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Illumina Launches Fast Clinical Sequencing, Data Sets, Clinical Alliance


By Bio-IT World Staff 

September 11, 2012 | Illumina announced several advancements in clinical genomic sequencing today including Individual Genome Sequencing (IGS) service, a strategic alliance with Partners HealthCare, and five content sets to provide comprehensive evaluation of genes associated with specific disease area.  

Illumina’s whole genome sequencing services were announced in June using the HiSeq 2500 platform. Now the same rapid turnaround—as little as two weeks—is available in Illumina’s CLIA-certified laboratory. The IGS service is only available through a physician’s order and is designed to assist clinicians with diagnosis and treatment decisions. 

Initially, the rapid turnaround option is available with limited capacity, and cases will be prioritized by severity in consultation with ordering physicians. Later this year, Illumina will begin offering focused clinical interpretation for CLIA services, working closely with ordering physicians and leveraging bioinformatics tools and internal medical genetics expertise. 

Partners Alliance 

The MiSeq sequencing system is the subject of Illumina’s alliance with Partners HealthCare. The alliance will offer infrastructure and networking tools to medical geneticists and pathologists. Illumina’s MiSeq and Partners’ GeneInsight Suite will serve as the foundation for a comprehensive sequencing and clinically relevant reporting solution.  

The new tools will link to Illumina’s BaseSpace cloud computing platform and the MyGenome app for iPad, as well as to a clinical lab’s local laboratory information system. The solution creates a seamless workflow, starting on the MiSeq and delivering results directly into the GeneInsight tool, allowing laboratory personnel to interpret data accurately and with confidence. 

“This alliance highlights our commitment to a collaborative model that will establish the new standard in NGS clinical-based applications and enable a truly integrated, high-quality solution,” said Matt Posard, SVP and general manager of Illumina’s Translational and Consumer Genomics business in a press release.  

The combined MiSeq-GeneInsight solution will initially be released to a limited number of pilot customers in the clinical testing space including a select group of reference laboratories within leading academic institutions, molecular and genetic pathology laboratories looking to bring next-generation-based genetic testing in-house, and commercial reference laboratories. 

TruSight Content Sets 

Partners HealthCare and other collaborators also helped develop five content sets announced today for cost-effective, streamlined, targeted sequencing for specific genetic diseases or conditions.  

The TruSight content sets are comprised of oligo probes that target genes and regions relevant to specific diseases or conditions and will work on the MiSeq system. The content is now available for order (shipping to begin in Q4 2012) for customers to use to develop their own tests. In the first half of 2013, customers will have the additional capability to augment the sets with custom content. 

In a press release, Illumina president and CEO Jay Flatley called the TruSight sets, “an exciting milestone for Illumina.” He continued, “Combining this content with already proven Illumina next-generation sequencing technology, via the MiSeq platform, will provide a powerful tool.” 

The content sets evaluate genes associated with a range of conditions:  

  • TruSight Autism used for the evaluation of autism, a condition affecting about 1 in 88 children; 
  • TruSight Cancer assists in identifying genetic causes of cancer and includes genes associated with common (e.g. breast, colorectal cancer) and rare cancers; 
  • TruSight Cardiomyopathy assists in identifying inherited causes of cardiomyopathy; 
  • TruSight Inherited Disease focuses on severe, recessive pediatric onset diseases; and 
  • TruSight Exome targets rare genetic diseases that affect as many as 10 million people per year worldwide, with content from the Human Gene Mutation Database. (see, The State of Mutation Curation

The products were developed in conjunction with leading health care experts including Children’s Mercy Center for Pediatric Genomic Medicine, Kennedy Krieger Institute, The Institute of Cancer Research, London, and Partners HealthCare. 

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