Length 164 pages

Date published June 2009

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Next-Generation Sequencing: Solving the Genome Overview


CoverNext-Generation Sequencing: Solving the Genome

Author: Ken Rubenstein, PhD



Next-generation sequencing (NGS) technologies are advancing in quality and applications diversity at a breathtaking pace. The market is diversifying strongly into labs without previous involvement in sequencing. This report examines:

  • Current NGS platforms and how they compare
  • Market dynamics and competitive landscape for new entrants
  • Next-generation systems in development
  • Bioinformatics issues
  • Applications of NGS
  • User survey results and views of interviewees

The first generation of DNA sequencing can be said to have ended when the first few human genomes were sequenced and a large number of genetic variations were detected in a relatively few individuals. Sequencing throughput is rising dramatically as costs per unit of sequence are falling equally dramatically. Now it has become possible to sequence a sufficiently large number of human genomes to explore the extent and medical meaning of genetic variations in statistically meaningful ways. The race to the “$1,000 genome” is well underway, and the number of entrants is surprisingly large, as are the ingenuity and inventiveness that have been brought to race.


Next-Generation Sequencing: Solving the Genome provides a detailed overview of the technologies involved in next-generation sequencing, starting with the four systems currently on the market and continuing with those now in development. A number of companies have technologies that promise some advantage over existing systems, but whether those advantages will be great enough to merit significant market share remains an open question. We also provide an overview of bioinformatics issues in next-generation sequencing and a comparative analysis of currently available platforms.

Applications of next-generation sequencing discussed in this report include whole-genome sequencing, RNA resequencing, ChIP-seq, disease prediction and diagnosis, and personal genomics. Next-generation sequencing is starting to impinge on DNA microarray usage and should continue to do so as costs drop. Existing next-generation sequencing users are striving to expand the case for personal genomics and for personalized medicine in general. Next-generation systems are currently enabling the genome-wide association studies needed to identify the genome variants central to deeper understanding of the molecular basis of genetically complex diseases and predicting individual risk of developing them.

Next-Generation Sequencing: Solving the Genome examines market dynamics and includes discussions of key issues relating to the competitive position of various technologies and companies. Next-generation sequencing instruments and consumables are selling rapidly and contributing nicely to growth rates of the market leaders. Second-round players must offer significant improvements over current market entrants in order to merit viable market share. Third-round technologies, particularly those involving nanopores, remain speculative at present, but could serve to accelerate market decentralization by virtue of extremely low costs and high speeds.

An Insight Pharma survey of next-generation sequencing system users generated a number of interesting observations and opinions, which are discussed. Transcripts from extended interviews with scientists and managers knowledgeable in the field are also included.

About the Author:
Ken Rubenstein, PhD, a biochemist and molecular biologist, received his PhD at the University of Wisconsin and postdoctoral training at the University of Pennsylvania School of Medicine. He was a key innovator and research manager for Syva Company, the diagnostics branch of Syntex Corporation. During his 13 years with Syva, Dr. Rubenstein became vice president, scientific affairs, a function that included strategic planning. Since 1983, he has served as a technology and marketing consultant to biomedical companies and an industry analyst, with more than 40 published studies to his credit.