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article imageAre we closer to the $5000 personal genome?

By Igor I. Solar     Mar 13, 2010 in Science
The Human Genome Project, an international research initiative lasting 13 years, sequenced the human genome at a cost of about US$3 billion. Researchers in the US sequenced the genome of patients with genetic diseases for $25,000-$50,000 each.
Two scientific papers published on March 10th, 2010, describe the results of concurrent research on the decoding of the genome of members of two families carriers of rare genetic diseases. Dr. James R. Lupski of Baylor College, Houston, TX, leading a team of 21 researchers, reports in the New England Journal of Medicine the decoding of his own genome. Lupski, a distinguished medical geneticist suffers of Charcot-Marie-Tooth disease, an inherited neurological disorder affecting approximately 1 in 2,500 people in the United States. The second study, published in Science by a team of 15 scientists led by Dr. David J. Galas and Dr. Leroy Hood of the Institute for Systems Biology, Seattle, WA, analyzed the genome of a family of four, the parents and two children with two genetic diseases, Miller syndrome (MS) and Kartagener Syndrome (KS). MS disorder is characterized by distinctive cranio-facial malformations and KS causes a defect in the action of the cilia lining the respiratory tract.
The personal genome of several healthy people, including individuals from the USA, Africa, China and Korea has been sequenced so far. The first few times, starting in 2001, that scientists decoded the DNA of an individual human being, each effort had a cost of hundreds of millions of dollars and required the work of more than 250 people. In 2008, the lowest reported cost of genome sequencing was $250,000 keeping about 200 people busy for several weeks. In 2009, Dr. Stephen R. Quake from Stanford University Medical Center, used a DNA sequencing machine to sequence 95% of his own genome in a week for only $50,000.
The family whose genome sequencing is reported in Science was analyzed by a company (Complete Genomics of Mountain View, CA) using a new DNA sequencing method, at a cost of $25,000 each. Clifford Reid, chief executive of Complete Genomics, announced that the company is scaling up the procedure and soon will be able to sequence about 15 genomes in a day and that the price per genome may drop below $10,000. “We are on our way to the $5,000 genome,” he said.
The knowledge obtained through the Human Genome megaproject and the advances in gene sequencing automation and bio-informatics may soon make possible that information that a few years ago had a cost similar to that of a 747 Jumbo jet could be obtained by any individual interested on knowing the particular arrangement of his/her own DNA for less than the cost of a compact car.
More about Genome, Genetic diseases, Dna
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