The field of biology and all the other fields in relation with it, over the years have rapidly evolved as they have lots of discoveries and breakthroughs in their history. The last years a really promising technology made its first steps in the scientific field and it is called next generation sequencing, but we can also refer to it as NGS or massively parallel sequencing. This technology can be used to determine a specific part of the nucleotide sequence in the genome of an individual. In order to succeed that, NGS technology uses techniques that determine DNA sequences and can process multiple sequences at the same time. So, the question is how can that technology be related to clinical medicine and by that term we mean the field of medicine that investigates any kind of diseases in living subjects.
First of all, in order to understand the relevance between the two terms we have to take a closer look into the technology we are dealing with. The fathers of the next generation sequencing are considered is to be Sanger, Coulson Maxam and Gilbert. The first one to describe the techniques was Sanger in 1977 and since then it has undergone a steady development and evolution and now it is considered to be one of the best inexpensive method sanalysing DNA. However, nowadays there have been induced new techniques that have nothing to do with the ones Sanger used. So basically, with this method scientists can figure out the order of the nucleotides in the DNA, by using every available method and technique in the field of genetic engineering to determine the sequence of DNA.
Next Generation Sequencing and high throughput technologies have become invaluable tools in clinical applications because of their utility in diagnosis and personalized treatments. NGS allows the sequencing of large numbers of different DNA fragments simultaneously in a single reaction. So, it is possible to analyse the sequence of genes, without big expenses and fast, that are related to specific diseases and that is why NGS is accessible to clinical medicine field. Scientists can now assure us that in the future that applications of that technology will give information for each patient specifically.
With NGS and the sequencing of the human genome, scientists manage to learn more and treat diseases as they can now apply their knowledge in patients. With these methods mutations, that can affect phenotypes and can possibly cause diseases, have been detected. So, according to that, scientists have applied next generation sequencing in clinical medicine.
It is likely to see next generation sequencing being applied in order to scan for abnormalities. So, scientists use NGS for screening for genetic disorders. In that way, it is possible to use screening to detect diseases in new-borns and due to the fact that NGS has a higher sensitivity for carrier screening of recessive disorders, the detection of mutations in more affected births it is allowed. Moreover, they are now trying to detect genetic disorders in the developing fetus and will probably succeed it in the near future.
Also, it has to be noted that NGS can and has to be used for disease diagnosis, as its genetic nature makes it a helpful tool. The most important, however, is that NGS technology can be really beneficial diagnostic factor in cancer. That is because this method, as I already mentioned, can detect mutation in someone’s genome. Actually, mutations can be detected in those who have a high chance to develop cancer, according to their family’s history. In addition to that, scientists are able to determine the best treatment approaches for each patient’s case. Furthermore, as far as Mendelian diseases are concerned, via NGS rare variants in patients with Mendelian diseases phenotypes can be detected. That application enhances the prognostic process and is conducive to early treating of the secondary treatments that were caused by genetic disorders.
Along with the above, due to the fact that next generation sequencing can help us find mutations in someone’s genome, NGS technology can be used to carry out tests to detect mistakes in the DNA sequence that might cause disorders. According to that, diseases that can be found and treated by the best approach are: related glycosylation disorders, associated diseases to the mitochondrial function, cardiovascular diseases, haematological disorders, primary dyskinesia of cilia, epilepsy, hearing impairments, etc. So generally, all diseases that might have been caused by genetic abnormalities can be identified by NGS.
The last years have been formed platforms that can achieve low-cost mass sequencing of many samples at the same time with a very large number of samples. At the present though, this very high yield is achieved with disadvantages referring to the length and accuracy of reading, compared to the classical methods. However, these disadvantages are overweighed by the extraordinary overlaps of reading. Indeed, when there is a known genome of reference, these new platforms are directly applicable with very high performance.
All in all, NGS technology have not yet reached the point to be wieldy used as a reliable method. However, even if the potential NGS has might be huge, at the present is used primarily for research. It has to be pinpointed, though that next generation sequencing plays an important role in all steps in the clinical disease management process. So, according to that, we can achieve higher survival rates, as well as an improved quality of life.
References:
Article title: Next-Generation Sequencing Popular Applications | Macrogen
Website title: Macrogen Corp.
URL: https://macrogenlab.com/2016/09/01/next-generation-sequencing-popular-applications-in-clinical-medicine/
Website title: Ir.lib.uth.gr
URL: http://ir.lib.uth.gr/bitstream/handle/11615/43014/12782.pdf?sequence=1
Authors: Maria Stamatopoulou
Article: Clinical applications of NGS
Publication date: June 2014
Website title: ScienceDirect
URL: https://www.sciencedirect.com/science/article/pii/S092544391400180X
Article title: Next generation sequencing technology: Advances and applications
Published date: 2014