Next Generation Sequencing (NGS) has revolutionized biological research
Next Generation Sequencing (NGS) has revolutionized biological research by allowing for the simultaneous sequencing of millions of DNA fragments. This high-throughput capability enables the rapid analysis of entire genomes or targeted exomes, providing unprecedented insights into the genetic architecture of disease. It has moved from research labs into routine clinical diagnostics.
The technology relies on sophisticated bioinformatics pipelines to align reads and identify variants against a reference genome. In clinical oncology, NGS is used to detect somatic mutations that can be targeted with specific therapies, while in pediatrics, it helps solve "diagnostic odysseys" by pinpointing rare hereditary mutations.
The process involves library preparation, clonal amplification, and sequencing-by-synthesis, producing vast amounts of data that require significant computational power to interpret. The ability to detect single nucleotide polymorphisms, insertions, deletions, and structural variants in one assay makes it more efficient than traditional Sanger sequencing. This granularity allows for the detection of low-frequency alleles, which is vital for understanding tumor heterogeneity.
As the cost of sequencing continues to decline, its integration into public health—such as newborn screening and infectious disease surveillance—becomes more feasible. Ethical considerations regarding incidental findings and data privacy remain at the forefront of the discussion. However, the clinical utility of having a complete genetic map for a patient is undeniable, facilitating a shift toward truly personalized preventative and therapeutic strategies.