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Blog Posted in avatar   Gabriel Gervelis's Blog

Moore’s Law and the Race to the Complete $1,000 Genome Sequence

By Gabriel Gervelis
Posted Dec 10, 2012 in Science
Most people involved in the world of technology are well familiar with Moore’s Law, which asserts that computing efficiency gains have on average doubled every two years and will continue to do so. Moore’s Law has become so influential that it is commonly applied beyond the computing world as a litmus test for advancement and improvement trends in any technological sphere. To meet or exceed the biennial doubling indicates a high level of success.
DNA sequencing, the process of determining the order of nucleotides within a strand of DNA, has kept up with Moore’s Law since the advent of one of the earliest and most widely used methods, which was developed by Frederick Sanger and coworkers in 1977. This has proven crucial, as the costs of sequencing a complete human-scale genome just a decade ago topped $100 million, a figure prohibitive to the advancement of the scientific community’s understanding of the building blocks of life. In just the past five years, however, the technology has far outpaced Moore’s Law, with machines and processes approaching the so-called “mythical” rate of $1000 per complete genome sequence.
Let’s take a look at some of the key dates in DNA sequencing to better understand how we have arrived at today’s rapidly evolving climate in DNA sequencing technology.
The Evolution of DNA Sequencing: Key Dates and Breakthroughs
1977: The Sanger Legacy
In 1977, Frederick Sanger and colleagues at the University of Cambridge improve on initial sequencing methods, utilizing dideoxy bases and gel electrophoresis; a process that would serve as the foundation of DNA sequencing technology for the next 30 years.# Sanger’s improvements on previous methods were considered to make the process easier and more reliable, cutting down on chemical toxicity and radioactivity.
1986: Kary Mullis and PCR (Polymerase Chain Reaction)
In a stroke of scientific epiphany, Kary Mullis, a biochemist at Cetus Corporation, comes up with a process for amplifying DNA, even from extremely small original samples. The technique, called polymerase chain reaction, not only drastically improves DNA sequencing speed and efficiency, but has since become a cornerstone of modern biological laboratory research in general.#
1986: Leroy Hood, ABI, and DNA Sequencing Semi-Automation
Leroy Hood of the California Institute of Technology, in partnership with Applied Biosystems, Inc. (ABI) develops a semi-automated machine that handles the chain termination step of the Sanger sequencing process, significantly improving efficiency. # Later the same year, ABI releases the ABI 370, the first automated DNA sequencing machine—still requiring some manual gel pouring—which was ultimately used to accelerate progress in the early stages of the Human Genome Project (HGP).
1990: Unraveling the Mysteries of Mankind with the Human Genome Project
In late 1990 the Human Genome Project, a partnership between the U.S. Department of Energy and the National Institutes of Health, is formally kicked off. Planned for completion in 15 years, the HGP aims to sequence and archive the 3 billion base pairs that compose human DNA as well as improve tools for data analysis.# The landmark project is significant not just in its scope, but also in that it leads to government license/transfer of technology, as well as the awarding of research grants to the private sector, jump-starting the now flourishing U.S. biotechnology industry.#
1996: DNA Sequencing Automation Grows Up
ABI introduces the ABI Prism 3700, the first truly automated sequencing machine. It replaces the manual process of pouring gels with automated reloading of capillaries in a polymer matrix.# Full automation, predictably, leads to further gains in efficiency and therefore cost savings.
2003: Completion of the Human Genome Project, or Just the Beginning
The Human Genome Project announces completion of its core goals, nearly two and a half years ahead of schedule, with 99% base pair completion of the human genome sequence of over 3 billion base pairs with an error rate of just 1 per 10,000 base pairs.#
2004/2005: Pyrosequencing and the Continued Evolution of Automation
454 Life Sciences introduces the Roche 454 Pyrosequencer, a machine/technique using light emission to determine the arrangement of base pair in a DNA strand. The system boasts 99% accuracy, but is more suited to smaller, targeted sequencing projects due to relatively high costs.
2006: The Archon Genomics X PRIZE
The X PRIZE Foundation announces a genomics competition wherein it will award $10 million to the first team to rapidly sequence 100 human genome donated by 100 living centenarians—with an incredibly high level of accuracy at minimal cost (relative to past technologies). Judging is scheduled to take place in 2013.
2008: Next Generation Sequencing Methods Take Off
Beginning in 2008, the development of so-called “Next-generation” sequencing technologies leads to astronomical gains in output and cost efficiency, leaving the Moore’s Law trend line far behind. Costs per megabase (on million base pairs) of sequencing drop from just shy of $1000 to $100, and in the course of the next fours years will drop to just $0.10.#
2012: The $1000 Genome The Future of Next Generation Sequencing
The race to develop technology capable of sequencing a human-sized (3 billion base pairs) genome for $1000 or less at high accuracy continues to heat up. Nascent companies break ground on new approaches, such as Stratos Genomics’ nanopore technology, which could theoretically sequence millions of base pairs per second.
Why DNA Sequencing Technology Matters
The most recent technological innovations in DNA sequencing could lower costs and reduce run times to the point where sequencing one’s genome becomes a standard test in clinical medicine settings, much like an MRI or CT scan. Patients could, in concert with their doctors, determine if they are predisposed to certain conditions, and therefore be more proactive about prevention. Furthermore, DNA sequencing advances will continue to improve research methodologies and understanding of diseases themselves, likely leading to the development of more effective drug treatments. Beyond medicine, DNA sequencing has also become a crucial component of crime scene investigations and has enhanced the scientific community’s knowledge of evolutionary processes. Impacts of this technology will also have it's effect on industrial design service providers as they are forced to innovate new product designs. This technology is not just about where and how we will advance into the future, but also where we have come from and who we truly are.

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