Exploring crucial role of NGS in diagnosis of infectious diseases

Before delving into the ways NGS aids in diagnosing infectious diseases, let’s briefly understand what NGS is. NGS is also known as massive parallel sequencing or high-throughput sequencing technology that allows scientists to sequence millions of deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) fragments simultaneously. Unlike traditional sequencing methods, which are time-consuming and often limited in scale, NGS can analyse vast amounts of genetic material quickly and cost-effectively. This technology has revolutionised genomics and molecular biology research, and its applications extend beyond genetics to infectious disease diagnosis. The importance is exemplified by the fact that it took 13 years to complete the human genome project between 1990 to 2003 however now with the help of NGS the complete human genome can be sequenced within 48 hours.

One of the most significant advantages of NGS in infectious disease diagnosis is its ability to rapidly identify pathogens. Traditional methods, such as culturing and polymerase chain reaction (PCR), can take days or even weeks to yield results. NGS, on the other hand, can identify multiple pathogens simultaneously within hours. This speed is crucial during outbreaks, enabling swift measures to be implemented.

Emerging infectious diseases pose a constant threat to public health. NGS excels in detecting previously unknown or emerging pathogens. By sequencing the genetic material of a sample, NGS can identify new strains of viruses or bacteria, providing critical information to public health authorities. This was evident during the early stages of the Covid-19 pandemic when NGS played a pivotal role in characterising the novel coronavirus and tracking its spread. NGS has played a pivotal role in tracking the spread of the SARS-CoV-2 virus and monitoring the emergence of new variants. This data-driven approach has helped public health officials adapt their strategies and develop vaccines and diagnostics methods tailored to specific viral strains.

NGS can distinguish between different strains and subtypes of pathogens, such as different strains of influenza or variants of the human immunodeficiency virus (HIV). This is important for tracking the spread of specific strains and tailoring treatment or prevention strategies accordingly.

NGS allows for high-resolution genomic epidemiology, which means tracking the spread of infectious diseases at a genetic level. By comparing the genetic sequences of pathogens from different cases, scientists can create detailed transmission networks. This information helps public health officials understand how a disease is spreading and design targeted interventions to contain it.

NGS can be applied to metagenomic analysis, which involves sequencing all the genetic material in a clinical sample without prior knowledge of the pathogens present. This is particularly useful for identifying multiple pathogens in complex clinical samples or for studying the microbiome’s role in infectious diseases.

NGS can be used to detect and monitor anti-microbial resistance (AMR) genes in pathogens. This information guides clinicians in prescribing the most effective antibiotics and assists public health agencies in developing strategies to combat AMR.

The impact of NGS on infectious disease diagnosis extends beyond the laboratory. Its benefits for public health are profound. NGS enables the early detection of infectious diseases, allowing public health authorities to respond swiftly.

NGS allows for personalised treatment strategies. By analysing the genetic makeup of pathogens, clinicians can tailor treatments to individual patients, increasing the likelihood of successful outcomes.

NGS generates vast amounts of data that can be shared and analysed globally. This facilitates international collaboration in tracking and combating infectious diseases, as was evident in the sharing of Covid-19 genomic data. NGS contributes to a more robust disease surveillance system. By continuously monitoring the genetic diversity of pathogens, scientists can anticipate changes in infectious diseases, enabling proactive measures. The use of NGS in infectious disease diagnosis raises public awareness about the importance of genomics in healthcare. This, in turn, fosters a more informed and engaged public, willing to participate in disease prevention efforts.

NGS has emerged as a game-changer in the field of infectious disease diagnosis. Its unparallelled speed, accuracy, and ability to detect co-infections and emerging pathogens make it an indispensable tool in public health. By providing real-time genomic epidemiology data, NGS empowers public health officials to respond rapidly and effectively to outbreaks, ultimately improving public health outcomes.

This article is authored by Suresh Thakur, president, scientific affairs, Trivitron Healthcare.

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