The Impact of NGS on Laboratory Diagnosis

Background: Next-generation sequencing (NGS) offers a comprehensive and efficient approach for analyzing the genetic alterations associated with cancer. It allows for simultaneous high-throughput sequencing of multiple genetic regions across multiple samples, yielding a wealth of data on mutations, copy-number variations, insertions, deletions, and gene fusions. NGS surpasses the sensitivity of traditional Sanger sequencing, requiring less DNA/RNA and providing faster turnaround times for clinical reporting. Methods such as whole-genome sequencing, whole-exome sequencing, and targeted gene panel sequencing cater to different needs, balancing between breadth of data and cost-effectiveness. Additionally, RNA-Seq enables the study of transcriptomic changes, including alternative splicing and gene expression. While companies like Life Technologies offer disease-specific NGS kits, Illumina provides more generalized cancer panels. Despite its increasing use in diagnostics, formal guidelines for the clinical application of NGS in cancer genetics are still being developed to ensure accuracy and reliability in molecular diagnosis (۱-۵). Materials and Methods: This study is a study that was conducted with English keywords, Next Generation Sequencing, diagnose, laboratory in reliable scientific databases such as PubMed, Google scholar in the period from ۲۰۱۸ to ۲۰۲۵ and in the initial search ۲۹ articles were found, and after evaluating the title and abstract, ۵ articles were selected with the necessary conditions to participate in the present study, and general conclusions were made based on the information in the selected articles. Results: Applications of NGS across three key areas: constitutional disorders, oncology, and infectious diseases. In constitutional disorders, NGS, particularly whole-exome and whole-genome sequencing, has significantly improved diagnostic yields, enabling the identification of novel disease-associated genes and facilitating reverse phenotyping. In oncology, NGS is crucial for detecting somatic mutations, copy number variations, and fusion genes, guiding targeted therapies and monitoring minimal residual disease. For infectious diseases, NGS aids in rapid pathogen identification, antibiotic resistance profiling, and epidemiological surveillance, enhancing outbreak tracking and treatment precision. Despite its advantages, challenges such as high error rates, data storage, and interpretation complexities remain, necessitating ongoing advancements in sequencing technologies and bioinformatics. Conclusion: Next-Generation Sequencing (NGS) has revolutionized the molecular diagnostics landscape by providing new opportunities for the detection of genetic mutations responsible for diseases. A growing number of clinical laboratories are adopting NGS to identify genetic roots in inherited disorders, to personalize cancer therapy through genomic profiling, and to identify infectious agents. With continuous advancements in NGS technologies and analysis tools, they are expected to become the standard technique in genomic diagnostics, meeting the increasing demand for personalized medicine.

کلیدواژه ها:

Next Generation Sequencing ، Diagnose ، Laboratory