genomeboy.com

James P. Evans, a genetics professor at UNC-Chapel Hill, cautions against making too much of genetic information.

Even if Angrist or one of his fellow participants learns he has the gene for a horrible disease. that is far from a guarantee that the disease will ever occur, Evans said. Even in a larger group of donors, Evans said, it would be difficult to make solid medical decisions based on what DNA shows. A woman whose DNA suggests future breast cancer, for example, shouldn’t necessarily run out and get a mastectomy.

“The information one gets is virtually all probabilistic; it’s not actionable information, medically,” he said. “To me, the biggest danger is that its utility will be exaggerated because people put this mystical value on DNA.”

As usual, Dr. Evans is absolutely right.

I appreciate the reporter’s hard work and I like the story, but I would offer a few corrections/clarifications:

• “Americans are notoriously hung up on privacy, and I get that,” he said. “[But] I don’t think that information is toxic.” That is an accurate quote, but that doesn’t mean I think we should all walk around naked or read each other’s mail.
• “When you make everyone anonymous, you impoverish the data,” he said. “You may have that person’s DNA, but you don’t have a name or a lot of the details that you may want someday.” Again, accurate, but I shouldn’t have emphasized names. I should have said that re-contacting research participants is important and you can’t do that when you sever the link.
• Since then, two pioneers in the field, James Watson and J. Craig Venter, allowed their DNA to be totally decoded and made public.  At the risk of nitpicking, Watson wanted his genotype at the Alzheimer’s risk gene APOE redacted. Alas, it couldn’t be done.
• In Angrist’s case, DNA was taken from a graft of his skin and mechanically sheared into smaller pieces; it will be put through a complicated, multistep process until the sequence is determined. Angrist’s DNA sample was taken in late October, and he hopes to have his genome sequence information within weeks. Actually, my genome sequence will be determined from white blood cells I donated in 2007. My skin cells will be used to create a cell line that is stem-cell-like.
• A native of Pittsburgh, he came to Duke in 2003 and works primarily in the areas of intellectual property and gene patenting. While it certainly feels that way at the moment, I’d like to think my work encompasses a lot of other stuff too: personal genomics, teaching, science writing, etc.
• [”Alzheimer’s is] in your 70s,” Angrist said. “Something that’s going to happen to me 30 years from now is not going to keep me up at night.” Of course I realize that many people develop AD much earlier. I did not mean for this to sound as blase and callous as it might. My point was, I have plenty of other stuff to worry about for the next couple of decades.

Jason has a comprehensive roundup of press coverage of Monday’s festivities. Closer to home, the Duke Today website attempts to cure insomnia by linking to this blog. If you go there and scroll down, you can take a poll on whether making one’s genome public is a good idea.

Remember cycle sequencing? No? Remember grunge?

Jeez Louise, you’ve got to wake up pretty early to beat these folks to the punch. Anyway, as they point out, the September/October issue of Technology Review features an opinion piece by yours truly:

As a participant in the Personal Genome Project, I’ve been asked more than once, “So…what will you do with your genome?” I have two boring stock answers, at least for now: not much, and I don’t know. But I do want to learn about my genome. I see personal genomics as akin to the first personal computers. What could we actually do with the Commodore 64 or the Apple II? Word-process? Occasionally. A bit of Lotus 1-2-3? I guess. Mostly, I remember software crashes and hardware freezes. In my house we managed to play a lot of solitaire and Minesweeper.

Obviously there’s not much to see here (other than the above photo of Django in repose). I am traveling around New England, trying to write and trying to prepare for the fall semester. Back soon, I hope…God knows I miss the spam…

“The author and his daughter, Lena, who has half his DNA.”

People often assume that because of what I’m doing and because I write a blog called GenomeBoy, that I must be a starry-eyed genome worshipper. But if anything, getting genotyped has reminded me how much more we are than our DNA. All of those common-sense behavior changes actually matter. We are the products, finally, of our genes and our environments. And there is nothing mystical about either.

(l to r) Brian Greene, some photobomber, Paul Nurse, Nikolas Rose, Jim Evans, Francis Collins

The World Science Festival was as delightful as advertised. The street fair was overflowing with stuff to do, especially for kids. Next year I hope to bring mine. Bravo to Brian Greene!

I don’t know how my fellow panelists or the audience felt, but I thought our session, “Your Biological Biography,” was both fun and engaging, largely due to the masterful moderating job of Sir Paul Nurse, who is the antithesis of the stereotypical egocentric Nobel laureate/major university president. He is quick-witted, modest to a fault, and a brilliant conversationalist, someone you could chat with for hours on just about any subject. Drs. Rose, Evans and Collins responded in kind with thoughtful and nuanced discussion of personal genomics and all of the surrounding medical, legal, ethical and social issues. My only regret is that Dr. Latanya Sweeney was not able to make it and share her insights on genomic privacy.

I talked about getting my SNP data from George and from Navigenics, the limitations of it, SNPedia, my family history, my own curiosity, and how I’m probably not a terribly zealous early adopter after all. At the end I tried to make two points. One is that genome scientists themselves are succeeding in killing genetic determinism where bioethicists and philosophers have failed. That is, by finding that traits like type 2 diabetes and height are influenced by some ridiculous number of genes and the environment, genomicists are putting to rest the notion that single genes typically exert powerful, inexorable effects that determine who we are. Yeah, that happens in some cases, but complex traits are still complex, which makes accurate genetic predictions harder to achieve and genetic discrimination even harder to justify.

The other thing I tried to get across is that simply trashing personal genomics companies is not terribly helpful. Whatever their shortcomings (and they have plenty), these companies are here to stay in some way, shape or form. The more productive things to do, in my opinion, are to find out why people want this information, what their expectations are for it, how it should and shouldn’t be regulated, and how personal genomics, in all of its guises, can be assimilated by both the health care community and the public in useful ways.

A programming note: On Saturday afternoon I will be at the World Science Festival, which looks like more fun than people should be allowed to have. There I will infiltrate…pretend I belong on…annoy…er, appear on an otherwise esteemed panel, including Nobel laureate Paul Nurse, NHGRI Director Francis Collins (what the…?), computer scientist Latanya Sweeney, sociologist Nikolas Rose and geneticist Jim Evans. We will be talking about how personal genomics affects/will affect our lives; my genome and phenome (yawn) and, I expect, the PGP will be topics for discussion. Please stop by and say hello if you’re so inclined. (Thanks to the indefatigable Alison Snyder for making this panel happen.)

And even if genes and identity aren’t your thing, I encourage those in the NYC area to check out the rest of the Festival. Brian Greene, Tracy Day and company have done a masterful job in putting together an amazing program. It’s dork heaven. baby!

Six.

That’s how many times I was asked to repeat my name, social security number and date of birth to the technicians at the American Red Cross today. This is how we protect blood recipients?

Hi Mike:

…Thank you again for running the Promethease report on my genotype data. It’s quite remarkable and something one could spend days perusing–I probably will. When the time comes I will have no problem making it public.

But, having thought long and hard about this, I’ve decided that that time is not today. I want to wait until the PGP-10 data are released en masse before sharing my SNP data. There are three reasons for this:

1. Time for reflection. I will only get to make an initial disclosure once. Yes, my Affy 500K results are 500,000 “facts” about me, but collectively they still represent but a single, lonely organismal data point–just 0.02% of one guy’s genome. Thus, the data are not of much scientific use to anyone and so I don’t see a pressing need to throw it all out there without at least availing myself of the opportunity to look it over in private first. Plus it will certainly make my wife happier if I wait (the value of this last point cannot be overstated).
2. Mediation. Your site is fantastic, but it is finally a DIY, labor-of-love endeavor–you have no contractual, fiduciary or medical obligation to me (nor should you). I understand, I hope, that these are just risk alleles, the changes in absolute risk they confer are still pretty small, these alleles don’t work in a vacuum, some associations are tentative, everything is subject to change, etc. I am not a genetic determinist. But I do think for my first time out of the box, I would prefer to go through the process in a slightly more mediated, hand-holding way, which I am hopeful the PGP and perhaps a commercial service will provide. Yeah, I know: some Genomeboy I turned out to be…
3. The PGP process. I have absolutely no problem with what my fellow-PGP participant John Halamka did in disclosing and blogging about his SNP results — he is an early adopter extraordinaire and he should be commended for his willingness to do all of the courageous things he does and to do them alone. But for me personally, I want my data release to be part of something bigger. In one of my early interviews with George in February 2007, he talked about some of his own misgivings about outing himself as the first PGP subject and about how he would like the PGP to function as a team:

…’fessing up that you’re in a study is different from putting your DNA out into the public domain. Hopefully the PGP subjects will confer with each other and with the PGP team before they do that, [though] it will be within their rights [not to do so]. I won’t get very upset about it…

…I just think it’s a team effort and you need to have a little bit of team consideration. Even if it’s something you all plan to do eventually, maybe you all want to do it together, maybe you want to have a press release, maybe you want to make sure that the look and feel of the database are up to snuff before you do it. There are timing issues, there are issues about [how to] portray it in a positive light but with enough discussion of the negativity. I think that requires some nuance that the really gung-ho people will be too impatient to do. I think this is a work in progress, a successive approximation…

In the post-23andMe, post-Venter/Watson age, that view may seem quaint and naive, but it’s a sentiment that still resonates strongly with me and so this slight delay is what I am opting for. The world has waited this long for my SNP data–I suspect it can survive another few weeks.

best regards,
Misha

Update: Mike says, “All good reasons, but only one is necessary: It is your data.”

I received this last week just before I left town. No, it’s not a bar mitzvah invitation…it’s more like a birth announcement, I suppose. Navigenics sent me an offer to become a “charter member” and a 20%-off coupon (which seems to have expired already). Even though the Personal Genome Project will soon genotype the bejeezus out of me (if it hasn’t already), I am still keen to use one or more of the commercial services. I’m still not sure about which one(s) (or how to pay for it), but I think if I am to write about these companies with any sort of authority, then it’s only right to have walked the walk at least once.

UPDATE: Navigenics co-founder and CSO Dietrich Stephan informs me that the invite was mailed with plenty of time before expiration. I should say I didn’t mean to point the finger in anything other than a teasing way and, coupon or no, the Navigenics folks have been nothing less than gracious and helpful to me. For that I am grateful.