A blanket term, next generation sequencing (NGS) covers any number of automated techniques that laboratory researchers employ to identify the precise chemical sequence of DNA or RNA. Since coming of age around 2007, NGS has dramatically reduced the time needed to sequence nucleic acid and identify genes that are associated with cancer and other serious diseases.
Over the past 15 years, next generation sequencing has improved by leaps and bounds in terms of speed, ease, cost, and accuracy. Consider the following brief overview by Alex Cabral of Harvard University. Completed in 2003, the Human Genome Project (HGP) 13 years to produce the first map of human DNA in its entirety. The total price tag on the HGP came to just under a billion dollars. Thanks to next generation sequencing, today’s researchers can achieve the same feat in less than two days for roughly a thousand dollars.
Many of the innovations in NGS have been driven by its enormous potential in the field of oncology. However, a depth of further genetics work remains to be done in order to address the ravages of cancer.
Kathy Liszewski, a contributor to the genetic engineering and biotechnology news source GEN, highlights the large number of cancer-causing genes that have yet to be identified. The difficulty of discovering these genes is compounded by the fact that one-to-one relationships rarely exist between specific genetic mutations and the development of specific malignant tumors. In fact, most forms of cancer arise as a result of multiple cancer-causing genes.
Fortunately, the latest NGS tools are proving powerful weapons in the fight against cancer. By integrating automated workflows into next generation sequencing, researchers can now identify comprehensive genomic profiles in less than a day and generate staggering amounts of genetic data that relate to oncology.
In addition to its extreme efficiency, NGS tackles another problem that is all too common in the world of laboratory research: insufficient sample size. For decades, the clinical evaluation of patient samples has been severely impeded due to the sheer amount of genetic material that researchers need to complete complex multianalyte assays that analyze two or more biochemical markers at the same time.
Overcoming the limitations of sample size has become a key goal of Thermo Fisher Scientific and its Global Head of Medical Affairs, Clinical Next Generation Sequencing, and Oncology, Luca Quagliata. Quagliata explains, quite succinctly, that lower sample input requirements are essential for the rapid development of future cancer treatments.
In addition to functioning with minimal genetic starting material, Thermo Fisher Scientific’s new Torrent Genexus System is the first fully automated NGS technology platform to provide results in less than 24 hours. Quagliata praises this automated NGS platform for its ability to complete tedious and time-consuming tasks, such as preparing and processing samples, without human intervention.
Specific tasks performed by the latest automated NGS platforms range from patient cell harvesting to sample staining and slide formulation. This leaves researchers free to concentrate on more important matters, such as analyzing the data that sample processing produces and finding advanced applications for their promising scientific research.
In areas that range from cytogenetics automation to optical genome mapping, advancements in NGS have made genetic therapeutics more effective, less time-consuming, and cheaper for cancer patients and the oncology professionals that treat them. NGS systems that integrate with automated workflows can juxtapose the results of genetic testing with data, such as the clinical and demographic patient information, to power specific diagnostic or prognostic algorithms.
In short, next generation sequencing is driving the next generation of disease prevention, diagnostic tools, treatment decisions, and outcome assessments for oncologists and other medical professionals.