Calling all enthusiasts: Misha Angrist talks personal genomes

Misha Angrist takes stock of a number of issues related to personal genomics in an article published today. Do people want access to their genomic data? Should people have access? What should they expect to discover from a genome sequence? What has been his experience thus far?

Misha also draws attention to one under appreciated aspect of obtaining a personal DNA sequence: there’s more to genomics than personalized medicine. Genomics might also be interesting and worthwhile even without obvious direct benefits.

“If you’re interested in medicine, you should talk to your doctor,” [George Church] says. “But if you’re interested in seeing a revolution close up and participating in research, then you should [be free to] mess around.”

Sober-faced enthusiasts may be the bootstraps necessary for the field of personal genomics to achieve lift-off. According to Misha:

“This is where we are in the era of personal genomics: some modest amusement, a few interesting tidbits, a bit of useful information, but mostly the promise of much better things to come. The more people are allowed–encouraged, even–to experiment, the sooner that promise can be realized.”

If amateur enthusiasts can make contributions to nuclear fusion (see video), why not personal genomics?

Read the article.

Misha Angrist. Personal Genomics: Access Denied? Even if we can’t interpret the data, consumers have a right to their genomes. MIT Tech Review. September/October 2008

See, Misha’s blog GenomeBoy.com

See, PGP-10 profiles

Esther Dyson on the Digital Health Revolution

Scribe Media’s Peter Cervieri interviews Esther Dyson, board member of 23andMe and one of the PGP-10.

Esther Dyson Video Scribe Media

In the interview, Esther gives her views on the history of commerce on the internet, problems with health care as we know it in the U.S., and the future of genetics.

Charlie Rose Interviews Thoughtleaders in Personal Genomics

Interviews with David Agus, Co-Founder, Navigenics, Dean Ornish, President, Preventive Medicine Research Institute and George Church of Harvard Medical School’s Personal Genome Project.

Previously on Charlie Rose, Esther Dyson discusses her participation in the PGP. See also, an interview with Francis Collins.

The Gene Collector: George Church and the PGP in Wired Magazine

This month’s issue of Wired Magazine has a nice article about George Church and his Personal Genome Project. Check it out:

Thomas Goetz, “The Gene Collector” Wired Magazine, August 2008.

From Trickle Down Genomics to the Virtuous Circle

In the spaces between the scientist’s bench and the patient’s bedside, practitioners of translational medicine concern themselves with the conversion of basic research into real world medical applications.

The field of translational research is evolving from its trickle down, bench-to-bedside roots into something which approaches an ongoing dialog between scientists and clinicians. From the NIH translational research site:

Scientists are increasingly aware that this bench-to-bedside approach to translational research is really a two-way street. Basic scientists provide clinicians with new tools for use in patients [sic] and for assessment of their impact, and clinical researchers make novel observations about the nature and progression of disease that often stimulate basic investigations.

The silent partner in translational research has always been the patient, who is presumably in bed, supine.

The Virtuous Circle
The field of personal genomics is on course to evolve the model of translational research one step further. Trickle down, bench-to-bedside genomics; two-way streets between researchers and clinicians…to finally, the virtuous circle, where individuals, at their desktops, are equal partners in what is bound to be an exhilarating group exploration of science, medicine, and our shared humanity:

virtuous_circle_translational_genomics_small.png

An recent editorial in the journal Nature Genetics signifies this mindshift is indeed underway:

Giving individuals their own genotype is not so much premature as truly disruptive. The individual gains a personal stake in the ongoing research effort and a huge incentive to find out more. A personal stake in finding out something that was not previously known is the key to getting students into research and may well be a powerful tool to educate and interest members of the public in the details of their own health and functioning. This boon was anticipated two years ago by George Church…at the launch of the ‘collaborative research endeavor’ called the Personal Genome Projects (http://www.personalgenomes.org/)…

…It is right to be skeptical of unknowns, but it would be wrong to underestimate the motivational potential inherent in handing people their genomes and asking them to participate in finding out more about their variation and phenotypes…

…In the meantime, individual genomics will have informed thousands participating in one of the most exciting areas of biomedical research, and it may recruit participants in prospective
studies that they will have funded partially from their own pockets. That being said, they are co-investigators, not patients, and the experiment will be conducted on their own terms!

Hurrah! I’m breathless.

Editorial. Positively Disruptive. Nature Genetics. 40(2): 119. February 2008.

Note to readers: The cast of characters in the graphic design above (aren’t they great?), were kindly provided by Ricardo Vidal. I can’t tell you how convenient it is to have a file folder containing a physician, a scientist, and red-headed woman in a blue dress. Thanks Ricardo! BTW, Ricardo is supplementing his grad school tuition with graphic design work for hire!

Figures from History, Redux 1: Gregor Mendel

redux.png

This is the first installment in a new series called Figures from History, Redux. I’ll be asking scholars and historians of science, medicine, and technology to provide a voice for long-departed historical figures, so that they too might weigh-in on current issues.

For this installment, I asked Simon Mawer, biologist and author of Mendel’s Dwarf, to speak-up for Gregor Mendel, the beloved lover of peas.

Question: If Gregor Mendel were alive today, do you think he would be part of the early adopter crowd anxious to have a peek at his personal genome sequence? Might he even eschew privacy and put it on the web for others to see and use?

I am certain - as certain as one can be about such things - that Mendel would have been delighted with a whole genome project and the idea of having his own sequenced. It would have appealed to the mathematician in him, and the chess-player. ‘And after all, what do I have to hide?’ he’d have said. And then, on consideration, he would have added, ‘But what will it really show? The cause of my baldness, probably. My overweight - damned overweight! - and poor eyesight, possibly. But my love of plants? My love of nature? My ideas about garden peas? My love of teaching? My sense of humour? Surely none of those! There’s more to man than mere machinery!’

He was a man of meticulous curiosity and a fine mathematician. The thought that you can, in some sense, reduce a living organism to a kind of algebra would have amused him no end, not least because he would have seen that it is not, and indeed cannot be, the whole story. Indeed, how can a sequence of As Gs Cs and Ts in any real sense be one of his garden peas, or one of his beloved fuchsias? What is the code for beauty? However, the medical applications of genome sequencing would have appealed to him although I suspect he would have been cautious. Molecular genetics seems all the time to promise more than it actually yields and he would have been quick to point that out. But he was very much a man of the future and an enthusiast for progress. Obfuscation and ignorance appalled him. So, yes, bring on the sequences, but accept that we are merely opening the hidden door by reading our genes; it is barely possible to see any detail of the garden beyond.

-Simon Mawer

Big thanks to Simon for participating in the inaugural entry of the Redux series!

Simon Mawer’s homepage

See also the Field Museum’s exhibit called:
Gregor Mendel: Planting the Seeds of Genetics

George’s PGP Facial Photograph

gmc_facialphoto.jpg

George Church is not only the founder of the Personal Genome Project (PGP), he is also a participant (and my boss). This is his facial photograph, which will be part of his PGP participant profile. The white thing stuck on his forehead is a little measuring tape, which will help with both morphological research and reinforcing George’s image as a total geek.

Say hello to GenomeBoy

Misha Angrist, one of the first ten participants in the Personal Genome Project (the so-called PGP-10), has started a blog “GenomeBoy.com“. Great blog name. He explains the provenance:

When I told a friend that I was going to be one of the first ten subjects in George Church’s Personal Genome Project (PGP), she said, “Why you? What makes you so special, Genome Boy?” I thought that was funny. And so here it is. In the spirit of good sportsmanship, I will answer to”Genome Boy,” but don’t expect me to don the tights, mask and cape…at least until they’re ready.

With that comment, I feel nearly 100% confident that I will see a picture of Misha in tights before I die, I’m almost sure of it! I’m also sure that the blog content will be smart and funny. The title of his very first post references Spinal Tap, the hilarious mockumentary . (For the uninitiated: “Hello, Cleveland!” video segment from the film on YouTube)

Best Sentence I Read Today

Who knows how long it will take for personal genomes to become useful, but one thing is for certain, someday it will be said that it all started with the genomes of ten volunteers.

From a very thoughtful comment by Willy Lensch on this blog post about last Wednesday’s meeting with the first 8 volunteers and the staff of the Personal Genome Project (including me).

More notes on the meeting to follow soon…

Juan Enriquez on Genomics

TED continues to post videos of talks from past conferences. They recently posted Juan Enriquez’s presentation from 2004 entitled “Decoding the Future with Genomics.” Here it is:

 

Juan also wrote the popular “As the Future Catches You“. The book and the TED talk draw upon a lot of the same content. They also draw upon his evocative style. A snapshot of a page from his book shows how he uses design to help express a message:

typography

Here is the same sentence without the creative typography:

  If someone spent her entire life reading a copy of one person’s genome . . . she would barely finish . . . much less understand . . . or remember . . . what she read  

Less effective with plain old text or just less interesting?

Be sure to check out some of the other TED talks. My favorite talks so far are those by Hans Rosling (data never looked so good) and Malcolm Gladwell, a great storyteller. Who knew tomato sauce had such meaning to reveal about human preference? There is no one perfect tomato sauce, there are only perfect tomato sauces…

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