NGS, or next-generation sequencing, is the latest genetic testing technology. It was created for the mass and rapid determination of DNA sequences in large volumes of genetic material. The popularity of this technology is understandable, as it forms the basis of the whole exome sequencing method. In addition, NGS differs significantly from Sanger technology. A study published on the website of the US National Institutes of Health notes the higher efficiency and greater independence of the method.
The distinctive feature of NGS compared to Sanger technology is the absence of limitations. Sanger sequencing focuses only on substitutions and small deletions. For other types of mutations, specialized analysis methods are usually used. In particular, fluorescence in situ hybridization (FISH) is used for standard karyotyping. Comparative genomic hybridization (CGH) microchips are also used to detect submicroscopic changes in the number of chromosome copies, such as microdeletions.
The use of NGS almost completely eliminates this need. Using AI-powered Software for NGS Genetic Testing | Inheri Next, specialists can obtain the entire data array, taking into account changes, forming detailed genetic panels. This allows doctors to study genomes without bias, and thus statistically reduce the chance of error.
What diseases can NGS detect?
Thanks to working with many parameters and large data sets, NGS research results have many variant interpretations and can replace most traditional research. Among the areas of diagnosis in which doctors can use NGS, the following should be mentioned:
Inherited disease diagnosis
Cystic fibrosis, Rett syndrome, Marfan syndrome, and many other diagnoses are hereditary and can be detected using NGS. The technology also allows for the diagnosis of rare genetic syndromes — previously, rare disease detection was nearly impossible using traditional methods.
Oncological diseases
Timely diagnosis of cancer can save a patient’s life. AI-powered genomics reveals its full potential in this area. NGS allows millions of elements to be examined in a matter of seconds, eliminating the human factor and the possibility of error.
Neurological diseases
The high diagnostic yield of the technology allows doctors to diagnose neurological diseases even before they progress. This applies to Parkinson’s, Alzheimer’s, and Charcot-Marie-Tooth diseases. In addition, NGS can help in the detection and study of autism.
In addition to the above, an article published in the National Library of Medicine also mentions the effectiveness of NGS in microbiology and in the study of mosaic mutations. This makes NGS one of the most advanced medical technologies available today.
Is NGS cost effective?
Efficiency is often associated with large financial investments. It seems that detailed research of this level of versatility must be expensive. However, in reality, the clinical NGS workflow is very inexpensive.
For comparison: one read using the Sanger method costs approximately €1. The cost of 150,000,000 reads using the NGS method is approximately €1,000. This makes next-generation sequencing a hundred times cheaper approach. However, there are certain difficulties.
For NGS to work effectively, a hospital must have the appropriate infrastructure. This is natural, as new technologies always change approaches to old ones. Clinics that acquire the appropriate equipment and technologies will be able to increase their throughput many times over, while improving the efficiency of their services and research.
