A Major Step in “Personalization” of Drug Therapy: The 1000 Genome Project


It is not just about individualizing dose, dosage form, or dosing anymore. A new research results were revealed Wednesday laying the complete DNA sequence of a thousand people of fourteen different population groups from all over the globe, including Europe, Asia, Africa, North and South America. The results of the study were published in Nature magazine. and in the 1000 Genome website.

To identify rare variants in the exome, the part of the genome that codes for proteins, the researchers sequenced the exons of 15,000 genes in each genome an average of 80 times. The study discovered 99.8 percent of exome variants with a frequency of at least 1 percent and 99.3 percent of variants elsewhere in the genome with a frequency of at least 1 percent.

The project has produced a great deal of genomic data estimated to be the size of 180 terabytes of hard-drive space, The results are freely available on the Internet through public databases and in the cloud this year via Amazon Web Services (AWS)

“With this project, we have succeeded in making sure that information about our shared genetic heritage, and the common DNA variants we carry, are freely available for researchers to use to benefit patients around the world,” said David Altshuler, M.D., Ph.D., an endocrinologist at Massachusetts General Hospital who directs the Broad Institute’s Program in Medical and Population Genetics, and who co-leads the 1000 Genomes Project. “Moreover, the tools and methods that this project has helped foster are being used now in disease-oriented genetics research and will be used increasingly in clinical care.”

Researchers identified 38 million single-nucleotide polymorphisms, or SNPs (pronounced “snips”), which are DNA variants that occur when a particular base in the genome sequence is different among people.

These SNPs constitute major genetic differences among people. Each one of them represents a specific position in the genome where the DNA expression is different by one single trait..

SNPs  can help explain an individual’s susceptibility to disease, response to drugs, or reaction to environmental factors such as air pollution or stress. This opens the door for great opportunity of personalizing drug treatment to each individual.

Planning for the project started in 2007 with a cost of $120 million and the contribution of many institutions and research group.


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