• Investigating the role of NGS technology and its applications in the medical industry
  • Kiana Mohammadi,1,* Dr. Mohammad Valizadeh,2
    1. Master student in the field of genetics, Faculty of Sciences, Azad University, Parand Islamic Branch, Tehran, Iran
    2. Medical student of International Campus of Iran University of Medical Sciences and Health Services


  • Introduction: Since the completion of the Human Genome Project in 2003, there have been significant advances in genome sequencing technologies that have led to a reduction in costs and an increase in the number and diversity of sequenced genes. This method maximizes the number of sequenced bases in minimum time and generates a large amount of data and can be used to understand very complex phenotypes. This method enables researchers and doctors to build a variety of tools for examining the genome with high precision, which leads to an increase in our understanding of how gene variants cause phenotypes and diseases. NGS technology is becoming a common and versatile tool for biological and medical research. The high resolution and detection power of NGS enables us to pursue discoveries that were not possible with previous technologies. The use of NGS technology for complete DNA sequencing of cancer genomes has the potential to provide major advances in human understanding of the origin and evolution of cancer. NGS is an intensive parallel sequencing method that enables the sequencing of a large number of DNA fragments simultaneously in a single reaction. The amount of sequencing information by Sanger sequencing, which required years of time, was done with the NGS method in just a few weeks. In this article, an attempt has been made to examine the role of NGS technology and its applications in the medical industry by referring to the studies conducted in this field.
  • Methods: NGS method is used to screen a number of genetic diseases in babies. For example, this method is used for the accurate screening of Cystic Fibrosis (CS) in babies. The higher sensitivity of NGS for screening carriers of recessive disorders allows the detection of mutations in a larger number of individuals at a lower cost. The non-invasive application of NGS to detect genetic abnormalities in fetal development is rapidly developing. Today, NGS technology is used to screen for Down's syndrome, Pato's, Edward's and aneuploidy of sex chromosomes and some other disorders. The detection rate of Down syndrome with this method is more than 99%. These advances have highlighted the potential of using NGS as a standard method for prenatal screening and other clinical screening tests.
  • Results: The genetic nature of cancer has led to the use of NGS as a useful tool in cancer diagnosis. Also, this technology should be provided for the detection of mutations (for example, BRCA1) in people who are considered high-risk groups for cancer due to their family history. Currently, multigene cancer panels are available for re-evaluation of cancer and the information needed to determine appropriate treatment methods. Examining the response to specific treatment of each individual can be done when combined with NGS data. The information obtained from NGS can be used to avoid treatments that are accompanied by multiple complications in certain patients, and also specific treatments with high potential of success can be selected to avoid the pain and suffering and cost of performing treatment methods. It reduced the inappropriateness. Targeted treatments are now available for some types of cancer, and specific genetic changes in tumor cells are revealed based on NGS data. For example, the use of Imatinib Mesylate for CML patients, Panitumumab for clonorrectal cancer and Erlotinib for lung cancer can be mentioned. Since it is possible to develop resistance to chemotherapy agents, a targeted treatment process based on genomic information is very useful in these cases.
  • Conclusion: In the last decade, with the advent of Next Generation Sequencing (NGS) sequencing technology, the sequencing of genes and the diagnosis of genetic diseases have undergone a huge transformation. In this article, an attempt was made to review the role of NGS and its applications in the medical industry by referring to the studies conducted in this field.
  • Keywords: NGS, technology, sequencing, genetic diseases, medical industry