The Human Genome Project–a 13-year project completed in 2003–has changed the course of biological and medical research. While sequencing of the first human genome cost an estimated $3 billion, subsequent sequencing efforts have been significantly faster and less expensive. To date though, only a handful of human genomes have been decoded–in large part because of technology limitations.
But technology continues to advance rapidly. One of the methods described in BioOptics World’s 2008 article “Manufacturers race toward the $1000 genome” (see bioopticsworld.com/articles/316652) was the subject of a recent article in the New York Times, “Cost of Decoding a Genome is Lowered” (see nytimes.com/2009/08/11/science/11gene.html?_r=3&hp). The August 10 Times article discusses Helicos Biosciences’ (Cambridge, MA) Heliscope Single Molecule Sequencer. Its inventor, Stephen R. Quake, told the Times, “There are four commercial technologies, nothing is static and all the platforms are improving by a factor of two each year.” He added that, “We are about to see the floodgates opened and many human genomes sequenced.” And, he predicted that the $1000 goal could be reached in two or three years–at which point genome sequencing could become a routine part of medical practice.
Another technology, Pacific Biosciences’ (Menlo Park, CA) Single Molecule Real-Time (SMRT, pronounced “smart”) sequencing, was presented in July at the 51st Annual Meeting of American Association of Physicists in Medicine (Anaheim, CA) (see bioopticsworld.com/articles/367274). Pacific Biosciences says that it is now using the technology to develop a device able to sequence DNA at speeds 20,000 times faster than the second-generation units now available. The device is due for commercial release next year, and Pacific Biosciences says it will eventually drive the per-genome cost down to $100.
The next step
In terms of life sciences discovery, proteomics (the study of proteins) holds even more promise than genomics–because most biological function depends on proteins. Revealing the details of cell operation first necessitates the understanding of protein, including which proteins are involved, what activities they carry out, and how they interact. Indeed, the wish to understand proteins is the force that drives the innovative work of Harvard University’s Sunney Xie. Xie is inspired by the fact that his twin daughters, with identical genes, have different characteristics (see bioopticsworld.com/articles/361473).
As ever, understanding is greatly facilitated by direct observation. This month’s feature on proteomics (by another scientist named Xie–Aihua Xie and colleague Wouter D. Hoff of Oklahoma State University) illustrates that optics and photonics have much to offer the quest to understand proteins. See the article on p. 18 to learn how IR spectroscopy in particular is advancing the effort.
