Illumina, Inc. has announced five initial TruSight content sets for use in next-generation sequencing (NGS) in laboratory settings. Designed by recognized experts at leading institutions, the content sets offer cost-effective, streamlined, targeted sequencing for specific genetic diseases or conditions.
Customers can immediately leverage this content to develop their own tests, and in the first half of 2013 will have the additional capability to augment the sets with custom content.
These products, developed in conjunction with leading healthcare experts including Children's Mercy Center for Pediatric Genomic Medicine, Kennedy Krieger Institute, The Institute of Cancer Research, London, and Partners HealthCare (see additional Illumina-Partners HealthCare news today), are designed to provide comprehensive evaluation of genes associated with the following:
• 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 HGMD® (Human Gene Mutation Database).
"The launch of these new NGS products is an exciting milestone for Illumina," said Jay Flatley, President and Chief Executive Officer for Illumina.
Flatley continued, "We worked closely with the community to develop and introduce these first content sets, to ensure we are meeting the needs of laboratories and to enable results of high quality. Combining this content with already proven Illumina next-generation sequencing technology, via the MiSeq® platform, will provide a powerful tool."
TruSight content sets are comprised of oligo probes that target specific genes and regions relevant to specific diseases or conditions. They are designed for use by laboratories in the development of their own unique targeted sequencing tests and will work on Illumina's MiSeq system.
Additionally, new Nextera Enrichment kits and MiSeq kits will support lower sample throughput options.
"We are very excited about the value of the new content and how accessible it will be to laboratories," said Dr. Stephen Kingsmore, Director, Children's Mercy Center for Pediatric Genomic Medicine, in Kansas City, Mo. "Deploying this expert content on Illumina's proven technology streamlines a lab's operational efficiency and speed to results. Ultimately, we hope to improve patient care. That's the true goal."
Added Matt Posard, Senior Vice President and General Manager of Illumina's Translational and Consumer Genomics business, "Today, Illumina also announced a strategic alliance with Partners HealthCare to introduce next-generation sequencing clinical interpretation and reporting tools, via their GeneInsight® Suite platform. The combination of TruSight products and these new interpretation and reporting tools is a major step forward in realizing the benefits of next generation sequencing."
TruSight content sets are for research use only and not intended for diagnostic use. The products are now available for order with shipment to begin in Q4 2012.