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Updated: May 3, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Consequences of next-generation sequencing: does sharing information mean spreading sorrow?]
Jan Westerink1, Wilko Spiering
1Universitair Medisch Centrum Utrecht, afd. Vasculaire Geneeskunde, Utrecht.
Rapid whole genome sequencing is coming to clinics. Clinicians must be informed and involved in creating national guidelines for this powerful new technology.
Area of Science:
- Genomics
- Clinical Genetics
- Bioinformatics
Background:
- Next-generation sequencing (NGS) technologies are advancing rapidly.
- Whole genome sequencing (WGS) is becoming increasingly affordable and accessible.
- The integration of WGS into clinical practice presents significant implications.
Purpose of the Study:
- To highlight the impending availability of WGS in clinical settings.
- To emphasize the critical need for clinician education and involvement.
- To advocate for proactive development of national guidelines.
Main Methods:
- This is a conceptual and perspective-based abstract, not reporting empirical results.
- It synthesizes current trends in genomic sequencing technology.
- It discusses the implications for clinical practice and guideline development.
Main Results:
- WGS will soon be a routine clinical tool.
- Clinicians require comprehensive understanding of WGS.
- Active participation in guideline creation is essential.
Conclusions:
- The widespread adoption of WGS necessitates informed clinicians.
- Clinician involvement is crucial for developing effective national guidelines.
- Proactive engagement will ensure responsible implementation of genomic medicine.
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