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Biomedical Optics & Medical Imaging

Jeff Schloss: Sequencing the human genome to promote health and understand disease

As the costs come down, researchers will be able to learn about the correlations between genome sequences and health.
16 October 2012, SPIE Newsroom. DOI: 10.1117/2.3201210.03

In 2004, the National Human Genome Research Institute, part of the National Institutes of Health, launched an ambitious program of research to reduce the cost of sequencing the human genome -- all of the DNA in the nucleus of the cells in our bodies -- from $10 million to about $1,000. Lopping 4 zeros off of the cost of a process requires tremendous creativity and risk-taking. Research supported by NHGRI, performed in academic and industry labs, is being complemented by the substantial investment that enables aggressive research and commercialization programs by a number of companies. The outcome has been a remarkable reduction in the cost of sequencing and explosion in the availability, in databases, of tens of thousands of human genome sequences, enabling research to understand the contribution of changes in genome sequence to a variety of diseases that take such a toll on the human population.

These low-cost sequencing methods are also being used to understand the role of the microbes that naturally live on and in our bodies and strongly influence our health, as well as to improve the qualities of crops and livestock. Costs appear likely to approach the $1,000 goal over the next year, and sequence quality, already good, continues to improve. Versions of these systems are already being implemented for diagnostics, up to and including whole genome sequencing for individualized medical care, though so far the later is far from routine.

Jeffery A. Schloss is Program Director for Technology Development Coordination in the Division of Extramural Research at NHGRI/NIH. He manages a grants program in development of DNA technologies, and in particular the program to develop technologies with which to sequence human genomes for $1,000. He also coordinates the Centers of Excellence in Genomic Science program. He helped to formulate and then led or served on interdisciplinary initiatives, including NIH Bioengineering Consortium (BECON), the Trans-NIH Nano Task Force, and the U.S. interagency National Nanotechnology Initiative. For the NIH Common Fund, Schloss co-chairs the Nanomedicine Initiative and leads the technology development initiative for the Human Microbiome Project. He earned the BS degree in biology with honors from Case Western Reserve University and the PhD in cell biology from Carnegie Mellon University, conducted postdoctoral research at Yale University, and served on the biology faculty at the University of Kentucky.