Next generation sequencing (NGS) is the new technology in DNA sequencing, where millions of DNA and RNA fragments are sequenced at the same time. It can therefore sequence entiregenomes, exomes, or targeted panels quickly and at scale.
It is several times faster than the traditional Sanger sequencing, which can only read one DNA fragment at a time. With NGS, the entire human genome can be sequenced in an entire day whereas the Human Genome Project took around 12 years to complete.
Because it produces accurate and quick results, NGS has become essential in modern diagnostics, life sciences, and personalized medicine. For commercial teams selling into hospitals, reference labs, and pathology groups, understanding how NGS works — from sample prep to data interpretation — is critical.
This guide explains what NGS testing is, how does NGS work, and where it’s being applied in clinical practice. It also explores major players in the NGS ecosystem and how platforms like Nexus and Voyager help commercial and lab teams translate genomic trends into actionable strategies.
An image showing false color of the DNA strand. NGS testing reads the genomic sequence of a DNA strand several times faster than first-generation methods
Learn What is NGS Testing Is and Its Clinical Applications in this Blog
Next-generation sequencing (NGS) is a set of technologies that sequence millions of DNA or RNA fragments in parallel. Unlike traditional Sanger sequencing, which reads a single fragment at a time, NGS can sequence fragments or entire genomes quickly and at scale. Because NGS produces quick results, it is an essential tool for laboratories and research centers doing DNA research.
Who are the institutions that need NGS?
Common use cases for NGS in healthcare include:
- Tumor profiling and precision oncology
- Rare disease and inherited disorder testing
- Pathogen surveillance and infectious disease genomics
- Prenatal and reproductive genetic testing
- Pharmacogenomics and drug response analysis
NGS testing has become a foundation for clinical diagnostics and biopharma R&D. As genomic data grows, so does the need for infrastructure to organize and analyze it. Nexus helps labs manage de-identified genomic datasets, identify patient cohorts, and collaborate securely with partners — without writing a line of code.
How Does Next Generation DNA Sequencing Work?
Although the process itself is highly technical, we’ll try to explain the process of NGS in simple terms. The process largely follows the key steps:
- Sample Collection and DNA extraction – DNA or RNA is extracted from biological samples like blood, saliva, or tissue biopsies.
- Library Preparation – Genetic material is fragmented and attached to specialized adapters for sequencing.
- Amplification – The individual fragments are grouped together in clusters and cloned many times (often using PCR), amplifying the DNA that enhances detection sensitivity.
- Sequencing – Now the DNA strand receives identical copies of nucleotides with unique fluorescent labels. The labels emit light when excited by a laser. That allows a sequencing machine to read DNA sequences. Because of the sheer number of information in each DNA strand and since it reads millions of sequences in parallel, sequencing machines are typically specialized, powerful computers. Sequencing machines, such as those Illumina’s NovaSeq or PacBio’s Revio — can analyze nucleotide sequences of thousand to a million DNA fragments at a time.
- Data Analysis – Bioinformatics tools align reads to a reference genome, identify variants, and generate interpretable results for clinicians and researchers.
Since it processes in parallel and can work on many DNA samples, NGS testing laboratories produce enormous volumes of structured and unstructured data.
Our Nexus technology enables these labs to standardize and monetize these data through a secure, drag-and-drop cohort builder. Access to Nexus technology, for example, helps parties looking for very specific DNA sequences have an easier time looking for laboratories working on those sequences.
Who are the Major Players in Next Gen Sequencing Technology?
The NGS market is dominated by a handful of companies offering complementary platforms, reagents, and analysis tools:
Illumina
Market leader in short-read sequencing. NovaSeq and NextSeq platforms are common in high-throughput clinical labs.
Thermo Fisher Scientific
Offers the Ion Torrent platform, widely used in oncology and rare disease panels.
PacBio (Pacific Biosciences)
Specializes in long-read sequencing with HiFi chemistry, ideal for structural variant detection.
Roche
Provides AVENIO panels and liquid biopsy solutions focused on oncology.
Qiagen
Offers library prep kits, panels, and analysis software for targeted sequencing applications.
Agilent Technologies
Known for SureSelect hybrid-capture panels used in cancer and hereditary disease testing.
Each vendor supports specific clinical and research workflows — from tumor profiling to infectious disease surveillance — and many hospitals and labs use multiple platforms in parallel.
Clinical Applications of NGS Testing
Here are the health niches or industries that benefit the most with NGS. A lot of them are involved in targeted treatments and genomics:
- Precision Oncology and Tumor Profiling
NGS panels identify mutations like EGFR, BRAF, and TP53, helping clinicians match cancer patients to targeted therapies. Illumina and Thermo Fisher platforms are widely used in molecular pathology labs.
- Infectious Disease Genomics
NGS enables real-time pathogen tracking, strain typing, and outbreak investigation. During COVID-19, labs used PacBio and Illumina to monitor viral mutations — and this role has expanded to flu, RSV, and AMR surveillance.
- Rare Disease and Inherited Disorders
Exome and genome sequencing help uncover the genetic basis of undiagnosed diseases. Long-read platforms enhance detection of repeat expansions, copy number changes, and complex variants missed by short reads.
- Reproductive Genetics and NIPT
NGS powers non-invasive prenatal testing (NIPT), carrier screening, and embryo analysis in IVF. Roche and Illumina have developed validated assays for widespread clinical adoption.
Using Voyager to Identify NGS Testing Customers
Having knowledge of interest parties actively using NGS helps commercial teams focus their outreach. Now you can find these specialists with Voyager, a healthcare sales intelligence platform that maps health industry experts and laboratories at scale.
Using Voyager, commercial leaders can:
- Identify hospitals and labs running NGS-based tests in oncology, genetics, or prenatal care
- Segment accounts by platform usage (e.g., Illumina vs. PacBio) or test type
- Spot buying signals for sequencers, reagents, or software
- Monitor trends in lab test volumes and vendor adoption over time
For diagnostic manufacturers, reagent suppliers, and bioinformatics vendors, Voyager simplifies the process of finding high-intent buyers in a complex market.
External Resources
Introduction to NGS
Illumina https://emea.illumina.com/science/technology/next-generation-sequencing.html
What is Next-Generation Sequencing (NGS) Technology?
ThermoFisher Scientific https://www.thermofisher.com/ph/en/home/life-science/sequencing/sequencing-learning-center/next-generation-sequencing-information/ngs-basics/what-is-next-generation-sequencing.html
Next-Generation Sequencing Technology: Current Trends and Advancements
Biology (Basel). 2023 Jul 13;12(7):997. doi: 10.3390/biology12070997 https://pmc.ncbi.nlm.nih.gov/articles/PMC10376292/
A brief history of Next Generation Sequencing (NGS)
Frontline Genomics https://frontlinegenomics.com/a-brief-history-of-next-generation-sequencing-ngs/
Published: July 2025
FAQs About NGS Testing
What does NGS testing detect?
NGS can detect single nucleotide variants (SNVs), indels, copy number variants (CNVs), structural rearrangements, gene fusions, and even microbial genomes — all from a single assay.
How do I explain NGS to a non-scientific stakeholder?
Think of NGS as scanning an entire book at once to look for typos or missing pages, instead of reading it line by line. It gives a high-resolution view of the genome quickly and cost-effectively.
Who buys NGS technology?
Hospitals, reference labs, academic medical centers, and public health labs are the main buyers. These groups purchase sequencers, reagents, bioinformatics tools, and data management solutions.
What’s the difference between short-read and long-read sequencing?
Short-read platforms like Illumina offer high throughput and affordability but may miss complex regions. Long-read platforms like PacBio provide more complete and accurate reads for difficult-to-sequence areas.
How long does it take to get NGS test results?
Turnaround times vary from 2 to 14 days depending on the lab, platform, and test type.
