White Paper #4: The Future of Genome Sequencing

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services

The Future of Genome Sequencing

A white paper for the National Human Genome Research Institute

Submitted by: Mark Guyer and Adam Felsenfeld
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Developments in DNA sequencing technologies over the past two decades have been a critically important driver of breath-taking advances in our understanding of broad areas of biology and biomedicine, ranging from human disease to microbial ecology to evolution. During this time, and especially in the past few years, sequencing costs have decreased faster than Moore's Law and sequencing capacity has increased at an ever- greater pace. These advances have enabled the landmark accomplishments of genomics - the determination of the genome sequences of the major model organisms used in biomedical research (bacteria, yeast, roundworms, fruit flies, and mouse) and, ultimately, that of human. Building on those fundamental data sets, DNA sequencing has been applied on a large scale to learn more about human variation (e.g., HapMap and 1000 Genomes), the functional composition of genomes (e.g., ENCODE and modENCODE), and the genetic basis of many human diseases and other traits.

In the past few years, a new generation of DNA sequencing platforms based on fundamentally different methodologies has collectively become a 'disruptive technology' that will create a new set of research opportunities for the coming decade. The availability of these so-called 'next-gen' sequencing technologies (and the already emerging 'third-generation' technologies that will closely follow) raises many questions for the research community. NHGRI has identified a number of questions that are pertinent to the future of DNA sequencing and of genomics. These questions are listed below, and are open to the community for comment. We are particularly interested in input as to whether these are these the right questions and what other questions are important to consider?

I. What will be the consequences for biomedical and biological research of the rapid increase in DNA sequencing capacity and the rapid decrease in the cost of DNA sequencing that the new technologies afford?

A. What will be the consequences of 'next-gen' and then 'third-gen' sequencing technologies for biomedical research and for medicine?

B. What will be the consequences of using these new sequence technologies in terms of data analysis and informatics, including infrastructure, software development, data storage, etc.?

C. What will be the consequences of the new sequencing technologies in terms of the way sequencing efforts should be organized?

II. What is the value of continued development of sequencing technologies and further reduction in the cost and increase in the throughput of sequencing platforms?

III. How will the data generated by the new sequencing technologies, and the technologies themselves, be used to improve human health?

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Last Reviewed: March 15, 2012