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Page 6 of 15 Magnifico et al. Rare Dis Orphan Drugs J 2023;2:16 https://dx.doi.org/10.20517/rdodj.2023.17

Figure 4. Distribution of the selected articles in the studied areas.

For the Governance subject, three publications were identified [9,38,39] . Two [9,38] have a legal focus, analyzing
[39]
the constitutional framework for the adoption of GS-based NBS programs in the US. The third paper has
a policy perspective and lists eight recommendations for the introduction of GS in NBS. These
recommendations were elaborated by the Pediatric Task Team of the Global Alliance for Genomics and
Health.

Clinical
Wilson and Jungner originally defined the screening criteria to guide the selection of conditions that would
have been suitable for screening. Among these criteria, early-stage detectability and treatment availability
are still solidly respected. However, the advent of the genomic era with advanced medical technologies and
the increased interest in genome screening requested a revision of Wilson and Jungner screening criteria .
[7]
Certainly, the screening criteria should be further and constantly discussed to reflect people’s evolving
interests and needs.

The clinical utility of genetic testing and the efforts to guarantee transparency and quality of the results have
been widely discussed in Europe and the USA. The Public and Professional Policy Committee (PPPC) and
the Quality Committee of the European Society of Human Genetics (ESHG) addressed these challenges in
[24]
the past years, and the final recommendations were approved and published in December 2012 . Whole-
genome analysis might be applied in several circumstances, such as diagnosis in symptomatic patients,
research, pharmacogenomics, investigation in pre-symptomatic patients, and population screening
programs. In order to develop best practices in implementing WGS/WES into health care:

(1) Stakeholders from different fields should participate in the discussions about WGS/WES
implementations, sharing their experience and contributing to the development of national and
international guidelines;

(2) A targeted approach should be adopted to avoid unsolicited findings, e.g., known genetic variants with
limited or no clinical utility;

(3) WGS/WES analysis should be applied when necessary, ensuring a balance of benefits and limitations for
the patient. Genetic experts should explain the benefits and limitations of genetic testing for screening,
informing prospective parents and raising public awareness;

(4) A protocol is essential to guide the communication of secondary findings and report how the data will
be shared and stored;