Next-Generation Sequencing or NGS has been a very useful tool in understanding genes, genomes, and metagenomes of different organisms and environments. Aside from its very wide application in gene sequencing, it is preferred by most scientists because it is relatively cheaper and easier to perform compared to other tools. In addition to this, it provides information about DNA sequences at a higher level of accuracy and complexity. With the development of this technology, whole genomes of different organisms, including humans were successfully sequenced and interpreted in a short period of time. Because of this, NGS has been an invaluable technology in genetic testing in clinical set-ups.
Genetic testing is done to analyze the genes of an individual in an attempt to provide predictions on possible health consequences of gene anomalies that can be detected. There are different types of genetic tests that can be done to collect results that can be used for different applications. Researches have also been conducted using genetic testing to design models for gene-related development of diseases.
Figure 1. Workflow for design, evaluation, and implementation of a diagnostic gene panel. (Bean, 2020)
Next-generation sequencing has been a great help in conducting genetic testing. It provides rapid and accurate results that can be used in different applications. NGS-based genetic tests are important in predicting the repercussions of genetic irregularity and preventing the development of gene and chromosome-linked diseases. One of the most common applications of NGS in genetic testing is in sequencing disease panels. Disease panels are a collection of different genes that are known to cause, or are associated with a particular disease. Scientists have found out that the development of certain diseases is connected to a network of genes that control the response to certain changes in the body which can trigger the onslaught of the disease. The knowledge collected from the sequencing of these genes could help in understanding disease development, its consequences, and provides an idea on the plan of action to be taken in order to cure or prevent the disease.
One of the most common disease panels that researchers are interested in is the cancer panel. Studies have shown that cancer is caused by a cascade of events controlled by certain genes. Multigene genetic testing using NGS aims to detect mutations in different genes including genes that are associated with an increased risk of cancer development. Some rare diseases have also been associated with specific disease panels that are used to detect if a person is likely to develop the rare disease.
All diseases are known to have a correlation to genes. Mutations in certain genes either inherited or caused by stress, infection, or toxins contribute to the development of diseases. The extent to which genetic mutations influence diseases are of interest to scientists. Understanding the mechanisms of genetic control helps in the development of early diagnostic tests, novel treatments, prevention of disease onset, and minimizing disease severity. Genetic testing is a helpful tool to collect information in genes that can be used to prevent diseases and improve the overall health of an individual.