The 1000 Genomes Project Will Help Us Understand Genetic Variations

It initially cost $3 billion to fully sequence all of the 25,000 or so genes that describe a human being. The resulting data is essentially an “owner’s manual” for our body, giving us invaluable insight into our genes. From this genome, we can determine our chances of coming down with certain diseases, and trace our genetic lineage going back thousands of years. As part of a BBC/Discovery Channel documentary, I myself had many of my own genes sequenced.

But because gene sequencing is now largely automated by computers and robots, the price of sequencing has plunged down to $50,000 per genome, and will eventually drop to less than $1,000. This means that science can now tackle huge numbers of genomes at the same time, opening up new vistas for medicine.

Researchers have been hard at work at the 1000 Genomes Project; describing a series of genetic variations by examining the entire genome of 179 people, and examining that of 697 people in “just” the protein coding regions. Reports of the project were first published yesterday on the heavily visited Nature Web site.

It’s really the tremendous advancements and continued decreased costs in the areas of both genomics and DNA sequencing technologies that have allowed us to examine such variations across a wide array of individuals from various population sectors. Ultimately, this allows us to take all that information to create maps of and plots of data that may one day explain why certain individuals are at higher risk for diseases like cancer, heart disease, diabetes, and Alzheimer’s. The map will also provide us with a better understanding of the ways that these diseases operate, giving us the tools we need to combat them on a scale previously impossible. The full report published in Nature (titled “A map of human genome variation from population-scale sequencing“) provides extensive details of the team’s efforts, findings and also includes a variety of visual representations of the data that they gathered. Some good night-time reading perhaps..

The 1000 Genomes Project is an ongoing and very ambitious one. Sequencing and later organizing and cataloging a 4.9 trillion letter DNA code is no small feat. Not only has the project essentially created the first comprehensive map of these “variations” in our genetic code but it’s going to be available publicly—to researchers all over the globe. The co-chair of the project stated that “the map of genetic variation will ultimately collect sequence from 2,500 people from multiple populations worldwide and underpin future genetics research.” This ambitious project is indeed a “next-phase” for human genetic research.

A massive amount of data was collected after the examination of these sequences. The data then of course had to be analyzed, cataloged and organized. The researchers have found 1,000 or so genes that are duplicated in most individuals including 44 families of genes where extra copies were previously unknown to us. You really have to read the paper to gain a better perspective on their findings, but I will say that the amount of discoveries they have unearthed is extraordinary. This however is just the pilot stage for the project and it has already provided more data in terms of genetic variation that was available to us just one year ago. They plan to have the full 2,500 people in their system some time around the year 2012.

Results are suggesting that each of you reading this very blog entry carries an average of 75 or so variations which may in fact play a role in various inherited disorders. The completed map will essentially offer us a great deal of insights into the understanding of the wide array of diseases we have to worry about and ultimately lead to new types of treatment. Perhaps in the future we will be able to combat things before they even have a chance of running amok in our bodies giving the human condition a boost in longevity.

A highly sophisticated catalog of this information will soon be available online to researchers all over the world, to access, examine, share, comment, and build upon. Opportunities and open sourced collaboration projects like this really allow scientific fields to advance to the next level.