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treatments, with dedicated protocols for assessing “co-dependent” technologies, recognising local
expectations that conditions with a publicly funded treatment should have a publicly funded test .
[90]
However, it is unclear how funding decisions for treatments for conditions being considered for NBS will be
coordinated with decisions to screen for those conditions in the first place. Moreover, positive
recommendations for public funding from one of these committees may not translate to universal access to
a treatment due to the very high cost of many innovative treatments for rare conditions. Further, in
Australia, a person’s eligibility to receive a public subsidy for a specific treatment may be restricted to only
include a specific genotype or phenotype. In a practical sense, a person’s access may also be restricted or
impacted because a treatment’s delivery requires access to a highly specialised clinical centre. Decisions
about which conditions to screen for in NBS should be cognisant of this wider funding landscape. An
integrated approach to NBS and research therapeutics has been recommended by a recent parliamentary
enquiry .
[31]
Another Australian policy consideration is that the evolution of the assessment pathways for publicly
funded NBS programs is occurring contemporaneously with the possible public funding of RGCS. An
application for public funding for RGCS was unsuccessful [91,92] , but efforts to secure public funding for
expanded carrier screening are ongoing. Coordination may also be required regarding which conditions
and variants are included in which program.

Ethical, legal and social issues associated with the use of genomics in newborn screening
Appropriately incorporating gNBS raises complex and nuanced questions regarding its ELSI. These arise
against a backdrop of existing ELSI questions in NBS, including avoiding overdiagnosis, defining the
benefits of NBS (including whether reproductive choice is a justified benefit), the scope of conditions it is
appropriate to screen for, whether and how to obtain explicit consent to NBS, and ongoing access to
samples.

ELSI in gNBS is the subject of a rapidly growing literature base [58,60,61,64,65,93-98] . Several of the issues discussed in
this paper have an ethical dimension, too: consent, managing uncertainty, whether to disclose incidental or
unsolicited findings, choosing which conditions to screen, disclosing carrier status, and the possibility of
discrimination. There are additional factors, such as tensions between public health and clinical paradigms
(and the expectations and limitations these give rise to), as well as issues such as what should constitute a
[99]
“benefit” of gNBS . Questions of benefit in gNBS require particular attention, such as whether secondary
benefits to the family justify reporting certain results even when the newborn themselves may not benefit, or
whether to report variants for conditions with X-linked inheritance when these are detected in female
newborns. A further aspect of “benefit” is whether to screen for a condition when only a proportion of
screen-positive newborns (for instance, only those with a particular genotype) will be able to access a
treatment or risk-reducing intervention.

Many of the ethical issues around the use of gNBS are not related to the technology itself, but to the context
in which the technology is being used: population screening of apparently healthy babies. An appropriate
ethical framing in this context is public health ethics, which emphasises public goods, social justice, and
community benefits. On this view, populations are more than aggregates of individuals - the socio-political
context is vital to consider as well. Issues such as population-level harms (e.g., through overdiagnosis),
structural barriers to health, and increasing the individualisation of responsibility for health are all relevant.
Ethical concepts and values such as solidarity, trust (discussed earlier in this paper), and reciprocity are
important to consider alongside more widely explored concepts such as autonomy. Attending to the
nuances that an analysis of these additional concepts draws out will enable a more equitable and appropriate
use of gNBS .
[65]