NGS - NEXT GENERATION SEQUENCING
Next Generation Sequencing (NGS) for the diagnosis of oncological diseases
Next Generation Sequencing (NGS), also known as next-generation sequencing, represents a modern molecular-genetic method that allows for detailed analysis of DNA and RNA with high speed, accuracy, and capacity. In the field of oncology, NGS has become a revolutionary tool for the diagnosis, prognosis, and selection of personalized therapy for patients with cancer.
While traditional molecular analysis methods, such as PCR or Sanger sequencing, allow for the detection of a limited number of genetic changes, NGS can analyze the entire genome, exome, or specific gene panels in a single test. Thanks to this, it is possible to identify key genetic mutations associated with cancer and better understand tumor biology.
PRINCIPLE OF NGS
NGS is a method of massive parallel sequencing that allows for the rapid and simultaneous reading of millions of DNA fragments. The process occurs in four main steps:
Library preparation – DNA or RNA is fragmented into smaller segments to which specific adapters are attached.
Amplification and sequencing – The fragments are amplified and subsequently sequenced using fluorescent and chemical markers.Amplification and sequencing – Fragments are amplified and subsequently sequenced using fluorescent and chemical markers.
Bioinformatics analysis – The enormous amount of data generated during sequencing is analyzed using powerful software.Bioinformatics analysis – The enormous amount of data generated during sequencing is analyzed using powerful software. The goal is to identify mutations, deletions, amplifications, and other changes in DNA or RNA.
Interpretation of results – The identified genetic changes are correlated with the patient's clinical data and evaluated in terms of their significance for oncological diagnosis and treatment.
APPLICATION of AveGene NGS in ONCOLOGY
DETECTION OF TUMOR-SPECIFIC MUTATIONS – AVEGENE SCREENING PROGRAM
NGS allows for the identification of somatic mutations that occur in tumor cells. These changes often lead to uncontrolled cell division and tumor growth. Examples include mutations in the TP53, KRAS, EGFR, or BRAF genes, which play a crucial role in various types of cancer (e.g., colorectal, lung, or melanoma).
AVEGENE - PHASE 2 (PLANNED FOR IMPLEMENTATION IN 2026)
AveGene - Personalized Medicine and Targeted Therapy
Thanks to NGS, mutations that are the "targets" of modern therapies can be identified in a specific patient. For example:
• EGFR mutations in non-small cell lung cancer indicate sensitivity to EGFR tyrosine kinase inhibitors.
• HER2 amplification in breast cancer is the target of trastuzumab therapy.
• BRAF V600E mutation is indicated in melanoma for treatment with BRAF inhibitors.
This makes it possible to provide a foundation for precision oncology, which tailors treatment to the individual genetic characteristics of the tumor.
AveGene - Monitoring Treatment Resistance
During treatment, tumor cells can adapt and develop resistance. NGS allows for real-time monitoring of tumor evolution. Analysis of circulating tumor DNA (ctDNA) using liquid biopsy can identify new mutations that lead to resistance, allowing for timely treatment adjustments.
AveGene - Early detection of tumors and prognosis
NGS can be used to identify minimal residual disease (MRD), which is the presence of a small number of cancer cells after treatment. This is important for detecting relapse at an early stage. Moreover, certain genetic changes can serve as prognostic markers that help estimate the course of the disease.
ADVANTAGES OF NGS OVER TRADITIONAL METHODS
• Comprehensive analysis – NGS allows simultaneous sequencing of hundreds to thousands of genes, whereas traditional methods are limited to a few target areas.
• Higher sensitivity – The ability to detect even very low mutation frequencies (e.g., in ctDNA) allows for early diagnosis.
• Speed and efficiency – A detailed genetic profile of the tumor can be obtained in a single test, which shortens the diagnostic process.
• Personalized treatment – By identifying relevant mutations, it is possible to specifically choose the optimal therapy.
The future of NGS is heading towards expanding sequencing capacities, improving bioinformatics tools, and broader use in routine clinical practice, including screening asymptomatic individuals for early cancer detection.
Next Generation Sequencing is a key tool in modern oncology. Its ability to quickly and accurately analyze genetic changes not only improves diagnosis and treatment personalization but also allows for monitoring disease progression and responding to changes in the tumor's genetic profile. With technological advancements and decreasing costs, NGS will play an increasingly significant role in the fight against cancer and provide doctors with an effective tool to improve patient care.