genomeboy.com

The world, it has come to me slowly, is the Devil’s motley, colorful instead of pure. I restrict my present canvases to shades of gray ever closer together, as if in the pre-dawn, before light begins to lift edges into being. I am trying, it may be, to paint holiness.

- from Seek My Face, by John Updike (1932-2009)

Researchers at Case Western Reserve University (where I received my doctorate back in the early Cenozoic) are studying the experiences of persons who have undergone commercial genome scanning. I am a participant in this study and I can assure you it didn’t hurt a bit…at least not so far.  The schpiel:

Have you used the services of 23andMe, deCODEme, and Navigenics, or Knome?
If so, we want to hear about your experiences!

Early adopters of Direct to Consumer Genome Scans, researchers at Case Western Reserve University want to talk with YOU!  

We’re currently conducting in-depth interviews with early-adopter/consumers of such tests to learn more about an individual’s decision to use Direct-to-Consumer genome scanning, and what s/he understands to be the benefits and risks of this technology, both for individuals and society. Our interview questions will address how the participant learned of whole genome scanning services, why s/he was interested in trying the technology, how s/he feels about the results, what’s been done with the results, and if and how s/he has used the results to inform individual healthcare decisions.

To learn more about participating in this study, please contact Marcie Lambrix via at 216-368-8753 or via email at mal31@case.edu

…The book also reveals that, during spring training in 1999, team doctors revealed to owner George Steinbrenner that Torre had prostate cancer - even before informing the manager himself.

On Saturday, my family and I boarded the Carolinian and traveled from Durham, NC to Washington DC. And we would have been on time too, if it hadn’t been for Barack Obama’s own rail journey. So we sat for an hour and a half. But we were in a forgiving mood.

It was to be a weekend of waiting and standing in lines. On Sunday we went to the We Are One concert and waited for 90 minutes to go through the security checkpoint. Once inside, the family found a place near the jumbotron. I waited 90 minutes to buy food. While there I marveled at the sea of humanity and how cheerful everyone was, even those of us with hungry and cranky children and those of us who couldn’t feel our toes.

The concert was fun and had a lot less schmaltz than I expected. Bruce Springsteen singing “The Rising” backed by a massive choir was as moving a performance as I’ve seen. Stevie Wonder, Sheryl Crow, Mary J. Blige, James Taylor, Bettye Lavette, U2…all were stirring and inspired. Even Garth Brooks’ THREE songs couldn’t ruin the moment.

More lines: People were queued up around the block in front of both the House and Senate office buildings to retrieve their inauguration tickets.

Everyone seemed to be cognizant of the significance of the moment, Corporate America included:

Tuesday–Inauguration Day–was pandemonium. The streets around the Capitol were clogged for a mile in every direction. It took us over an hour to go a few blocks. We wound up on the lawn “near” the Washington Monument. The family and I sat down on the grass for a while. But soon the crowd became progressively more dense and we had to stand up. It reminded me of the Who concert I attended in 1979. You could lift up your legs and the press of the crowd would keep you airborne. People literally could not move. It got to be rather scary; eventually I decided to get my kids out of there because I wanted them to be able to live through the next eight years.

We made our getaway and took in the scenery on the way home.

Despite lunatics like the one above, and despite my kvetching and congenital cynicism, it was a spectacular experience. Because of course,

What the cynics fail to understand is that the ground has shifted beneath them - that the stale political arguments that have consumed us for so long no longer apply. The question we ask today is not whether our government is too big or too small, but whether it works - whether it helps families find jobs at a decent wage, care they can afford, a retirement that is dignified. Where the answer is yes, we intend to move forward. Where the answer is no, programs will end.

There is much to admire about President Obama, but what appeals to me about him as much as anything is this: he is an empiricist. Which brings us back to the same forces that have driven the development of genomics:

We will build the roads and bridges, the electric grids and digital lines that feed our commerce and bind us together. We will restore science to its rightful place, and wield technology’s wonders to raise health care’s quality and lower its cost. We will harness the sun and the winds and the soil to fuel our cars and run our factories. And we will transform our schools and colleges and universities to meet the demands of a new age. All this we can do. And all this we will do.

Amen. Now back to work.

I spend many of my waking hours thinking about DNA. Not hydrogen bonds, histones and angstroms per se, but genes and genomes, SNPs, third-generation sequencing, gene patents, genetic testing, privacy, redaction, etc. Consequently, I sometimes get jaded. I take nucleic acids for granted; I think of them as a useful but quotidian aspect of life on earth.

And then I open the newspaper and read this:

Investigators said they are also looking for video accounts of the plane’s brief flight. They have split into teams and invited outside specialists, including some from the Department of Agriculture, who will help analyze the reports about birds. Ms. Higgins said that the engines’ internal parts will generally yield enough DNA to allow investigators to identify not only whether there were birds, but “down to precisely the exact type of bird,” said Ms. Higgins.

“None of us can do the things we did five years ago, not even you guys. Some of you are writing slower than ever. The stuff you talk about in the paper just don’t make sense. Some of you are dressing kinda funny.”

- Philadelphia Eagles quarterback Donovan McNabb educating journalists on human frailty

In the New York Times Magazine (11 January 2009), Steven Pinker writes eloquently and thoughtfully about his own genome and everyone else’s. A couple of my favorite passages:

Today, as the lessons of history have become clearer, the taboo is fading. Though the 20th century saw horrific genocides inspired by Nazi pseudoscience about genetics and race, it also saw horrific genocides inspired by Marxist pseudoscience about the malleability of human nature. The real threat to humanity comes from totalizing ideologies and the denial of human rights, rather than a curiosity about nature and nurture.

…

Assessing risks from genomic data is not like using a pregnancy-test kit with its bright blue line. It’s more like writing a term paper on a topic with a huge and chaotic research literature. You are whipsawed by contradictory studies with different sample sizes, ages, sexes, ethnicities, selection criteria and levels of statistical significance. Geneticists working for 23andMe sift through the journals and make their best judgments of which associations are solid. But these judgments are necessarily subjective, and they can quickly become obsolete now that cheap genotyping techniques have opened the floodgates to new studies.

Highly recommended.

Dr. Shalom Kalnicki, chairman of Radiation Oncology at the Montefiore-Einstein Cancer Center, says he tries to guide his patients, explaining the importance of peer-reviewed information to help them filter out less reliable advice. He also encourages them to call or e-mail him with questions as they “study their own case.”

“We need to help them sort through it, not discourage the use of information,” he said. “We have to acknowledge that patients do this research. It’s important that instead of fighting against it, that we join them and become their coaches in the process.”

Q: Don’t you think most of us want to be loved for who we are, as opposed to some artificially enhanced version of ourselves?
A: That will never happen. Are you out of your mind?

Joan Rivers on the enhancement imperative.