Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey Article Swipe
Mario Cesare Nurchis
,
Gian Marco Raspolini
,
Aurora Heidar Alizadeh
,
Gerardo Altamura
,
Francesca Clementina Radio
,
Marco Tartaglia
,
Bruno Dallapiccola
,
Gianfranco Damiani
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/jpm13060899
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/jpm13060899
This study explores the organizational aspects of whole genome sequencing (WGS) implementation for pediatric patients with suspected genetic disorders in Italy, comparing it with whole exome sequencing (WES). Health professionals’ opinions were collected through an internet-based survey and analyzed using a qualitative summative content analysis methodology. Among the 16 respondents, most were clinical geneticists performing only WES, while 5 also used WGS. The key differences identified include higher needs for analyzing genome rearrangements following WES, greater data storage and security requirements for WGS, and WGS only being performed in specific research studies. No difference was detected in centralization and decentralization issues. The main cost factors included genetic consultations, library preparation and sequencing, bioinformatic analysis, interpretation and confirmation, data storage, and complementary diagnostic investigations. Both WES and WGS decreased the need for additional diagnostic analyses when not used as last-resort tests. Organizational aspects were similar for WGS and WES, but economic evidence gaps may exist for WGS in clinical settings. As sequencing costs decline, WGS will likely replace WES and traditional genetic testing. Tailored genomic policies and cost-effectiveness analyses are needed for WGS implementation in health systems. WGS shows promise for enhancing genetics knowledge and expediting diagnoses for pediatric patients with genetic disorders.
Related Topics
Concepts
Exome sequencing
Whole genome sequencing
Exome
Medicine
Genetic testing
DNA sequencing
Data science
Genome
Genetics
Biology
Computer science
Mutation
Gene
DNA
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/jpm13060899
- https://www.mdpi.com/2075-4426/13/6/899/pdf?version=1685356148
- OA Status
- gold
- Cited By
- 1
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4378528324
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4378528324Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/jpm13060899Digital Object Identifier
- Title
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Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a SurveyWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
-
2023-05-26Full publication date if available
- Authors
-
Mario Cesare Nurchis, Gian Marco Raspolini, Aurora Heidar Alizadeh, Gerardo Altamura, Francesca Clementina Radio, Marco Tartaglia, Bruno Dallapiccola, Gianfranco DamianiList of authors in order
- Landing page
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https://doi.org/10.3390/jpm13060899Publisher landing page
- PDF URL
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https://www.mdpi.com/2075-4426/13/6/899/pdf?version=1685356148Direct link to full text PDF
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://www.mdpi.com/2075-4426/13/6/899/pdf?version=1685356148Direct OA link when available
- Concepts
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Exome sequencing, Whole genome sequencing, Exome, Medicine, Genetic testing, DNA sequencing, Data science, Genome, Genetics, Biology, Computer science, Mutation, Gene, DNATop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
- Citations by year (recent)
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2024: 1Per-year citation counts (last 5 years)
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30Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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