TruSight blog

Yesterday Illumina released their clinical research NGS kits called TruSight.
TruSight: There are currently five kits in development, Cancer, Autism, Cardiomyopathy, Inherited disease and Human Gene Mutation Database Exome. Custom kits are sure to follow. Kits are designed to run on MiSeq ad the lab workflow is based on Exome capture protocols recently released as a new product from Illumina.

Combining Nextera with TruSeq (or any other) capture was a smart move (see a previous post on this blog). The simplicity of the library prep much better fits labs than the more complex standard adapter-ligation protocol. In the tests we did in my lab when we first tried the kits we found there was enough library from a 50ng input to sequence a small capture kit (TruSight for instance) and still have enough left over to capture an exome or possibly even sequence the whole genome.

GeneSight: Illumina also announced a partnership with Patners Healthcare on the GeneSight software. Aiming to make this the tool clinical researchers, medical geneticists and pathologists use for analysis. GeneSight is ready for MiSeq data, BaseSpace and the iPad MyGenome app, and is already FDA registered. It should be possible to provide a workflow from sample prep, through sequencing all the way to final analysis and interpretation. The press release mentions that geneSight has been used for over 24000 tests. If this takes off then expect to see graphs similar to ones showing how NGS yield has increased, but for the number of patients reported on by the MiSeq TruSight combo!

Geneinsight has been around since 2005 (this is a good paper describing it) and aims to help with data analysis is several ways. It acts as a repository for data in the form of case histories and variant information. It facilitates clinical reporting. And it will update clinicians as new variants become clinically relevant. This last feature is likely to cause some headaches as patients may need to be told their prognosis has changed based on new information. The GeneInsight network also allows labs to share results and new findings increasing the ease with which variants might be understood to be clinically relevant.

Most of us are going to have to wait though. As is all too often the case with launches like this we have the information on how exciting this is going to be but no release date. A few pilot sites and Illumina’s own CLIA labs will be the first to access the package.

Competition within Illumina: TruSight will go hand-in-glove or head-to-head with the TheraSeq product Illumina recently made a pre-release announcement about. TheraSeq uses the TruSeq custom amplicon approach to target small numbers of clinically relevant genes, see a TheraSeq overview for more details. Currently in development are kits for Non-small cell lung cancer, Advanced metastatic disease and Gastrointestinal stromal tumor. It will work from FFPE tissue and again is likely to run on MiSeq.

If you want to steer Illumina's clinical developments then why not take the survey on the TheraSeq page? One of the interesting questions relates to the size of test panels asking if responders prefer small or large panels, and whether these should be dictated by current standard-of-care or expand beyond it. They also ask for opinions on returning variants of unknown significance. Both hot topics in diagnostic panel discussions.

Also on the TheraSeq page is a link to an overview of Cancer research papers that used Illumina technology.

Summary: Illumina, and all the other NGS companies, know how important clinical is going to be in their future growth. This is unlikely to be just through instrument, consumable and test kit sales. Service provision could be an important revenue generator and this is likely to put Illumina into direct competition with the people they are selling to today. Although according to GenomeWeb Matt Posard said that “Illumina does not intend to offer its TruSight assays as a diagnostic service, because that would compete directly with its customers.