Gene Mapping: Bring home a DVD along with the baby.

[Guest guest]

July 18, 2006 The Quest for the $1,000 Human Genome By NICHOLAS WADE As part of an intensive effort to develop a new generation of machines that will sequence DNA at a vastly reduced cost, scientists are decoding a new human genome — that of James D. Watson, the co-discoverer of the structure of DNA and the first director of the National Institutes of Health’s human genome project. Decoding a person’s genome is at present far too costly to be a feasible medical procedure. But the goal now being pursued by the N.I.H. and by several manufacturers, including the company decoding Dr. Watson’s DNA, is to drive the costs of decoding a human genome down to as little as $1,000. At that price, it could be worth decoding people’s genomes

in certain medical situations and, one day, even routinely at birth. Low-cost decoding may bring the genomic age to the doctor’s office, but it will also raise quandaries about how to safeguard and interpret such a wealth of delicate and far-reaching personal information. The first human genome decoding, completed by a public consortium of universities in 2003, cost more than $500 million. With the same technology, dependent on DNA sequencing machines made by Applied Biosystems, a human genome could probably now be decoded for $10 million to $15 million, experts say. Dr. Watson told the students that he had given the company permission to publish the sequence of his genome, “provided they didn’t release to the world that I have some disease I don’t want to know about.” Genomic information can already reveal a lot and will reveal much more as the roles of new genes are discovered. “I think that personal genetic

information should ordinarily be kept secret,” Dr. Watson said. Mr. McLeod expressed reservations about releasing personal genetic information, despite having Dr. Watson’s permission to do so. “Jim feels there are certain things he’d be comfortable releasing,” he said. “I’m not sure we would agree.” David Bentley, Solexa’s chief scientist, said that the company’s DNA sequencing machine had already decoded several bacterial genomes and that he was planning to sequence a human genome — that of an anonymous man from the Yoruba people of Nigeria. An African genome was chosen because there is greater genetic diversity in African populations, Dr. Bentley said. The demand for whole genome sequencing is a long way off, in Dr. Bentley’s view, but not so distant that it is too early to think about the consequences of generating such information. He advocates that two people should control access to a person’s genome sequence — the patient and

the physician. Why not the patient alone? Dr. Bentley said genomes would be so difficult to analyze correctly that interpretation should stay within the medical profession. Otherwise, freelance services will spring up, offering to predict whether a person will get heart disease or their age of death. This potential for misinformation “would have a huge adverse impact on the medical use of genetic information,” Dr. Bentley said. A recent example of genetic misinformation occurred last month when a DNA testing genealogy company, Oxford Ancestors, told Thomas R. Robinson, an accountant at the University of Miami, that he was a descendant of Genghis Khan. Only because Mr. Robinson sought a second opinion did he find that the information was incorrect. Technology, not medicine, is the immediate force behind the quest for the $1,000 human genome. The new decoding machines are being developed because they are possible, not because hospitals are demanding them. But the makers expect that demand will grow as researchers develop new uses. “As we drop the price and increase the capability, there are applications that couldn’t be done before,” like a researcher being able to screen a thousand patients for cancer mutations, Dr. Gilbert said. At present, only a handful of genes are monitored by doctors in clinical practice, and specific tests for these genes make it unnecessary to

decode a person’s entire genome. But at some point, the new machines or their successors may make genome decoding a routine medical test. Already, every newborn baby endures its heel being pricked to draw a few drops of blood, which are tested for a handful of enzymic deficiencies. But when genomes can be decoded for $1,000, a baby may arrive home like a new computer, with its complete genetic operating instructions on a DVD. Copyright 2006 The New York Times Company "Our ideal is not the spirituality that withdraws from life but the conquest of life by the power of the spirit." - Aurobindo.

See the all-new, redesigned .com. Check it out.