By John Lauerman
Oct. 14 (Bloomberg) -- Techniques to analyze a person's complete DNA for as little as $300 in material costs may be ready within months for research purposes, leading to routine tests in the marketplace, scientists said.
Variations and flaws in genes can predispose people to diseases such as diabetes, or determine their response to drugs, such as Novartis AG's Gleevec for cancer. Genomic testing costing a few thousand dollars or less may quickly lead to an era of personalized medicine in which patients receive treatments tailored to the genes they inherit, as well genetic flaws in cancer cells and other tissues, the scientists said.
Three studies reported today in the journal Nature Methods explore cheap technologies to decipher and analyze individual patients' DNA by allowing researchers to quickly find the small portions of the human genome that make protein and describe them, while discarding irrelevant data.
``There's quite a bit of excitement about it,'' said Richard Gibbs, director of Baylor College of Medicine's Human Genome Sequencing Center in Houston. ``This could accelerate the use of broad genetic screening techniques in the clinic. It could have a huge impact.''
`A Real Commodity'
Genome sequencing may fall dramatically in price as the new technology is explored by companies, said George Church, a Harvard Medical School geneticist who helped write one of three related studies.
``You can imagine certain business models where you'd give it away to sell something else,'' he said in a telephone interview. ``It will probably get to the point where it will become a real commodity.''
The Human Genome Project used sequencing machines such as those made by Applera Corp.'s Applied Biosystems Group to decipher all human genes. The project cost about $2.7 billion and finished in 2003, two years ahead of schedule, as new technology sped researchers' work.
Using today's tools, including faster sequencers made by Applied Biosystems Group and Roche Holding AG's 454 Life Sciences unit, the project would only cost about $30 million, said Michael Zwick, a geneticist at Emory University in Atlanta who helped write one of the journal studies.
Focusing just on the portions that make protein, called exons, reduces costs even more, he said. Zwick's research identified a new method for isolating target DNA for sequencing that will allow researchers to more easily discover subtle and overlooked genetic variations.
Microarrays
Sequencing is used to determine the order of the chemical building blocks of genes, represented by the letters A for adenine, T for thymine, C for cytosine, and G for guanine.
Gibbs reported on new, so-called microarrays, sets of miniaturized chemical reactions, designed to capture a larger, genomic region than ones used now. Church's research focused on amplifying genes so they can be more easily worked with.
By noting variations in the order of these building blocks, scientists can identify genetic areas which may be linked to specific diseases.
DeCode Sciences Inc., the Icelandic company that uses DNA studies to discover drugs and medical products, already offers tests for gene variations that raise the risk of heart disease and diabetes. Laboratories also perform studies to look for flaws in genes such as BRCA1 that may cause cancer.
1,000 Individual Tests
Complete gene sequencing would give patients and their families detailed information about all risks they may carry for a number of diseases, including heart disease and inherited neurological disorders such as Huntington's disease.
There are about 1,000 such tests available for a wide variety of DNA-linked diseases, ranging from about $200 to $3,000 in cost, said Cathy Wicklund, president of the Chicago- based National Society of Genetic Counselors.
Patients should think hard before asking for complete genome testing, when it becomes available, she said Oct. 12 in a telephone interview.
``Just because we have the technology doesn't necessarily mean that we should jump to offer it,'' she said. ``Consumers should ask themselves, `What is this going to tell me, is it going to give me information that's helpful right now?'''
Zwick said that he has helped form a company, called PeachTree Genetics, based in Atlanta, to develop cheap sequencing technologies. NimbleGen, another Roche unit that worked with Gibbs' team, is developing genomic sequencing tools for sale said Stan Rose, the unit's president.
Opening Up Study
``This technology has the potential to really open up the study of disease-related areas in the human genome, and enable direct sequence analysis of targeted areas for the first time,'' he said in a telephone interview.
Cancer researchers and other scientists will use the technology to determine how to fight tumors and track the success of treatments, said Bert Vogelstein, a Johns Hopkins University oncologist.
Applied Biosystems has forecast that the market for personal gene testing may reach $500 million by 2011, said Mark Stevenson, the unit's executive vice president who oversees DNA analysis products. The company's sequencers sell for about $600,000, he said.
``We're excited about the scientific applications and the business opportunities,'' he said.
To contact the reporter on this story: John Lauerman in Boston at jlauerman@bloomberg.net.
Last Updated: October 14, 2007 13:05 EDT
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