Targeted Next Generation Sequencing - Definition & Use
Targeted Next Generation Sequencing is a molecular genetic diagnostic method that analyzes selected gene regions with high precision and is used in precision medicine.
Things worth knowing about "Targeted Next Generation Sequencing"
Targeted Next Generation Sequencing is a molecular genetic diagnostic method that analyzes selected gene regions with high precision and is used in precision medicine.
What is Targeted Next Generation Sequencing?
Targeted Next Generation Sequencing (Targeted NGS) is a state-of-the-art molecular genetic analysis technique in which specifically selected regions of the human genome (DNA) are simultaneously sequenced with high precision. Unlike sequencing the entire genome (Whole Genome Sequencing) or all protein-coding regions (Whole Exome Sequencing), Targeted NGS focuses on a predefined panel of genes or genomic regions that are clinically relevant for a specific disease or diagnostic question.
The method belongs to the group of high-throughput sequencing technologies (Next Generation Sequencing, NGS) and enables the parallel analysis of hundreds of thousands to millions of DNA fragments in a single sequencing run. This makes it an indispensable tool in modern precision medicine and personalized therapy.
Principle and Workflow
The Targeted NGS workflow involves several sequential steps:
- DNA Extraction: Genomic DNA is isolated from a patient sample (e.g., blood, tissue, bone marrow, or swab).
- Library Preparation: The DNA is fragmented and ligated with specific adapter molecules that allow binding to the sequencing platform.
- Target Enrichment: Using hybridization probes or PCR-based amplification, only the desired gene regions are enriched and selected.
- Sequencing: The enriched DNA fragments are sequenced on an NGS platform (e.g., Illumina, Ion Torrent) in millions of parallel reactions.
- Bioinformatic Analysis: The generated raw data are aligned to a reference genome using specialized algorithms to identify and classify genetic changes (variants).
Clinical Applications
Targeted NGS is used across numerous medical specialties:
Oncology
In cancer diagnostics, Targeted NGS enables the analysis of tumor-specific mutations in relevant genes such as BRCA1/2, EGFR, KRAS, ALK, or TP53. This information is critical for selecting targeted therapies and for prognostic assessment.
Human Genetics and Rare Diseases
When investigating rare genetic disorders, a specific gene panel allows rapid and cost-effective diagnosis when a particular disease group is suspected clinically, such as cardiac diseases (cardiomyopathy panel), hereditary immune disorders, or neuromuscular diseases.
Infectious Disease and Microbiology
Targeted NGS is also used for pathogen identification and resistance testing in bacteria, viruses, and fungi, enabling rapid and precise adjustment of treatment strategies.
Prenatal Diagnostics
Within the context of prenatal diagnostics, Targeted NGS enables the early detection of genetic conditions in the unborn child.
Advantages Over Other Sequencing Methods
- High Sequencing Depth: Because only selected regions are sequenced, a very high coverage can be achieved, enabling the detection of even rare variants.
- Cost Efficiency: Compared to whole-genome sequencing, Targeted NGS is significantly more affordable.
- Speed: Clinically relevant results are available within a short turnaround time.
- Reduced Data Volume: Smaller datasets simplify bioinformatic analysis and facilitate clinical interpretation.
- Clinical Focus: Limiting the analysis to clinically relevant genes reduces unwanted incidental findings.
Limitations
Despite its strengths, Targeted NGS also has limitations:
- Only predefined gene regions are analyzed; newly discovered disease genes are not captured.
- Certain mutation types such as large chromosomal rearrangements or repeat expansions can be more difficult to detect.
- The quality of results depends on the quality of the input DNA sample.
- The interpretation of Variants of Uncertain Significance (VUS) remains a clinical challenge.
Importance in Precision Medicine
Targeted NGS is a central tool of modern precision medicine. It enables individualized, genotype-driven treatment decisions tailored to the genetic profile of each patient. Particularly in oncology, the method has contributed to ensuring that patients with specific mutations can benefit from innovative targeted therapies that would not be applicable without such diagnostic insights.
References
- Metzker, M. L. (2010). Sequencing technologies - the next generation. Nature Reviews Genetics, 11(1), 31-46. https://doi.org/10.1038/nrg2626
- Sims, D., Sudbery, I., Ilott, N. E., Heger, A., & Ponting, C. P. (2014). Sequencing depth and coverage: key considerations in genomic analyses. Nature Reviews Genetics, 15(2), 121-132. https://doi.org/10.1038/nrg3642
- Rehm, H. L. et al. (2013). ACMG clinical laboratory standards for next-generation sequencing. Genetics in Medicine, 15(9), 733-747. https://doi.org/10.1038/gim.2013.92
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