Translational research has had a transformative effect on the discovery of new cancer treatments. One of the most important developments in modern cancer care is the transition away from organ-centric treatment and toward personalised deep molecular analysis. This shift is one of the most significant advances made in personalised medicine.

The use of Next-Generation Sequencing in conjunction with RNA sequencing has resulted in an improvement in the capability to discover molecular abnormalities that are predictive and prognostic in nature. Now that so much attention is being paid to the molecular changes that are characteristic of tumours, personalised medical care is finally becoming a reality.

Figure 1. Schematic diagram showing how the use of precision techniques can improve patient treatment and population health. Image adapted from Bilkey et al. (2019).

The concept of “personalized medicine” derives from the idea that each individual possesses nuanced and unique characteristics on multiple levels, including molecular, physiological, and environmental exposure. As a result, individuals with certain diseases may require interventions that are tailored to these nuanced and unique characteristics in order to be effectively treated for those diseases.

It is true that personalised medicine is revolutionising medical practise in the 21st century and is also showing key advantages and benefits not only to patients but also to scientists, doctors, and the NHS in the UK.

For example, thanks to personalised medicine, patients have access to a wide selection of new treatments that are more effective and targeted to their specific needs. Scientists will be able to design more efficient clinical trials and create novel pharmacological treatments that target specific genetic abnormalities. The medical doctors will have access to high-quality genetic testing, which will make it possible to build patient-specific treatment programmes that are tailored to the patient’s specific needs. This will cut the costs to NHS which will provide a more effective and better treatment to patients.

One critical aspect of personalised medicine is NGS which has provided a significant step forward by enabling the detection of somatic driver mutations, resistance mechanisms, quantification of mutational burden, and germline mutations, which settled the foundation for a new approach in cancer care.

This technique was first referred to as “massively parallel sequencing” because it made it possible to sequence a large number of DNA strands simultaneously, as opposed to the classic Sanger sequencing approach, which uses capillary electrophoresis and sequences one DNA strand at a time (CE).

The Principles of the Next-generation Sequencing

Figure 2. Schematic diagram showing the main platforms and chemicals used for 2G sequencing. Image adapted from Technology Networks (2021).

NGS  follows a similar fundamental principle to that of capillary electrophoresis. Steps in this process include fragmenting of DNA/RNA into multiple pieces, inserting sequencer-specific “adapters” into the fragments, sequencing the resulting library, and reassembling the fragments into a whole genome. There are many different platforms and chemistries that NGS use. For example, proton detection sequencing counts DNA-polymerized hydrogen ions. It does not use fluorescence, optics, or changed nucleotides like other methods. Instead, semiconductor sensor chips are used to detect pH changes which are then converted to digital information (Figure 2).

In contrast, pyrosequencing uses the production of pyrophosphate and the detection of light to determine whether or not a particular base has been integrated into a DNA chain.

The capacity to generate sequencing reads in a quick, sensitive, and cost-effective manner is one of the many advantages that 2G NGS technology in general offer over alternative sequencing techniques. However, this method is not without its drawbacks, the most notable of which are a poor interpretation of homopolymers and the incorporation of erroneous dNTPs by polymerases, both of which lead to errors in sequencing.

Personalised medicine is playing a key role in the treatment of patients in the 21st century by providing more effective treatments tailored to the patient’s genetics and lifestyle. Many essential technologies, such as Next-Generation Sequencing, are providing a significant step forward in personalised medicine. These technologies make it possible to detect somatic driver mutations and resistance mechanisms, which not only leads to the early identification of diseases but also suggests tailored treatments for patients’ diseases. The NGS established the groundwork for a novel strategy in the treatment of cancer.

© COPYRIGHT: This article is the property of We Speak Science, a non-profit organization, cofounded by Dr. Detina Zalli and Dr. Argita Zalli. The article is written by Renilda Bregu, Justus-Liebig-Universität Gießen (JLU).


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