When UCSF's Charles Chiu was tapped by the CDC to sequence viral strains from throughout the state, he knew he needed more capacity.
With the help of Illumina NextSeq 550 and reagents, Dr. Bedford was able to identify one of the first COVID-19 clusters in the US.
Illumina has developed two workflows to detect and track SARS-CoV-2 from clinical samples.
Next-generation sequencing (NGS) has the unique ability to support scientists, researchers, public health officials and health care professionals on the front lines. It helps us understand transmission routes, comorbidities, mutation rates, serves as a foundation for vaccine development and therapies, and ultimately helps predict and prevent future outbreaks.Learn More from CMO Phil Febbo
We believe access to the best technologies, global networks, and genomic insights are crucial to stop this pandemic and keep it from coming back. This is why we work with researchers, the CDC, the Chinese CDC, the NIH, GISAID, Stanford, the Broad Institute, and more to make sure they have the genomic and sequencing support they need to succeed.Read COVID-19 Stories
We are a global company championing the greater good, committed to supporting COVID-19 efforts around the world. We are proud to partner to fund the Africa Centre of Excellence for Genomics of Infectious Diseases as well as the Milken Institute to develop global surveillance networks.Read COVID-19 Stories
With our decades of experience, vast global reach, support across countries and languages, as well as data transparency, we are afforded a humbling opportunity to quickly connect and support local and global resources to fight this pandemic across the world.
|Detect Novel Virus||Detect SARS-COV-2 and Diagnose COVID-19||Detect Co-Infections and Monitor Viral Evolution||Detect Patient Immunity|
|Testing Needs||Metagenomics||PCR/qPCR||Amplicon Illumina COVIDSeq Test||Targeted Enrichment Respiratory Virus Oligo Panel||Serology|
|Speed and TAT|
|Scalable and Cost Effective|
|Identification of Novel Pathogen|
|Unaffected by Mutational Changes|
|Identify Co-Infection and Complex Disease|
|Identifies Pathogens Present at Low Levels in Samples With High Background|
Adequately meets laboratory testing needs based on phase of outbreak
Partially meets laboratory testing needs based on phase of outbreak
A shotgun metagenomics sequencing workflow for effective detection and characterization of coronavirus strains.Read Application Note
Effective detection of coronavirus using a comprehensive targeted enrichment worklflow.Read Application Note
A resource guide for detection and full genome sequencing of SARS-CoV-2 and a broad spectrum of respiratory viruses.Read Customer Guide
Partnership aims to accelerate NGS adoption for clinical infectious disease testing.Read the Article
At a basic level, diagnostic testing helps clinicians manage patients and surveillance is required to manage populations.
Diagnostic testing provides important yes/no answers for individual patients so that appropriate management can be provided.
Surveillance helps public health officials track the path of the epidemic, understand transmission routes, perform contact tracing, determine the rate of viral evolution, and understand if the virus is changing in ways that could impact diagnostic or therapeutic effectiveness.
Very early in an outbreak, when traditional methods such as culture, PCR/qPCR or ELISA are unable to identify a pathogen causing illness in the first cluster of patients, NGS plays a criticalc role in identification of the novel pathogen. Once the pathogen is identified and the genome is shared publicly, diagnostic tests (PCR) can be developed based on the pathogen’s genomic sequence to help clinicians manage patients.
After pathogen identification, NGS continues to play an important role by providing public health officials, vaccine and drug developers, and researchers with critical evidence that enables:
NGS can provide unbiased detection of a novel pathogen in patient samples without prior knowledge of the organism.
A key challenge in infectious disease detection is that many of the microbes, including viruses, that cause respiratory, digestive, and other diseases in humans, have not been researched and characterized and thus are not known or detected by targeted approaches, such as PCR, the development of which require knowledge of the pathogen genome. NGS plays a critical role in discovering these unknown, novel pathogens and the resulting genome sequence can then be used to develop routine tests such as PCR to help clinicians manage patients.
NGS can be used to track the evolution of the pathogen genome to help public health officials monitor the spread of infection and determine the best isolation plan at a population level. Sequencing the virus from different patients over time can determine the rate of viral evolution and understanding if the virus is changing in ways that could impact pathogenicity as well as diagnostic or therapeutic effectiveness. PCR is designed to detect the presence of specific regions of the pathogen genome and will not identify new mutations across these rapidly evolving pathogen genomes. Furthermore, PCR performance can suffer if mutations occur in the primer or probe binding regions.
Epidemiologists study the mutations of the viral genome from patient samples across the globe and can use this information to build a genetic tree (or map) that can indicate the path of transmission between patients. Clusters due to genetic similarities in the pathogen belong to patients within the same transmission chains. These transmission chains enable public health officials to quickly determine the pathogen origin, track the path of the epidemic, understand transmission routes and inform appropriate containment measures.
A shotgun metagenomic workflow enables detection of both novel and known species. When faced with an unknown outbreak, multiple molecular diagnostic tests are often used which may lead to unnecessary cost and delays in identifying the pathogen. Shotgun Metagenomics can be used as a single comprehensive screening test for identifying and characterizing pathogens. This research workflow can help accelerate outbreak investigations and support development of new laboratory tests for large scale screening efforts.
Once a pathogen, such as SARS-CoV-2 is identified, a target enrichment workflow can provide the high sensitivity needed to detect the virus and provide information about its epidemiology and evolution to help researchers optimize infection control strategies including monitoring when its acceptable to de-escalate isolation mechanisms and resume normal activities, and aid in the development of vaccines.
These complementary workflows using Illumina sequencing can be performed alongside traditional testing methods and integrated into a comprehensive outbreak response model.
Illumina has made several solutions available for SARS-CoV-2 detection and analysis.
To support researchers with the analysis and sharing of genomic data related to the severe acute respiratory syndrome coronavirus outbreak, Illumina has released the Illumina SARS-CoV-2 NGS Data Toolkit – a new suite of data analysis tools for researchers working with the virus. These tools make it simpler for researchers to detect and identify the SARS-CoV-2 viral sequence in their samples and contribute their findings to critical public databases.
For users looking to generate clinical reporting of SARS-CoV-2 detection in symptomatic patients (under EUA) or detection of SARS-CoV-2 in research or evaluation settings (RUO and PEO), the DRAGEN COVIDSeq test pipeline is used in conjunction with the Illumina COVIDSeq test.
For users looking to generate clinical reports for shotgun metagenomics or for the respiratory virus oligo panel, Illumina's partnership with IDbyDNA delivers simple, powerful bioinformatics software to turn the data generated by our sequencers into actionable insights.
IDbyDNA’s proven, automated Explify platform analysis supports the detection of 35 respiratory viruses, including genomic characterization of SARS-CoV-2. Contact IDbyDNA Client Services at 833-397-5439 or email@example.com to learn more.
|DRAGEN COVIDSeq Test Pipeline on DRAGEN Local Server or DRAGEN COVIDSeq Test App on BaseSpace Sequencing Hub||
|DRAGEN RNA Pathogen Detection||
|GISAID Submission App||
Identification & Detection
There are 7,800 probes to detect common respiratory viruses, recent flu strains, and SARS-CoV-2 as well as human probes to act as positive controls. These probes are 80-mer oligos, spaced very close together providing full genome coverage of all viruses in the panel. Table of viruses in the panel:
Target enrichment is a resequencing method that captures genomic regions of interest by hybridization to target-specific biotinylated probes. Target enrichment through hybrid–capture methods allows for highly sensitive detection and therefore does not require high read depth. Additionally, the target enrichment NGS workflow allows for near-complete sequence data of targets and opens up applications such as variant analysis for viral evolution or viral surveillance.
Alternatively, amplicon sequencing is designed to detect the presence of the target pathogen in a sample by identifying specific regions of the pathogen genome. This method does not enable identification of new mutations across these rapidly evolving pathogen genomes which is required for viral evolution or viral surveillance studies.
The target enrichment NGS workflow allows for near-complete sequence data of targets and opens up applications such as variant analysis for viral evolution or viral surveillance. Compared to other targeted resequencing methods, such as amplicon sequencing, enrichment through hybrid capture allows for dramatically larger probe panels with more comprehensive profiling of the target regions. Additionally, the oligo probes used for hybrid–capture protocols remain effective, even within highly mutagenic regions, which can be difficult for amplicon-based assays such as qPCR, allowing targeting of rapidly evolving viruses, such as RNA viruses.
When traditional methods such as culture, PCR/qPCR or ELISA are unable to identify the pathogen causing the illness, Shotgun Metagenomics (mNGS) is a sequencing method that comprehensively examines all organisms present in a given complex sample to enable researchers to identify the novel pathogen causing the disease, like SARS-CoV-2.
Beyond merely detecting viral particles, Shotgun Metagenomics can provide the full genome sequence of pathogens like SARS-CoV-2 virus at high titer to help accelerate outbreak investigations.
By identifying known and novel pathogens in a sample (virus + bacteria + fungal), researchers can use this information to study and identify co-infections associated with a target pathogen like SARS-CoV-2.
Once the pathogen has been identified, amplicon can provide cost effective, rapid, and scalable detection of SARS-CoV-2. When used as a general whole genome sequencing diagnostic approach, it allows for broader target coverage, making it less susceptible to mutational effects. For research, whole genome sequencing can be used to monitor viral mutations and allows phylogenetic analysis.
Once the pathogen has been identified, the viral enrichment panel provides high sensitivity detection coupled with epidemiology information by detecting the full SARS-CoV-2 genome and the genomic mutations found across different samples. This information helps define the epidemiology of transmission and public officials can optimize infection control strategies.
When used with Illumina’s Respiratory Virus Oligo Panel, detection is expanded to ~30 families of respiratory viruses and allows researchers to study and identify co-infections with other viruses in the panel.
The Illumina COVIDSeq Test is the first NGS test to receive emergency use authorization (EUA) from FDA to be used in the U.S. for detection of SARS-CoV-2 and diagnosis of COVID-19 in symptomatic patients.
COVIDSeq has not been FDA cleared or approved. This test is authorized by FDA under an EUA for the duration of the declaration that circumstances exist justifying the authorization of emergency use of in vitro diagnostics for detection and/or diagnosis of COVID-19. COVIDSeq is only authorized for use in laboratories in the U.S., certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA), 42 U.S.C. §263a, to perform moderate and high complexity tests.Learn More about the Illumina COVIDSeq Test (EUA)
We offer a Performance Evaluation Only (PEO) version of the Illumina COVIDSeq Test for European countries regulated by CE-IVD, and a Research Use Only (RUO) version for other countries outside of the U.S. These products can be used for detection of SARS-CoV-2 in research settings.Learn More about the Illumina COVIDSeq Test (RUO and PEO versions)
This library prep kit is a robust, highly scalable whole-transcriptome analysis (RNA-Seq) solution for a variety of species and sample types.
The stand-alone Illumina Ribo-Zero Plus kit allows for ribosomal RNA removal in human, mouse, rat, and bacterial samples.
Groundbreaking benchtop sequencers allow you to explore new science across a variety of current and emerging applications, with higher efficiency and fewer restraints.
The iSeq 100 system leverages the speed and affordability of complementary metal-oxide-semiconductor (CMOS) technology and the accuracy of sequencing by synthesis (SBS) chemistry.View Product
The MiSeq benchtop sequencer enables targeted and microbial genome applications, with high-quality sequencing, simple data analysis, and cloud storage.View Product