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

potential for a range of unintended negative consequences. We emphasise the importance of a nationally agreed,
coordinated, and streamlined approach to the addition and removal of conditions from Australian NBS programs,
which considers the utility, cost, ethical, and equity aspects of gNBS.

Keywords: Newborn screening, Australia, expansion, genomic sequencing, ethics

INTRODUCTION
NBS is a public health program that aims to detect newborns with serious, actionable disorders to enable
timely and appropriate interventions and improve health outcomes. In Australia, NBS is a well-established
program, screening for over 50 conditions, and has been offered to all newborns since the 1960s .
[1,2]
Australian NBS is associated with high levels of public trust, with a > 99% uptake rate nationally in 2023,
300,000 newborns screened every year, and approximately 1 in 1,000 babies identified with a rare
[2]
condition that would otherwise have gone undetected until symptoms arose .
The inclusion of specified conditions into routine Australian NBS programs was traditionally informed by
the Population Based Screening Framework , which remains closely aligned with the internationally
[3]
recognised ten screening principles developed by Wilson and Jungner and endorsed by the World Health
Organisation (WHO) in 1968 (Box 1). Prior to 2018, the addition of new conditions into state and
[4]
territory NBS panels was assessed within each jurisdiction's infrastructure. Evaluation of net benefits for
NBS of rare disorders necessitated large pilot studies to accrue sufficient evidence of alignment with
screening principles before endorsement of a condition onto routine NBS panels. This approach led to
variable timing of implementation between health jurisdictions within Australia, resulting in inequity in
[5,6]
access to diagnosis and specialist care . Changes in policy to enable best practice through the development
of a Newborn Screening Policy Framework in 2018 were driven in part by the imperative to mitigate these
inequities .
[7]

Box 1. Original Wilson and Jungner principles for population-based screening

Derived from “Principles and Practice of Screening for Disease” [4]

The condition should be an important health problem
There should be an accepted treatment for patients with the disease
Facilities for diagnosis and treatment should be available
There should be a recognizable latent or early symptomatic stage
There should be a suitable test or examination
The test should be acceptable to the population
The natural history of the condition, including development from latent to declared disease, should be
adequately understood
There should be an agreed policy on whom to treat as patients
The cost of case-finding (including diagnosis and treatment of patients diagnosed) should be economically

balanced in relation to possible expenditure on medical care as a whole
Case-finding should be a continuing process and not a "once and for all" project