Next-generation sequencing (NGS) technologies are advancing the field of genomics, enabling rapid analysis of DNA and RNA sequences. Multiple studies show these cutting-edge tools are revolutionizing how health care providers decipher the genetic makeup of diseases and tailor treatments to individual patients. The implications are profound, promising a future where medical care is more precise and effective.
NGS technologies through the ages
NGS technology advancements comprise advanced systems capable of reading longer genome sequences in a shorter time frame. For example, the 454 Genome Sequencer FLX sequenced the human genome in two months, whereas the Sanger process took 15 years and combined data from multiple facilities.
More reliable results
Enhanced accuracy marks another critical milestone in the evolution of NGS applications. Several historical methods presented 10%-20% error rates, enough to skew outcomes and generate misleading results.
Precision medicine enables personalized interventions tailored to each patient’s unique genetic makeup.
Over the last two years, significant improvements have been made in this regard. Advanced short-read sequencers are on track to achieve the Q40 standard, which designates one error in 10,000 bases.
Industry leaders Element Biosciences’ AVITI and PacBio’s Onso routinely achieve these accuracy levels. These standards enable NGS systems to detect rarer genetic variants in cancer diagnoses. Q100 is the long-term goal, but the transition will require smarter, more powerful computers that are currently not mainstream.
Long-read sequencing advancements
New technologies for longer reads are expanding the scope of lengthier sequencing configurations. In 2023, manufacturing giant Illumina announced the completion of its Complete Long Read sequencing kit, capable of yielding > 10 kb read lengths for optimized workflows.
This development will spur further advancements in short-read and long-read sequencing, contributing to the systems’ affordability and accessibility.
Applications in precision medicine
Precision medicine harnesses NGS technologies to analyze genomes, transcriptomes and epigenomes.
Genome studies reveal genetic variations linked to disease susceptibility and treatment response. Transcriptome analyses uncover gene expression patterns, guiding targeted therapies based on individual molecular profiles. Epigenomic research unveils chemical modifications influencing gene activity, providing insights into disease mechanisms and treatment resistance.
Integrating these analyses in precision medicine enables personalized interventions tailored to each patient’s unique genetic makeup, improving treatment outcomes across the following applications.
Cancer treatment
NGS plays a pivotal role in identifying genetic mutations driving cancer growth. These systems analyze large-scale genomic data, allowing researchers to identify drug resistance in treatments and modify strategies accordingly.
Rare disease diagnoses
Whole exome sequencing through NGS systems accelerates the diagnosis of rare disorders by pinpointing specific genetic aberrations. These complex diseases affect around 3.5%-5.9% of the global population, making their identification a public health imperative.
Hearing loss prevention
A recent study by Spanish scientists highlights the promising application of NGS-based gene panel testing for the early detection of hearing loss in children. The team recorded a 34% genetic component diagnosis from tests involving 155 individuals.
Infectious disease surveillance
NGS is instrumental in tracking infectious disease outbreaks by sequencing pathogen genomes. This real-time genomic surveillance enhances disease control strategies and treatment development. During the COVID-19 pandemic, NGS was used to monitor viral evolution, develop mRNA/DNA-based vaccines and inform public health responses.
NGS technologies market outlook
The global NGS market is projected to experience significant growth, driven by increasing demand for personalized medicine and advancements in genomics research.
Expanding applications in oncology and infectious diseases are driving exciting career opportunities in health care and related industries. Professionals skilled in bioinformatics, genomics, molecular biology and data analysis will continue to be in high demand. According to GlobalData research, demand for NGS solutions is rising, with unit sales growing by over 40% from 2021 to 2022. This extension is expected to lower the cost of genetic testing as more products hit the market, accelerating the transition to more tailored treatments.
NGS technologies are expanding the frontiers of precision medicine
The rapid growth of NGS technologies reflects the transformative impact of genomics on health care. With increasing adoption across diverse sectors, these systems are poised to transform precision medicine, driving disease diagnosis, treatment and prevention innovations.
__
Sign up for our newsletter to get the latest innovation news and more sent straight to your inbox.
Ellie is a freelance writer as well as an associate editor for Revolutionized. When she's not writing about the latest advancements in science and technology, you can find her playing video games and spending time with husband and their cat.
