Order Of Magnitude More Gene Sequencing In 2011

Nature estimates that the number of sequenced human genomes will go up by about an order of magnitude between now and the end of 2011.

Although far from comprehensive, the tally indicates that at least 2,700 human genomes will have been completed by the end of this month, and that the total will rise to more than 30,000 by the end of 2011.

This is an example of why I keep saying that the floodgates on genetic data are opening, that the rate of discovery of what genetic mutations mean is rapidly accelerating, and that we will soon learn enormous amounts about what many thousands of our genetic variants mean. The utility of getting yourself genetically tested is going to rise sharply.

Whole genome sequencing has started to enter into clinical medical practice.

It may be small-scale and without fanfare, but genomic medicine has clearly arrived in the United States. A handful of physicians have quietly begun using whole-genome sequencing in attempts to diagnose patients whose conditions defy other available tools.

The cost of full genome sequencing is now below $20k and falling. The ability of moderately affluent individuals to pay for their own genome sequencing for diagnostic purposes creates an additional source of genetic data. Unless regulators get in the way the ability of individuals to get their genomes sequenced will soon make individuals rather than large research centers the largest source of demand for genome sequencing services. This is a healthy development because individual demand will generate more sequence data and therefore more data to analyze to discover the meaning of human genetic variations. Anyone who pays to get their own genome sequenced who also volunteers to allow their genetic data to be used by researchers will help speed the search for the functional significance of all the genetic variants in humans.

Rapid changes often elicit opposition. In this case some commentators raise objections to personal genetic profiling services. But I see the direct-to-consumer (DTC) model of genetic testing and genetic sequencing as a great accelerator of the rate of production of genetic sequence information. I want the right to get myself thoroughly genetically tested. Tell your elected officials the law should recognize your right to get yourself genetically tested.

We are all genetically unique. You probably have about 60 unique genetic mutations. So the search for all the genetic variants is not going to end until all humans have their genomes sequenced.

Earlier this year, Jorde, who is on the 1000 Genomes Project steering committee, was part of the team that was the first to sequence the genome of an entire family  two parents and two children who live in Utah. As part of that study, published in March in Science, he estimated the rate at which genetic mutations are passed from generation to generation at 60  meaning each parent passes 30 genetic mutations to their offspring. Most gene mutations are harmless, but understanding the rate at which mutations are passed among generations is an essential part of understanding the human biological clock, according to Jorde. To confirm his estimated mutation rate, which was half of what had been estimated previously by indirect methods, researchers in the current study sequenced the genomes of two families of three people each. "We were delighted that the mutation rate estimate obtained from the 1000 Genomes Project was exactly the same as our estimate," Jorde said.

Scientists involved with the 1000 Genomes Project think they've now identified 95% of all genetic variations. Next comes the meaning of all these genetic differences and the ability to get yourself genetically tested for a low price. You can already get hundreds thousands of genetic differences checked for several hundred dollars. I'm starting to think seriously about getting detailed genetic tests.