Next-generation sequencing (NGS): answers to key questions
What is next-generation sequencing?
Next Generation Sequencing (NGS) is a modern laboratory technique that allows millions of DNA or RNA fragments to be read simultaneously. Unlike older methods, NGS opens up the possibility of analyzing an entire genome, exome, or group of genes with high accuracy.
What is the advantage of NGS over classical methods?
NGS is faster, more accurate and more scalable. For example:
One run allows for the analysis of hundreds of genes simultaneously.
Even the smallest mutations can be detected.
Suitable for genome, transcriptome, microbiome, and virus analysis.
Compared to the Sanger method, NGS is more sensitive and cheaper for large data sets (see. FDA).
Where is NGS used in medicine?
NGS is a tool that is used today in:
Oncology: to detect mutations in tumors (e.g. BRCA1/2, EGFR)
Hereditary medicine: diagnosis of rare genetic syndromes
Prenatal diagnosis: fetal DNA analysis
Infectious medicine: detection of antibiotic resistance
Microbiology: studying the microbiome of the gut, skin, lungs
What does the analysis look like? Is it difficult?
No, it's simple. In most cases, sequencing requires a blood, saliva, or biopsy sample. Then everything happens in the lab:
Isolation of DNA or RNA
Fragmentation and library preparation
Starting the sequencer
Bioinformatic processing
The patient receives the result in the form of a report with a comment from a geneticist or doctor.
Does NGS influence treatment choices?
Yes, directly. In personalized medicine, NGS results help:
identify effective drugs (e.g., BRAF inhibitors in melanoma)
avoid medications that don't work (for example, if there is a KRAS mutation)
assess the risk of adverse reactions
Such approaches are recommended Mayo Clinic for widespread use in oncology.
What is the cost and availability of sequencing?
Prices depend on the scope of the analysis:
Panel sequencing (10–50 genes): from 3,000 UAH
Exome sequencing: 8,000–20,000 UAH
Full genome sequencing: from 30,000 UAH
Every year the price decreases, and laboratories become more accessible.
Comparison of sequencing types
| Sequencing type | Scope of analysis | Main application |
|---|---|---|
| Gene panel | 10–100 genes | Oncology, cardiogenetics |
| Exome sequencing | All protein genes | Hereditary diseases, rare mutations |
| Complete genomic | Whole genome | Scientific research, clinical cases |
| RNA sequencing | Gene expression | Tumor and biomarker research |
In which situations is NGS particularly recommended?
Uncertain diagnosis after standard tests
Family history of cancer or genetic diseases
Pregnancy planning with suspected genetic risks
Choosing targeted therapy for oncology
Is the technology safe?
Absolutely. The analysis is non-invasive or minimally invasive (depending on the material) and does not pose any health risks. The data is stored anonymously in accordance with bioethical standards.
NGS is more than just an analysis. It’s a digital portrait of your body that helps doctors understand you better and treat you more accurately. In a world where medicine is becoming increasingly personalized, next-generation sequencing is its cornerstone.
Director of Medi Lab Plus LLC, a doctor of the highest category. Has over 45 years of practical experience in medicine and laboratory diagnostics. Founder and head of the laboratory since 2007. More details…