Next-Generation Sequencing (NGS) is a genome sequencing technology that can sequence hundreds and thousands of genes or whole genomes in a short duration. It is used for determining the sequence of DNA or RNA to study genetic variation associated with diseases or other biological conditions. It is used for various clinical applications, such as disease diagnosis, prognosis, therapeutic decision, and follow-up of patients. In addition, this deep sequencing technology offers new opportunities for precision medicine.
NGS technology has revolutionized the field of genetic disease diagnostics with rapid, high-throughput, and cost-effective approaches. NGS can simultaneously analyze hundreds of genes, the whole exome, and even the whole genome, enabling researchers to gain a deeper understanding of the genetic heterogeneity of rare diseases. NGS technologies allow the understanding of unknown species and complex diseases. The technology has recently gained traction in diagnosing infectious diseases, immunological disorders, and hereditary disorders. It is also widely used for non-invasive prenatal diagnosis and therapeutic decision-making for patients with somatic cancers.
NGS technology is gaining traction in oncology, which can be attributed to the speed, accuracy, and increasing affordability of NGS. NGS has helped evolve the field of precision medicine, which involves tailoring treatments based on disease-causing molecular changes in a person's body. While NGS has been used in various scenarios, oncologists currently use it to sequence their patients' biopsy samples to determine the right medicines that target the genetic abnormalities driving tumor growth.
Cancer is a prominent cause of death and a major obstacle to improving life expectancy. According to the World Health Organization (WHO), cancer incidence is expected to increase from 19.29 million new cases in 2020 to 24.58 million new cases in 2030, while the mortalities from cancer are expected to increase from 9.95 million deaths in 2020 to 12.94 million deaths in 2030.
NGS has great potential to enhance cancer diagnosis and care. With the use of NGS technology, various genomic aberrations can be screened simultaneously, including common and rare variants, structural variations (e.g., insertions and deletions), copy-number variations, and fusion transcripts. In several studies, NGS has been found to be useful in detecting clinically actionable mutations in cancer patients. The Genomics Evidence Neoplasia Information Exchange (GENIE) estimates that 30% of tumors sequenced in the GENIE consortium have mutations that currently available therapies can target.
Techniques such as immunohistochemistry (IHC) and fluorescence in-situ hybridization (FISH) have been conventionally used for the molecular profiling of cancer cells to identify targetable alterations. However, for using these techniques, a customized assay is required for each analyte, and every biomarker must be pre-specified to be detected. NGS can analyze a wide range of genetic alterations simultaneously, including mutations, copy number variations (CNV), translocations, and fusions in multiple genes. As a result, it enables a more efficient, cost-effective, and tissue-saving tumor study compared to serial single-biomarker analyses, especially given the genomic complexity known to occur inside tumor cells. Thus, NGS services are increasingly being used for genomic profiling in targeted cancer therapy applications due to the decreasing costs and turnaround time of NGS, improvements in bioinformatics analyses, and the harmonization of knowledge bases to facilitate the clinical interpretation of genomic results.
Additionally, the use of NGS testing for companion diagnostics is increasing rapidly. With the increased prevalence and incidence of cancer, precision or personalized medicine is gaining traction in oncology, and developing effective therapies is becoming critical for researchers. Precision medicine is being used to treat certain tumors to help determine which tests and treatments can be the most effective. Precision medicine is sometimes utilized for individuals with certain cancers or at a higher risk of developing specific cancers. Precision medicine in oncology utilizes the unique genetic makeup of individual patients and genetic information from patients' tumors to discover and determine an appropriate and effective course of treatment.
According to Meticulous Research®, the NGS library preparation market is projected to reach $6.47 billion by 2030, at a CAGR of 16% during the forecast period 2023–2030.
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