Over the past decade, DNA sequencing costs have fallen more than 50-fold, fueled in large part by tools, technologies and process improvements developed as part of the successful effort to sequence the human genome. However, it still costs about $10 million to sequence three billion base pairs – the amount of DNA found in the genomes of humans and other mammals.
The National Human Genome Research Institute (NHGRI)’s near-term goal is to lower the cost of sequencing a mammalian-sized genome to $100,000, which would enable researchers to sequence the genomes of hundreds or even thousands of people as part of studies to identify genes that contribute to common, complex diseases.
Ultimately, NHGRI’s vision is to cut the cost of whole-genome sequencing to $1,000 or less, which will enable the sequencing of individual genomes as part of routine medical care. The ability to sequence an individual genome cost-effectively could enable health care professionals to tailor diagnosis, treatment and prevention to each person’s unique genetic profile.
The new grants balance NHGRI’s sequencing research portfolio by supporting more investigators working on technologies that would make it feasible to sequence a genome for $1,000. The majority of researchers, who received NHGRI’s initial sequencing technology grants, issued in October 2004, are working on technologies to sequence a genome for $100,000.
Both approaches have many complementary elements that integrate biochemistry, chemistry and physics with engineering to enhance the whole effort to develop the next generation of DNA sequencing and analysis technologies.