The How And When Of Applying Sequencing To Clinical Diagnostics

Article preview from In-Vivo- September 01, 2010

Gene sequencing instrument providers are currently at the center of a range of corporate activities: acquisition, partnering, financing. As technology innovation continues, costs decrease, and the pace and scope of clinical genomic studies picks up, the notion of sequencing as the foundation for a clinical diagnostics platform is gaining more support. Delivering value to diagnostics customers ultimately may demand that instrument providers move downstream, involving themselves in data analysis and workflow and even test development, to prime the clinical market.

The How And When Of Applying Sequencing To Clinical Diagnostics

Article preview from In-Vivo- September 01, 2010

As technology innovation continues and the pace and scope of clinical genomics studies increases, the notion of sequencing as the foundation for a clinical diagnostics platform is gaining more support.

• Gene sequencing instrument providers are continuing their march into the next generation of technological innovation.

• Although aimed initially at the research market, these instruments could eventually find their way into routine clinical use.

• Some of the more forward-thinking developers of gene expression-based molecular diagnostics tests are already thinking of switching to a sequencing-based platform.

• Delivering value to diagnostics customers ultimately may demand that instrument providers move downstream, involving themselves in data analysis and workflow and even test development, to prime the clinical market.

Seemingly all at once, gene sequencing instrument providers are at the center of a range of corporate activities: acquisition, partnering, financing. In large part, the interest stems from a long-felt sense of inexorability about the declining costs of next- and third-generation sequencing technologies – and in many camps, even that the accuracy and reproducibility of sequencing results will at some point be commensurate with the standards needed for clinical diagnostics. There's also an awareness of the incredible speed at which this technological innovation is happening; hence the deal-making.

Like most life science tools, sequencing initially was aimed at the research community as a discovery tool. But the pace of clinical genomics studies is increasing and their scope widening into more disease areas. As data emerge – mostly in cancer to this point – showing that sequence data can help guide clinical decision-making, and coupled with the evident decrease in costs, the belief in sequencing as the foundation for a clinical diagnostics platform is gaining more support. "In five years, maybe a third to half our business will be in clinical applications," says Jay Flatley, president and CEO of Illumina Inc.

At a Consumer Genetics conference in Boston in June 2009, Flatley introduced Illumina's Personal Genomic Sequencing Service, which provided an opportunity, as other companies have as well, for individuals to obtain their genome sequence – and in this case, then arrange with third parties to interpret the data. ( See "Illumina Goes Consumer," IN VIVO , June 2009 [2009800118].) He stayed away from any implications for the medical utility of that information, however, and although that meeting included discussion of the clinical relevance of sequence data, as befit its title, much of the talk had to do with marketing issues and nonmedical presentation of sequencing data and analyses.

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