The Far-Reaching Impacts of Next-Generation Sequencing

Next generation sequencing (NGS) refers to the high-throughput sequencing of whole genomes. In comparison to more traditional sequencing techniques that are only able to sequence individual samples, NGS is capable of analyzing millions, or even billions of DNA fragments in parallel.1 In the 20 years since the development of NGS, the technology has had significant impacts on a wide variety of life science and clinical fields, improving precision and personalized medicine, as well as unearthing historical discoveries. This infographic will explore some significant applications of NGS across these areas. The Far-Reaching Impacts of Next Generation Sequencing Written by: Kate Harrison, PhD | Design by: Janette Lee-Latour Personalized cancer treatment The limited sample requirements and rapid turnaround of NGS makes it ideal for use in personalized medicine and molecular diagnostics. Some hereditary mutations are known to increase risk of cancer – e.g., mutations in BRCA1 BRCA2 and the risk of breast cancer. Genetic testing can identify these risks, allowing early, preventative interventions. NGS has enabled rapid and affordable screening for rare diseases, allowing early diagnosis and reducing the need for invasive, expensive and drawn-out testing. Ancient DNA Analyzing ancient DNA samples using NGS allows recovery of DNA from more challenging degraded or trace samples and improves reliability of results as it reduces the impacts of contaminating modern DNA. NGS has been used to • Explore the pathways of early human migration • Study ancient diets • Open up exploration of extinct human lineages such as the Neanderthals and Denisovans. While this research can be used to understand the past, the study of extinct human, flora and fauna lineages can also be used to inform modern conservation decisions and help improve ecological restoration.6 Future applications As NGS sequencing continues to develop, even more potential applications are opening up: • Fragmentomics sequences fragments of DNA shed by cells into bodily fluids, which can provide pathological insights and allow longitudinal health studies without the need for invasive sample collection or biopsies. • Metagenomic sequencing has the potential to sequence both human and microbial genomes simultaneously, meaning that one sample could allow both identification of a pathogen and assessment of the body’s response to it. • Increasingly portable NGS machinery will expand the potential uses of sequencing in field-based settings such as agricultural sciences, environmental sciences and ecology and conservation. Up to 70% of the human microbiome is considered unculturable by traditional laboratory techniques, limiting our understanding. NGS allows high‑resolution study and characterization of the microbiome without the need for culture. This has allowed better understanding of the significant contribution of the microbiome to host functions and health, including specific microbial markers linking overgrowth of dysbiotic bacteria to diseases including type 2 diabetes and non-alcoholic fatty liver disease.2 Fecal microbiota transplants have been shown to alleviate the symptoms of chronic Clostridium difficile Synthetic microbiomes could be designed to alter host the host microbiota in a more controlled manner.3 Interventions aimed at the microbiome could target the root causes of some diseases, in another example of personalized medicine. For example: References 1. Satam H, Joshi K, Mangrolia U, et al. Nextgeneration sequencing technology: Current trends and advancements. Biology. 2023;12(7):997. doi:10.3390/biology12070997 2. Filardo S, Di Pietro M, Sessa R. Current progresses and challenges for microbiome research in human health: a perspective. Front Cell Infect Mi. 2024;14. doi:10.3389/ fcimb.2024.1377012 3. Yaqub MO, Jain A, Joseph CE, Edison LK. Microbiome-driven therapeutics: From gut health to precision medicine. Gastrointestl Disord. 2025;7(1):7. doi:10.3390/gidisord7010007 4. Shokralla S, Spall JL, Gibson JF, Hajibabaei M. Next‐generation sequencing technologies for environmental DNA research. Mol Ecol. 2012;21(8):1794-1805. doi:10.1111/j.1365- 294x.2012.05538.x 5. Farkas K, Williams RC, Hillary LS, et al. Harnessing the power of next-generation sequencing in wastewater-based epidemiology and global disease surveillance. Food Environ Virol. 2024;17(1). doi:10.1007/s12560-024-09616-0 6. Rawlence NJ, Knapp M, Martin MD, Wales N. Editorial: Applied uses of ancient DNA. Fronti Ecol Evol. 2021;9. doi:10.3389/fevo.2021.679489 Genetics and rare diseases Since then, a wide range of genes have been identified as the causes of rare diseases, including one recent landmark study that identified 69 previously unidentified causative genes. 69 In 2010, Miller syndrome became the first rare disease to have its genetic origin solved by NGS. A mutation in the DHODH gene was identified, which is involved in the synthesis of the nucleic acids cytosine, thymine and uracil. Around 80% of rare diseases are genetic in origin and can take 4–8 years to be accurately diagnosed. NGS has improved the discovery of causative genes associated with genetic rare diseases. 70% Soil health can be managed through examination of its bacterial or fungal content, while environmentally destructive pathogens decimating species such as honeybees and tomatoes have been identified, allowing the development of better protections.4 NGS is increasingly used to study water quality and perform wastewater‑based epidemiology, in which wastewater is monitored to evaluate disease burden and predict outbreaks.5 The microbiome NGS-led comprehensive genomic analysis can profile the genome of whole tumors, allowing genomically matched treatment strategies and improved survival. Assessing levels of recently discovered liquid biomarkers such as variant allele frequency with NGS makes for easy, non-invasive monitoring of treatment and disease progression. Environmental sciences NGS has a wide range of applications in environmental sciences, including: • Identifying unknown microbial species in extreme environments • Analyzing biodiversity to assess the health of an ecosystem • Assessing diet and microbiota of threatened species in order to inform conservation strategies. Sponsored by: