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Figure 3. Study flowchart.

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

The second step consisted of reading the abstracts and assigning each article to one of 14 pre-identified
categories grouped in three areas: clinical, social, and governance [see Figure 2]. Reading the abstracts
allowed a stricter selection of articles with a clear focus on the application of Genome Sequencing (GS) to
population-wide NBS, while excluding the publications that used GS as a diagnostic tool. Finally, we
reduced the redundancy based on the article’s topic and publication date (e.g., for articles on the same topic,
the most recent was preferred). After this step, 36 articles were excluded.

The final number of articles retained for the review was 33.

A flowchart of the selection of the articles can be found in Figure 3.

RESULTS
The mixed methods search brought to the identification of 33 articles distributed as in Figure 4.

For the Clinical subject, 14 publications were identified. Five papers were focused on wide GS discussion in
the last 15 years [22-24,7] . Methods to manage the genomic data produced in the GS analysis and a definition of
the clinical actionable conditions have been explored in three publications [2,6,5] . Results and/or discussions
about the impact, feasibility, benefits, and costs of the GS in the clinical care of newborns have been
reported in five publications [14,26-29] .