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Page 12 of 19 Ji et al. Rare Dis Orphan Drugs J 2023;2:26 https://dx.doi.org/10.20517/rdodj.2023.30

Potential risks and enablers of maintaining public trust
The erosion of existing high public trust in NBS is a potential risk to its expansion through the addition of
conditions (either through standard or novel technologies) and should be actively considered in service
planning and implementation. One such risk to be mitigated is the receipt of uncertain or unactionable
information following NBS. Some studies show a high tolerance of uncertainty, for example, in a study of
exome sequencing in babies with congenital deafness, where parents reported low levels of decisional regret
in participating in NBS for conditions with childhood onset . However, studies of population screening
[73]
found that receiving uncertain results in NBS is often experienced in the same way as receiving a full genetic
diagnosis and that there were significant emotional and behavioural sequelae for families . Further, parents
[77]
of children who receive uncertain results for conditions such as cystic fibrosis (CF) find themselves as
“genetic nomads” - identifying with neither the “CF world” nor with parents of healthy children . These
[78]
potential risks of gNBS need to be planned for, and care delivery should include communication and
adaptation strategies for receipt of uncertain results. Ensuring access to ongoing research, care and
surveillance in gNBS will also be imperative if its benefits to newborns are to be realised.

High public trust in these programs will be facilitated with governance around data storage to maintain data
confidentiality and integrity. Future forms of NBS will require a robust data management strategy to ensure
the privacy of generated data, particularly as studies have identified concerns around the safe storage of
screening results [16,79] .

Public engagement will also require consideration and the implementation of measures aimed at
safeguarding against potential discrimination following early genetic diagnoses facilitated by expanded NBS.
Early genetic diagnoses may impact eligibility or premium prices for personal risk-rated insurance products,
such as income protection and life insurance, which typically rely on an individual’s specific risk factors.
There is currently an industry moratorium in place in Australia which limits the use of genetic information
[80]
when determining individual risk . It remains uncertain as to whether and how expanding NBS will
impact the insurance discrimination landscape, although this concern (especially in relation to expanding
NBS, or adding specific new conditions) has been previously raised in other jurisdictions [81,82] . Policymakers
are encouraged to monitor the possible impact of expanded NBS on access to personal risk-rated products
in Australia and to ensure clear communication with families.

Finally, cultural context needs to be actively planned in any expansion of NBS. Cultural background is
known to shape decisions regarding whether parents seek additional genomic information in the context of
clinical care [73,83] , and this may also be reflected in NBS. If gNBS is to be offered to the highly heterogeneous
population of Australia, there must be a balance between providing culturally sensitive, individualized
support to enable effective decision making about NBS and the need to provide a standard test offered at
population scale . Further research is also warranted to understand the potential for stigmatisation, which
[73]
in part has led to the poor uptake of NBS for haemoglobinopathies in specific ethnic groups .
[84]
Policy consideration for Australian newborn bloodspot screening programs: the continuing
evolution of assessment methods and processes
The approach used by Australia to assess conditions for inclusion in (and potentially removal from) NBS
programs continues to evolve [Figure 3]. Recently, a formal step of health technology assessment (HTA) has
been added to the pathway for considering new conditions, with a requirement for assessment by the
Medical Services Advisory Committee (MSAC). This is an independent non-statutory committee to provide
recommendations on public reimbursement of technologies and services other than pharmaceuticals .
[85]
MSAC has well-established approaches for assessing the value of screening and diagnostic tests, which rely
on internationally accepted methods for determining safety, effectiveness, cost-effectiveness, and budgetary
impact, as well as the ethical, legal, and social implications of a technology .
[86]