate effective therapeutic interventions to generations of children with often rare conditions,
unifying healthcare delivery across a heterogenous and widely dispersed population. The changing
environment and unmet needs of people and families living with rare conditions are driving active
discourses on the principles of screening through a modern lens, serving to navigate the opportunities and
challenges of genomic technologies in expanding NBS programs. These steps will support the future
collaborative development of Australian NBS programs in line with innovation, being both person- and
family-centred and informed by cumulative local and international knowledge and evidence. Poised on the
precipice of a genomic revolution, NBS in Australia has the capability to expand health benefits to broader
populations; however, a coordinated, national approach and prospective evaluation of outcomes and
processes are essential so that NBS can safely, equitably, and effectively adapt for the future, evolving to
meet the changing needs of the populations it serves .
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DECLARATIONS
Authors’ contributions
Formulated the concept of the manuscript: Ji C, Farrar MA, Kariyawasam DS, Norris S, Ji C, Farrar MA.
Contributed to the first and subsequent drafts: Kariyawasam DS, Norris S, Newson AJ, Bhattacharya K,
Bennetts B
Contributed to multiple critical revisions: Ji C, Farrar MA, Norris S, Bhattacharya K, Bennetts B, Newson
AJ, Healy L, Millis N, Kariyawasam DS

Availability of data and materials
Not applicable.

Financial support and sponsorship
Farrar MA, Bhattacharya K and Bennetts B are recipients of grant support from the Medical Research
Futures (fund GNT2017165), “newborn gen seq trail: newborn genomicsequencing in screening: therapy
ready and information for life”; Norris S, Newson AJ, and Kariyawasam DS are recipients of grant support
from the Medical Research Futures (fund MRF2015965), “gEnomics4newborns: integrating Ethics and
Equity with Effectiveness and Economics for genomic newborn screening”; Newson AJ is the recipient of
grant support from the Medical Research Futures (fund MRF2015531), “Ethical governance of clinical and
genomic datasets, now known as the LINEAGE Project”.

Conflicts of interest
All authors declared that there are no conflicts of interest.