genomeboy.com

(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.

Dollars to donuts says that yours truly carries at least a maternal copy of this allele (subscription only, sorry) but is more likely homozygous for it:

Researchers at Yale have identified a gene mutation for “rumination” — the kind of chronic worry in which people obsess over negative thoughts. It’s a variation of a gene known as BDNF that’s active in the hippocampus, an area of the brain involved in thinking and memory.

Again, I’m not a genetic determinist, but sometimes the shoe seems to fit:

…Other people use worry as a kind of magical shield — if they worry that the plane will crash, it won’t. It doesn’t, ergo, they have to worry on every flight.

Fortunately there’s an over-the-counter treatment for us BDNFers:

Practice saying or writing whatever you fear most, such as, “the plane is going to crash” or “I’m going to lose my job.” “Repeat it over and over again slowly, like a zombie, and the fear will begin to subside,” [Dr. Leahy] says. Eventually, “you’ll just get bored with it.”

Unless, of course, you have a long list of fears…

A friend asked me about my decision to enroll in the PGP and the effect it might have on my two kids. By releasing my genome, he wanted to know, am I potentially limiting my children’s claim to privacy?

The short answer is yes. “Personal” implies it’s only about you, the sequencee. But you don’t have to be Gregor Freaking Mendel to know that it ain’t just about you. In the near term, familial disclosure may be the biggest elephant in the room for personal genomics.

If you want an idea of how this will play out again and again, read the front-page article in last Sunday’s NY Times about the 33-year-old medical resident, Deborah Lindner, her positive test for a mutation in the breast cancer gene BRCA1, her reaction, and the effect it had on her family.

Within the Lindner family, you see two types of folks, which Jason Bobe presciently summarized: the infovores and the ignotarians. The former see knowledge as power. The fact that their relative was found to carry a mutation was a call to action. They got tested for the mutation and, if they were positive too, they either continued to monitor themselves closely through mammography or else elected to have prophylactic surgery. The others, the ignotarians, did not get tested and in some cases derided Deborah’s decision to have a mastectomy–”Why is she mutilating her body?” they wondered. I suspect their objections were as much about being forced to confront and perhaps lose their ignotarian status as it was about anything else.

Despite my participation in the PGP, I am very sympathetic to the ignotarian position. Just because I have a toothache doesn’t mean I want to rush off to the dentist. My first course of action will be to ignore it and hope it goes away. I reckon that most of us have aspects of our lives in which we choose to be ignotarians.

I pray that nothing in my genome will cause my daughters anxiety. I can’t change their genomes, but as they get older I can counsel them about the evils of genetic determinism, I can tell them that what’s known about my genome is only probabilistic as far as they’re concerned. In other words, I can try to help them interpret what the information in my genome and/or theirs might mean. The option of choosing to remain a card-carrying ignotarian, however, will only get harder as time passes, and for them it may well be impossible.

I’m guessing that in the end it won’t matter–they will probably both have blogs and Facebook profiles and all the rest by the time they’re adolescents, just as they can’t get enough of that goddamn Webkinz right now. And I imagine by that time, posting one’s genome online will be no more taboo than posting one’s CV, or at worst, one’s slightly drunken Flickr photos.

But I could be wrong.

Welcome to genomeboy.com. Here are some throat-clearing preliminaries and disclaimers:

• My name is Misha Angrist. I am a recovering geneticist with a PhD from a once-proud institution that changes presidents with alarming regularity. I am also a writer. A meditation on genomics and intellectual property can be found here, a twee short story here and, for you masochists and archeologists of textual obscurity, a link to my doctoral dissertation here. Some time after my stint in the genetic research mines I went to writing school for two glorious low-residential years here*. Occasionally I try to write funny essays for my friend Nicole’s amazing zine, Hausfrau. Since 2003 I’ve worked as a science editor here. It’s a great job and I hope none of my bloviations at genomeboy.com will do anything to jeopardize it. As the man said, “One never know, do one?” (hat tip: Birnbaum)
• Let’s talk about the name of this site. (Just once, though–I promise.) 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 and mask. And know this: no capes.
• The answer to my friend’s question, of course, is nothing: Nothing makes me special. I simply volunteered for the PGP. I had the requisite “master’s degree in genetics or equivalent” and thought it sounded cool (so far, it is…I will keep you updated). Some of my bioethically inclined friends seem to want to have it both ways, however: they think we early adopters are to be excoriated for availing ourselves of the equivalent of a free trip to the moon. We dare to make a mockery of the scientific enterprise with all of this icky Celebrity Genomics**. At the same time, they say, by posting our DNA on the internet we are recklessly endangering ourselves and our families–we are assuming enormous risk by exposing our genomic dirty laundry to the world. I will have much to say on this subject and various other aspects of genomic privacy and confidentiality writ large and small. For now, to the alarmists I can offer only this measured, thoughtful and articulate response: pffffffft.
• I can’t promise to always be so temperate in my remarks. I hope when I use profanity it will not be gratuitous. Sometimes the language here may get salty and maybe gratuitously so; I don’t expect anyone will be permanently injured as a result. So, caveat, Blog Reader: if your sensibilities are delicate, best to click away now.
• I promise there will be plenty of personal genomics here. But, as I am fairly convinced I have some form of ADD, there will probably be lots of other stuff, too–comments about and links to books, litbloggy stuff, music and the occasional puerile YouTube, for example. For purists who want an unadulterated dose of personal genomics and don’t already subscribe to it or read it regularly, among the many wonderful sites listed on the right is The Personal Genome, whose proprietor Jason Bobe coordinates the PGP and is one of the smartest people I’ve ever met. TPG readers know that Jason is a true big-picture thinker (I, on the other hand, tend to be consumed with my own stupid little problems). Anyway, check out TPG–it’s a must-read if you care about this stuff.
• I welcome your comments, though I will moderate the bejeezus out of them. If you are trying to sell erectile dysfunction products or other spamalicious merchandise, you will be expunged. Similarly, if through your comments you reveal yourself to be a hostile assclown, you will be shown the door (benign assclownery, on the other hand, is at worst tolerated and usually condoned). So please try to play nice, follow the golden rule…yada yada. I will always try to walk the line between civility and snark and hope you will do the same.
• That’s enough of the pre-game show, methinks. I don’t want to make bold predictions about what the site will or won’t be. Because really…one never know, do one?

*Go ahead and trash MFAs all you want, kids, but I wouldn’t trade my time at Bennington for all the street cred in the world.

**And by the way, if you think I’m a celebrity, then you absolutely need to get out of the house more often (or turn on the TV). But you know, keep saying it because then maybe it’ll come true and I’ll be able to tell my parents that all of those years in grad school weren’t a total waste because they brought me Fame and Wealth.