Next Generation Sequencing in Genetics

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Table of Contents

Mechanism
Latest Case Study and Research
Advantages of NGS
Disadvantages of NGS
Conclusion
References

Next-generation sequencing (NGS) is a term used to define or describe new sequencing methods that allow for faster, cheaper and convenient RNA and DNA sequencing. It has continued to transform the study of molecular biology and genomics. Despite being a young development or field, NGS has become critical and useful in a number of analyses involving RNA and DNA sequencing within the past decade.

The power of modern machines and innovation is making it possible for researchers and scientists to sequence millions of DNA and RNA molecules instantly. The current trend is that many professionals and scholars are relying on NGS to pursue additional medical studies, monitor the development of genetic diseases and conduct clinical diagnostics. This practice has become possible since NGS supports the sequencing of several samples within the same period.

The major technologies in this field include pyrosequencing, sequencing by litigation, ion semiconductor sequencing and sequencing by synthesis (Akkari, Smith, Westfall, & Lupo, 2019). Researchers are also considering new ideas and advancements to take this process to the next level. This paper gives a detailed discussion of the mechanism of NGS and latest researches in the field.

Mechanism

Massive parallel sequencing or NGS is a field that developed within the past two decades. Adamo et al. (2018) indicate that the earliest platforms for NGS became available between 1994 and 1998. Within a period of seven years, such technologies had been commercialised in different parts of the world. Many experts believe that this kind of innovation is going to advance in the future and continue to meet the increasing demands for DNA analysis and sequencing.

Several steps are considered when conducting this kind of sequencing. Firstly, clonal amplification is done to generate the required DNA libraries. This is usually conducted through PCR in vitro (Akkari, Smith, Westfall, & Lupo, 2019). Secondly, nucleotides are added to the sequenced DNA using a process known as synthesis (Adamo et al., 2018). Thirdly, the amplified and spatially segregated DNA strands are sequenced in a massive or large-scale fashion.

This means that physical separation is unnecessary or unneeded. Although each available NGS might have a unique strategy, it tends to follow these key processes or procedures. The materials required for DNA sequencing include blood and other body samples, including hair and dead tissues. Adequate quantities should be collected and used for the NGS process in an attempt to deliver positive results.

Latest Case Study and Research

Cancer has become a major health challenge affecting many experts in the field of medicine and patients. With the advancement of NGS, researchers in this area have been keen to adopt its use for detecting and analysing a wide range of mutations in human cells. This technology has been found effective in studying loss-of-function and activation mutations in different gene targets. The use of NGS has made it possible for analysts to make informed decisions, guide therapy and empower clinicians to provide timely decisions to their respective patients. When professionals rely on personalised medicine, it becomes possible to get additional information regarding a specific cancer patient’s genome and every available variant (Adamo et al., 2018).

This means that the use of NGS will continue to make it possible for researchers to sequence different mutant cells and understand how such diseases develop. The practice will also become a new opportunity for understanding the development mechanisms of the affected cells and illnesses (Alekseyev et al., 2018). The information will also empower those in the pharmaceutical business to develop superior drugs and therapies for treating various cancers. The end result is that more people will record positive health outcomes and eventually realise their potential.

A great scientist by the name William Daniel Hillis once said this: Your genome knows more about your medical history than you do (“W. Daniel Hillis Quotes,” n.d.). This quote supports the role and importance of NGS in sequencing DNA and presenting evidence-based ideas uncovering more about the development of diseases, both communicable and hereditary. This knowledge or understanding has continued to guide and encourage more scientists and researchers to focus on NGS to transform the quality of medical services available to different patients.

The research article, “Implementation of Cancer Next-Generation Sequencing Testing in a Community Hospital” reveals that the adoption and use of NGS is going to make it possible for human beings to integrate the collected data from the sequenced DNA strands to uncover new ideas and apply them to advance the field of medicine. The information will support the needs of different players in this industry and eventually ensure that more citizens receive high-quality medical services (Akkari, Smith, Westfall, & Lupo, 2019). This research is essential since it gives additional thoughts regarding the acceptability of NGS and how it will promote new studies aimed at maximising the health outcomes of more people.

Advantages of NGS

Since it is a young field, NGS presents several advantages that make it useful and applicable in a wide range of settings. The first advantage is that it has an increased level of throughput when it comes to sample multiplexing. The second one is that it empowers researchers and scientists to sequence millions of gene regions or genes within the same time (Akkari et al., 2019). The third strength associated with NGS is that it is a fast process that is appropriate for large samples. The fourth one is that it has a high sensitivity, thereby being able to detect low-frequency samples or variants. Finally, it has been found to offer a comprehensive coverage for genomes.

Disadvantages of NGS

There are specific disadvantages associated with this kind of platform or technology. Firstly, the concept behind NGS is capable of undermining people’s autonomy and rights. This is the case since the process might present unethical questions, such as paternity disputes and hereditary diseases. This means that different stakeholders should collaborate and present superior policies to overcome this bottleneck. Secondly, the price for getting DNA analysis results is quite high. This is true since the machines tend to be expensive and unaffordable to many health facilities (Akkari et al., 2019). Thirdly, the question of safety arises when individuals are relying on the power of NGS. This means that someone can present wrong samples, thereby affecting the physical or health security of the targeted individual.

Conclusion

The above discussion has identified NGS as a modern technology for sequencing DNA and RNA. It has become useful in different fields, such as medicine, molecular biology and genetics. Current studies are focusing on the best strategies to ensure that most of the problems many people face are addressed. Despite the outlined disadvantages, the future of this field seems to be bright and capable of guiding different individuals to learn more about their genes and address most of the diseases affecting humanity today.

References

Adamo, J. E., Bienvenu, R. V., Fields, F. O., & Ghosh, S. (2018). The integration of emerging omics approaches to advance precision medicine: How can regulatory science help? Journal of Clinical and Translational Science, 2(5), 295-300. Web.

Akkari, Y., Smith, T., Westfall, J., & Lupo, S. (2019). Implementation of cancer next-generation sequencing testing in a community hospital. Cold Spring Harbor Molecular Case Studies, 5, a00370. Web.

Alekseyev, Y. O., Fazeli, R., Yang, S., Basran, R., Maher, T., Miller, N. S., & Remick, D. (2018). A next-generation sequencing primer–How does it work and what can it do? Academic Pathology, 5, 1-11. Web.

W. Daniel Hillis Quotes. (n.d.). Web.

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