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.

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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!

January 30, 2008 | Filed Under Zeitgeist, Thought Leaders | 1 Comment 

Figures from History, Redux 1: Gregor Mendel

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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!

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Simon Mawer’s homepage

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

January 8, 2008 | Filed Under redux, History of Technology / Science / Medicine, Thought Leaders | 3 Comments 

George’s PGP Facial Photograph

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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.

October 3, 2007 | Filed Under Thought Leaders | 1 Comment 

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)

August 20, 2007 | Filed Under Thought Leaders | 1 Comment 

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…

July 24, 2007 | Filed Under Predictions, Thought Leaders, Genomic Data, Sequencing Technology | 4 Comments 

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?
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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…

June 18, 2007 | Filed Under video, Thought Leaders | Leave a Comment 

Video: Rep. Louise Slaughter reflects on 12 year old GINA

Here is Representative Louise Slaughter (D-NY) discussing the importance of GINA on the House floor yesterday:

(If you’re reading via RSS, you might need to go to my site to view the embedded video)

The bill passed in the House 420-3.  If you’re curious, the 3 Nays were Representative Jeff Flake (R-AZ), Representative Ed Royce (R-CA), and Representative Ron Paul (R-TX).

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H.R. 493, Genetic Information Nondiscrimination Act  (PDF)

Full proceedings from the Congressional Record, April 25, 2007, ~20 pages (PDF)

April 26, 2007 | Filed Under video, policy, Insurance, Thought Leaders, Genomic Data, Genetic Testing, Legislation | Leave a Comment 

Hodosh to lead Archon X-Prize for Genomics

The Archon X Prize for Genomics has appointed Marc Hodosh to lead the $10 million competition. Hodosh is an entrepreneur and tech geek who recently chaired a robotics competition for segway inventor Dean Kamen.The Archon X Prize will be awarded to the first group that can “build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced, with sequences accurately covering at least 98% of the genome, and at a recurring cost of no more than $10,000 per genome.” In other words, the winner must be able to sequence 100 human genomes in 10 days for a $1 million.

The X Prize Foundation has published a video describing the competition, check it out:

So far three teams have registered to compete, including VisiGen Biotechnologies, 454 Life Sciences, and the Foundation for Applied Molecular Evolution.Here are the competition guidelines (PDF).Want to compete? Register here (PDF).

March 14, 2007 | Filed Under Thought Leaders, video, Future: scitech, Future: healthcare, Sequencing Technology, Genomic Data, Sequencing Cost | Leave a Comment 

Video: Virtual Genomic Counseling vs. Face-to-Face

The PBS television station KQED in San Francisco recently aired a very thoughtful segment comparing online genomic counseling through DNA Direct to traditional face-to-face counseling via UCSF.  Check it out:

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KQED, Genetic Testing through the Web. Feb 20, 2007.
Full discolure: I am employed by DNA Direct.

March 1, 2007 | Filed Under Technology, Genetics Profession, video, Direct-to-Consumer (DTC), Thought Leaders, Genetic Testing, Future: healthcare, E-Health | Leave a Comment 

Video: Craig Venter on Colbert Report

Hat tip, Pedro and to those who forwarded this to me.

March 1, 2007 | Filed Under video, Thought Leaders, Future: scitech | 1 Comment 

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