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88 pages 

Date published 
August 2007 

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Scientific and Commercial Implications of the $1000 Genome Overview

 

Cover ImageNext-Generation Sequencing: Scientific and Commercial Implications of the $1000 Genome

By Kevin Davies, PhD

 

 

 

Current trends and future directions in genome sequencing

A growing number of companies and academic groups are reporting impressive progress in commercializing new sequencing platforms that offer orders of magnitude of improved throughput and cost. The prospect of routine, personalized genome sequencing is suddenly within reach, not to mention spectacular advances in a host of related fields. This new report from CHI Insight Pharma Reports describes and assesses these developing technologies and their applications:

  • Pyrosequencing
  • Sequencing by synthesis
  • Supported oligonucleotide detection (SOLiD)
  • Single-molecule sequencing
  • Nanopore sequencing
  • Optical trapping
 

Next-Generation Sequencing: Scientific and Commercial Implications of the $1000 Genome also includes the results and analysis of a quantitative Web survey of the views, practices, and plans of individuals at life science organizations involved with gene sequencing.

Overview Image 

In that survey, when respondents were asked their chief application of DNA sequencing, the most common response was resequencing—41%. Second was de novo sequencing at 21%. Other applications include genotyping, comparative genomics, and systems biology. “Other” responses included bioinformatics and software, diagnostics, and protein function. A handful of respondents said they were involved in multiple applications.
 

Even as scientists were celebrating the conclusion of the Human Genome Project a few years ago, a number of radically new sequencing technologies were reaching exciting phases of development. These technologies are able to dramatically increase the output of DNA sequence per machine and slash the cost, by miniaturizing the process and performing millions of reactions in parallel. Although in most cases, the individual read lengths of each DNA fragment are much shorter than traditional Sanger methods, the sheer quantity of sequence and sophistication of computational methods for assembling that sequence are such that these technologies are already finding numerous exciting applications in academia and industry.

While not all of these new technologies are necessarily targeted for human genome sequencing, they have coalesced under a neat catch phrase: “the $1,000 genome.” That is the approximate cost at which experts believe that human genome sequencing will reach the global middle class. At that point, having one’s complete genome sequenced will cost no more than many other medical procedures people tend to take for granted. The results will be a full genetic readout of one’s DNA (or at least the coding portions of DNA), which could yield unimagined consequences in terms of revealing predispositions to a host of rare and common diseases, providing those who wish to know with the information to change their diet, improve their lifestyle, and tailor their medications to live a full and healthy life.
Although it is still early days for next-generation sequencing, a surprising number of applications have already emerged, with many more on the horizon. The applications covered in this report include:

  • Personal genomics
  • The Cancer Genome Atlas
  • Evolutionary genomics
  • Environmental genomics
 

The report also describes the efforts and progress of the companies that have become leaders in the next-generation sequencing race, including:

  1. Applied Biosystems
  2. GE Healthcare
  3. Helicos BioSciences
  4. Illumina/Solexa
  5. Reveo
  6. Roche/454 Life Sciences
  7. VisiGen Biotechnologies
 

Next-Generation Sequencing: Scientific and Commercial Implications of the $1000 Genome is an essential tool for individuals involved in R&D or commercialization of next-generation sequencing technologies.

About the Author:
Kevin Davies, Ph.D., is the founding Editor-in-Chief of Bio-IT World. He is also the author of Cracking the Genome (The Free Press), the founding editor of Nature Genetics, and former editor-in-chief of Cell Press.