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By Julia Boguslavsky

January 15, 2003 | The all-but-complete human genome sequence is not only an indispensable tool for biomedical research but also a major influence on the types of instrumentation researchers will invest in. "Sequencing the human genome has given us a road map to work with, but we still need a series of technologies and applications to fill in the gaps," says Sandra Rasmussen, biopharmaceutical marketing manager at PerkinElmer Inc.

As genomics reaches maturity, sequencing, genotyping, and microarrays are the key technologies to help fill those gaps.

DNA sequencing is a rapidly maturing market, with many more genomes to sequence after the human and mouse. "Genome centers bought a few thousand high-end sequencers, so the expansion part already happened," according to Stevan Jovanovich, vice president of global research at Amersham Biosciences. "We are seeing a shift in the market toward lower-end, lower-cost systems suitable for smaller labs."

Sequencing throughput already meets the needs of even the major sequencing centers. (Just consider that Amersham Biosciences' 384-capillary MegaBACE 4000 generates more than 2.8 million bases of sequence per day.) Upcoming improvements will aim for easier sample preparation, brighter dyes, and better matrices. The capillary sequencers will continue to rule the market for the next few years — or at least until we get to disruptive technologies. Single-molecule sequencing, which would mean a major paradigm shift, may be as close as five years, as evidenced by new technologies from Solexa, 454 Corp., and U.S. Genomics (see "Wanted: The $1,000 Genome," Bio·IT World, Nov. 2002).

Introducing ... 
Bio·IT World proudly introduces Fully Equipped — a regular column focusing on the technology underlying the tsunami of data in biopharmaceutical research driven by rapid improvements in life science instrumentation. Contributing writers Julia Boguslavsky and Robert Frederickson will examine the latest instrumentation developments and their applications.   
The increasing focus on genetic variation, driven by the need to understand the basis of disease and drug action, is good news for genotyping instrumentation. This area is poised to explode, but there is little consensus as to when — Jovanovich calls it "a moving target" — or which technologies will be first.

"Genotyping is a huge market, partly awaiting the technology, partly waiting for the market to shift and money to free up," Jovanovich says. "The technology is pretty fluid — the world has not settled on the genotyping standard yet. People are trying MS [mass spectrometry] approaches, bead-based or plate-based assays, mini-sequencing, microarrays — but which will win out in the long run, nobody knows."

One thing is certain: The cost of genotyping still needs to come down more than tenfold to enable large-scale association studies to correlate genes with disease.

As genotyping technologies start to penetrate the diagnostics market, a new set of requirements will become applicable. The technology will have to be simple enough to be used by a non-expert, capable enough to handle a diagnosis and pass FDA requirements, and inexpensive enough to make its way into doctors' offices.

Improvements in Microarrays 
Finally, microarrays are becoming a reliable and robust tool. In their early days, microarray technologies suffered from lack of standardization and reliability; much of the initial growth was based on the hype. In the past year or two, however, microarrays have become a workhorse of applied genomics, offering reproducible data — and plenty of it.

While the equipment for making custom arrays in-house is becoming easier to use, premade arrays are expected to be responsible for much of the growth in the microarray market, due in part to the convenience of ordering off-the-shelf solutions, such as Affymetrix Inc.'s GeneChips; the availability of a wider range of products (human, mouse, and, within about five years, chimpanzee chips); and the dropping costs of the chips themselves. "The microarray hardware is pretty good," Rasmussen says. "It's the software that needs to be improved to turn the data into true knowledge."

We are again back to the bio-IT equation.

The global analytical instrumentation market was worth more than $22 billion in 2001 and is estimated to grow an additional $10 billion by 2006, according to Strategic Directions International Inc. The bioinstrumentation segment is expected to have the highest annual growth of 9.5 percent and, by 2006, should account for more than a third of the total analytical instrument demand.

Several trends are emerging in the genomic instrumentation market:

  • "Lower-end" market. As the high-end market — large-scale sequencing centers — reaches saturation, the smaller academic and commercial laboratories will drive a good portion of the instrumentation market.
  • Cost. Reducing the cost of instruments and reagents has always been a key market driver. High cost kept many researchers out of the microarray field a few years ago, and it still prohibits many large-scale association studies. However, as prices drop, we'll see increasing penetration into both lower-end markets and large-scale drug discovery organizations.
  • Reagents. This is what consultants call the "aftermarket." While the instruments may not undergo major technological breakthroughs, much of the improvement in sensitivity and quantitation will be facilitated by the development of better reagents, particularly in sample preparation and labeling.
  • Throughput. Surprisingly, throughput is no longer a major driver in life science instrumentation, unlike a few years ago. This is partly because sequencing has reached sufficient throughput to satisfy even the major genome centers, while genotyping is still too cost-prohibitive to worry about the throughput needed for large-scale association studies.

Julia Boguslavsky is the conference director for Cambridge Healthtech Institute, and the former associate editor of Drug Discovery & Development and Genomics & Proteomics. She can be reached at 

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