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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 13 of 19

[2]
Figure 3. Fifty-five years of Australian newborn bloodspot screening . This figure shows the evolution of technology and conditions
screened within Australian NBS programs and key governance milestones pertaining to the stewardship of NBS programs. *Timing of the
introduction of conditions screened varied between states and territories of Australia; the earliest date is indicated. RACP: Royal
Australasian College of Physicians; HGSA: Human Genetics Society of Australasia; NBS: newborn bloodspot screening; NSAPRD:
National Strategic Action Plan for Rare Diseases; MRFF: Medical Research Future Fund; HTA: health technology assessment; MSAC:
Medical Services Advisory Committee; WES: whole exome sequencing; WGS: whole genome sequencing.

However, applying “standard” HTA methods in the context of NBS and in screening generally can be
challenging. More specifically, this is due to the rarity of screened conditions (and associated issues with
generating sufficient evidence), the complexity of testing and care, the broader impacts on family members,
and the specific ethical, legal and social issues (ELSI) associated with the use of genetics or genomics to
screen otherwise apparently healthy newborns [87,88] . In Australia, there are substantial data gaps pertaining
to, for example, stakeholder perspectives regarding consent models, whether to report carrier status and/or
adult-onset conditions, how to manage incidental/unsolicited findings, if/when to include conditions with
incomplete penetrance or variable expressivity, and whether genomics should be used as a first-line
test [25,58,59] .

Harnessing the opportunities offered by advances in precision medicine and gNBS of a vast range of rare
conditions requires substantial policy change with the incorporation of different approaches to generate
evidence-based funding decisions . Considerations include whether investment aligns with value-based
[31]
health care and is sustainable, cost-effective, and socially and ethically acceptable to stakeholders.

Assessing cost-effectiveness is critical for a predominantly publicly funded screening model. This will
require a comprehensive understanding of the downstream consequences for screened newborns. Potential
adverse effects and expenses related to the NBS program, including novel testing modalities, follow-up care,
and psychosocial impacts, must be counterbalanced against test performance and effectiveness of
subsequent care. Indeed, scholars globally have called for a proportionate and nuanced approach to the
introduction of genomics in NBS [60,89] .

In Australia, any assessment of treatments for public reimbursement is undertaken by MSAC, the
Pharmaceutical Benefits Advisory Committee (PBAC), or the Life Saving Drugs Program Expert Panel
(LSDPEP). There is active coordination of public funding decisions by MSAC and PBAC for tests and