Researchers from Penn State University, the University of New South Wales in Australia, and the Baylor College of Medicine have sequenced the genomes of four individuals from different groups of the click-speaking San of southern Africa, as well as of Bishop Desmond Tutu of South Africa.  Their results, published online yesterday in the journal Nature, are providing striking new insights into human genetic diversity.

Joanna Mountain, 23andMe’s Senior Director of Research, has been studying the genetics of click-speaking peoples of Africa for over ten years.  Dr. Mountain said the new study “has demonstrated that any two San individuals are as genetically different from one another as a European and a Chinese individual. Clearly the linguistic diversity of the San is matched or even exceeded by their genetic diversity. Furthermore, even though the San Bushmen are often described, even by this study’s authors, as the ‘oldest known lineage of modern humans,’ the new genetic data reveal that the San have evolved genetically as much as any group, partly through the random mutations that occur over time, but also through changes that enabled them to handle their often challenging, exceedingly dry environment.”

Read more about this study:

• New York Times
• Technology Review
• Not Exactly Rocket Science

ShareThis

When I was 12 years old I did my first Punnett square and decided that genetics was absolutely, most definitely the coolest thing ever.

When I was 13 years old they started the Human Genome Project. The task of sequencing all three billion base pairs in a person’s genome was the most enormous project I could imagine. And I didn’t even understand you had to cover the whole thing more than once to do it right.

I was just finishing my first year of graduate school when HGP leaders and President Clinton announced the working draft of the human genome.

Now I’m 31 and I’ve actually seen my own genetic data through 23andMe.

The totally mind blowing-ness of how quickly things have changed hit me today as I listened to two talks at the ASHG meeting in Philadelphia.

First, there was Jun Wang from the Beijing Genomics Institute. He and his colleagues recently published the first full genome sequence of an Asian individual. The numbers and statistics that he presented were all very impressive, but what struck me most were his descriptions of the logic behind two of his other endeavors, the Tree of Life project that is sequencing various crops and the Giant Panda Project: “Taste good, sequence it” and “Look cute, sequence it.”

Obviously there are good scientific reasons for both of these projects. But can you believe we live in a time where you literally could just sequence something’s genome because it was tasty or cuddly?!

The second talk that really drove home for me what a special genetic era we have entered into was by David Altschuler on behalf of the 1000 Genomes Project. This multi-national public/private endeavor is going to do exactly what its name suggests – targeted sequencing of 1000 peoples’ genomes to create the most complete catalogue of human variation ever.

The implications of the project are huge. But for me, a biologist who vaguely remembers that there was a time when people did science without much computer power or the internet, the craziest thing was when Altschuler put the sheer amount of data the project is producing into perspective: each week in September and October of this year the 1000 Genomes Project created the equivalent of all the data in GenBank. Each week! In 2009 the 1000 Genomes project expects to create 1 petabyte (1,000,000,000,000,000 bytes) of data. For comparison Altschuler said that the Large Hadron Collider, which is expected to create 15 petabyes per year, has had to set up a system of 140 data centers in 33 countries.

Maybe you already know all this and aren’t that impressed anymore. Maybe you’re more concerned with what these and other researchers are actually going to do with all of this sequence data. But for just a second, I want you to think about how cool this all this. What other branch of science has ever moved so fast? One of the guys who discovered the structure of DNA is still around and has had his whole genome sequenced. And someday soon, you may have yours sequenced as well.

Photo: U.S. Department of Energy Genome Programs

ShareThis

A story in the weekly science section of today’s New York Times profiles the first customer of Knome, a company started by Harvard University professor (and 23andMe scientific advisory board member) George Church that offers complete genome sequencing for a cool $350,000.

The first person to pony up the cash is one Dan Stoicescu, a Romanian-born biotech entrepreneur who said he’d rather spend his fortune on his genome than a Bentley or an airplane.

Some might interpret Stoicescu’s purchase as an expensive ego trip. But when you consider what he’s getting for his money, it’s clear that he is being anything but selfish.

“I view it as a kind of sponsorship,” Stoicescu told the Times. “In a way you can also be part of this adventure, which I believe is going to change a lot of things.”

Many of our customers feel the same way. But because our Personal Genome Service costs 350 times less ($999) than whole genome sequencing, in our opinion they get a much bigger return on their investment – in the form of education about what the latest research says regarding how different genetic variations relate to traits and conditions.

But there’s an even bigger return to come. As more and more people up for our service and contribute their genetic information to our research database, they’ll be able to participate in specific research studies designed to find genetic associations with their traits and conditions. This will be an opportunity not only to be part of the adventure, but potentially to reap its benefits as well. Our expectation is that through discovering more associations – which typically requires the study of thousands of individuals – we’ll move more rapidly toward early detection, prevention and personalized care.

Research is a numbers game; the more people who are enrolled, the higher the likelihood of its success. So if you’re thinking of shellling out $350,000 for your genome, you might also consider finding 349 people who share one of your traits (Type 2 diabetes? Crohn’s? Psoriasis?) and sponsoring them in 23andMe. And then let the studies begin!

Photo by Andrea Rinaldi/Flickr

ShareThis

I last saw fireworks at a genomics conference in 2000. Back then, euphoria around the first human reference sequence reached a frenzy and many companies including Celera were moving to turn it to commercial advantage, funding a lot of fireworks and champagne in the process. But since then, though the human genome sequence has revolutionized drug development and our understanding of human biology, the average consumer has seen little direct benefit.

Eight years later, this is the second wave. The fireworks are back because a generation of new technologies is promising to drop the cost of generating the complete DNA sequence of any human to $1,000 – though we’re not there yet.

As little as two years ago it still cost $10 million to sequence a human genome. By last year, the price was down to maybe $3 million. At last week’s meeting, that figure dropped precipitously. First there was the unveiling of a human genetic sequence produced for $100,000, using a machine that you can buy today. Then, the same day, there was the announcement that a new machine will soon be available to do the job for an estimated $72,000. By some estimates, the cost of sequencing a human genome could be a few thousand dollars by 2014.

23andMe is already riding this wave. A dozen years ago it would have cost about $600,000 to examine the 580,000 points, known as SNPs, that we include in our $999 service. Eventually we’ll be able to give you your complete sequence for that price.

Genomicists hard at work lowering the cost of genome sequencing.

But at 23andMe we believe, as one of the conference speakers noted, that the bigger challenge right now is collecting so-called phenotypic information. Phenotype is all the physical and behavioral stuff your genotype can affect, such as height, eye color and disease susceptibility. Both genotype and environment influence phenotype, and the research challenge is to gather and interpret the connection between the two. We can then make more detailed and accurate predictions from your genome.

As the smoke blew across the beach, the future seemed clear. Genomic information is already being used for diagnosing novel fatal viruses in transplant recipients, understanding adverse drug responses and determining which mutations a cancer harbors and which drugs may work against it. Prices have come down 100-fold for DNA sequencing in the last five years and will likely continue on that trajectory. In the last talk of the meeting, we learned about a new method of DNA sequencing that might one day enable your genome to be read completely in a few hours. That seems worthy of fireworks.

ShareThis