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Updated: May 6, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
36.1K
[Introduction to human genome sequencing in diagnostics].
Jakub Piatkowski1, Anna Skalniak, Marek Bodzioch
1Katedra i Klinika Endokrynologii, Uniwersytetu Jagiellońskiego, Collegium Medicum w Krakowie, Kraków. jakub.piatkowski@gmx.com
Przeglad Lekarski
|October 31, 2013
Summary
Next-generation sequencing (NGS) offers accessible individual genome sequencing for diagnostics. Further considerations regarding analysis, interpretation, and data management are needed for its routine clinical use.
Area of Science:
- Genomics and Bioinformatics
- Clinical Diagnostics
- Personalized Medicine
Context:
- Advancements in genetic analyzers and decreasing DNA sequencing costs are increasing accessibility for diagnostic laboratories.
- Genome sequencing is transitioning from primarily research use to potential routine patient evaluation.
- Current diagnostic approaches, like the Sanger method, may be supplanted by next-generation sequencing (NGS).
Purpose:
- To highlight the growing availability and potential of individual genome sequencing in clinical settings.
- To discuss the role of NGS in enabling personalized medicine.
- To identify key challenges hindering the widespread clinical adoption of genome sequencing.
Summary:
- Next-generation sequencing (NGS) provides powerful tools for personalized medicine, with increasing efficiency and decreasing costs making it more accessible.
- While NGS is currently dominant in research, its application in routine patient evaluation is anticipated.
- Critical questions remain regarding result interpretation, data management, and personnel responsibility for clinical genome sequencing.
Impact:
- Facilitates the realization of personalized medicine through comprehensive genomic insights.
- Presents opportunities for improved diagnostic accuracy and tailored therapeutic strategies.
- Highlights the need for establishing clear guidelines and infrastructure for clinical genome sequencing implementation.
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