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Considering how fast today’s society evolves and how complex and sensitive this field is - more frequent
societal consultations are key to understanding whether there is a community consensus.

Governance
The psychological distress and worry around using GS in NBS bring governance and policy consequences
that must be taken into consideration. For example, parental worry could cause follow-up visits, tests, and
[36]
services that may not be medically indicated .
Moreover, when clinicians or other healthcare professionals have the role of returning results to patients,
time management is a concern, since counseling parents and educating them on procedures and next steps
will be time- and energy-consuming and, therefore, costly. It has to be taken into consideration that all
positive screen results will need follow-up care, confirmatory testing, and monitoring, ensuing even more
time and costs to the healthcare system .
[34]

Genetics professionals surveyed by Ulm et al. think that the complexity implied in the use of GS in NBS
should lead to a new counseling paradigm, forcing a non-mandatory program that envisages consent and
32]
the option to opt out in a setting where genetic discrimination is prevented . These changes and challenges
should thus require a new setting and an infrastructure boosting education and training of the workforce
involved .
[35]
On the same line, two papers [9,38] analyzed the US legal framework with respect to the introduction of GS in
NBS programs. Both concluded that the current “constitutional boundaries” do not allow the introduction
of mandatory neonatal screening programs using GS. The first argument is that mandatory screening is
based on two fundamental legal bases:

(1) Police power that allows the state to intervene in order to protect the health and safety of citizens AND

(2) Parens patrie that allows public authority to make decisions in the best interest of the children despite
the opinion of the parents.

Both principles do not seem to be applicable to genomic screening unless it is limited to a strict number of
genes (and variants on those genes) that cause severe but treatable conditions with an almost certain
pediatric onset [9,38,39] .

From a health policy perspective, there is a consensus regarding the introduction of GS-based NBS
programs which should not substitute the current conventional NBS programs, meaning that the costs for
[39]
implementing the new program are on top of the existing one with limited overlap . Another important
aspect considered by all the three papers [9,38,39] is equity: despite being subject to consent from the parents,
once introduced, GS-based NBS should be equally accessible to all newborns. An interesting concept linked
with equity concerns is the possibility for the families to have raw data from GS analyzed and interpreted
independently; if families can get access to raw data, some of them, the wealthier and more educated, could
look for deeper analysis and interpretation even for a portion of the genome not included in the NBS
program. Is that ethical? Is that fair, considering that other families will not have that possibility? [9]

LIMITATIONS
The rapid evolution of the field and the increasing number of pilot programs using GS for NBS make it
difficult to give a snapshot without the risk of missing the most recently published evidence. To make an