genomeboy.com

Like its competitors, 23andMe offers information about an individual’s disease risk. But it has also opted to emphasize more entertaining approaches to personal genomics, including using colorful visualization tools to look at a subject’s ancestry and compare it with that of celebrities from Jesse James to Benjamin Franklin and Bono. Now, to capitalize on the boom in social networking, the company will launch a genome-sharing tool that allows people to compare their genome with those of family members, friends, and even strangers who have offered up their DNA data. “It seems like the first natural curiosity people have is, where do I come from? What are my roots?” says Linda Avey, who cofounded 23andMe with Anne Wojcicki. “The next natural [question] is, how do I compare to other people?”

This is pretty funny:

I went to attend a screening of the creationist propaganda movie, Expelled, a few minutes ago. Well, I tried … but I was Expelled!

Thomas Goetz’s story on PatientsLikeMe in today’s NY Times is required reading. One can imagine hordes of physicians gagging on their Sunday morning coffee:

When patients take the reins of their own treatment, what role do doctors play? What’s to keep patients from misinterpreting the streams of data and finding false hope — and what’s stopping them from embarking on unproven and even risky treatments or dosages? And what happens if the real-world information at PatientsLikeMe contradicts the clinically proved protocols of medical science?

I’ll tell you exactly what happens: Human sacrifice, dogs and cats living together… mass hysteria!

Another quote of note:

Fournier, a self-described information junkie, relates all these details with a blasé precision. Her willingness to put so much information about herself online may seem immodest, even imprudent. But not to her. “I don’t worry too much about that,” she says. “Pretty much everybody I know over 45 has some kind of medical condition. Some people have had cataracts surgery, or they have high blood pressure, or high cholesterol or diabetes. Everyone has something. And if everyone has something, that really levels the playing field.” [emphasis added]

Ah, HIPAA, we hardly knew ye…

And so what about when these folks’ data are sold to big pharma? That’s the $64 billion question, not only for the drugmakers but presumably for potential patient pipelines like the personal genomics companies. But Goetz implies that drug companies are reluctant to eat from the Tree of Knowledge:

“…so far, it seems, the drug industry has balked at the prospect of knowing so precisely what happens to their products after they reach the market.”

Really? I thought this was all about amassing data, no? Could that reticence have something to do with why the pharmaceutical industry is mired in a decade-long slump?

Personal genomics has taken a bit of a beating lately, mainly at the hands of the biomedical establishment. One day soon, I promise I will take up these issues on their merits. Meantime, it seems to me there’s only one appropriate response: Theme Song! It comes to you courtesy of the late great Steve Marriott and a post-Frampton incarnation of Humble Pie, circa 1971. So, with apologies to my friends in the healing professions, I say, Rock on, my diploid brothers and sisters:

Every revolutionary idea evokes three stages of reactions: At first people say, ‘It’s completely impossible.’ Then they say, ‘Maybe it’s possible to do it, but it would cost too much.’ Finally they say, ‘I always thought it was a good idea.’

Arthur C. Clarke, 1972

Expression Analysis takes delivery of the first Heliscope just before the start of our state-wide month-long holiday.

I’m a few days late on this (what else is new), but ABI has sequenced a Yoruba for $60,000 at 12x coverage–that’s 36 gigabases for those of you scoring at home. As usual, it was the X chromosomes doing the heavy lifting:

The sequence files are subdivided according to the SOLiD instrument in Beverly, Mass., that initially produced the sequence. McKernan’s group names each of its instruments after a famous female scientist. The instruments contributing to this project were named Amelia, Barb, Clara, Florence, Joan and Liz.

So maybe this systems biology thing might catch on after all…Matthew Herper calls attention to a Nature study (summarized here) wherein Rosetta Inpharmatics and deCODE analyzed the expression of ~24,000 genes in order to find networks of genes associated with changes in body mass index. In other words, it’s GWAS meets microarrays.

The new technique isn’t a final solution to the problem of how to figure out which genetic defects actually cause disease, says Leroy Hood head of the Institute for Systems Biology. Leonid Kruglyak of Princeton University led a 2002 team that used the same basic ideas to understand genes in yeast. “It’s nice to see this beginning to bear fruit in human studies,” he says.

George Church of Harvard University says his project to sequence the DNA of thousands of people–called the Personal Genome Project–is collecting data from tissue samples to do similar kinds of work.

I belong to a generation that grew up believing we were shaped by love, care, or lack of it — or perhaps even the number of books on our parents’ bookshelves. But we will go to our graves believing that it is a combination of letters in our genetic code that determines how we get there, and when. Our concept of the stuff we are made of will have undergone fundamental changes. I got a glimpse of that when I was looking around that room at my fellow mutants, and again and again…as I looked at myself, my biological daughter, and my adopted son. I was transported to a new era, a future that will rest on a different understanding not only of what causes things to go wrong in human beings but of what makes a human being in the first place, and what connects any one of us to any other.

- Writer and BRCA1 mutation carrier Masha Gessen, from Blood Matters

George Church flanked by Francis Collins, Linda Avey and Craig Venter at the World Economic Forum in Davos, Switzerland, January 2008: