ABSTRACT
The sequencing of the human genome ranks as one of the great milestones of biomedical research [1,2]. It has the potential to provide new insights into battling disease, comprehending the effect of environmental factors on health, and understanding the origin and evolution of the human species. Ironically, while the human genome project represents the greatest tour de force of DNA sequencing to date, it only increases the biomedical community’s appetite for faster DNA sequencing and diagnostic methods. One of the keys to unlocking the secrets of the human genome will be to compile the variations in genome sequence over statistically meaningful populations. It is these minute disparities that underlie differences in an individual’s susceptibility to disease, the severity of illness, and response to medical treatments [3]. This genetic variability often takes the form of single DNA base changes, so-called single-nucleotide polymorphisms (SNPs). Many predict a future in which doctors will routinely test patients for particular SNPs and then tailor drug treatments according an individual’s genetic makeup [4]. Making this dream a reality will require vast improvements in DNA diagnostics and measurements. Putting this into perspective, consider the requirements for cataloging SNPs, a necessary first step in understanding disease susceptibility. It is estimated that thousands of SNPs from hundreds of thousands of individuals will have to be analyzed, a figure approaching billions of assays. Given the enormous number of assays, paramount considerations for genetic test methods will be accuracy, speed, and cost.
