Archive for February, 2008


Hybrid vigor: the Westminster edition

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“Dog Breeders Unveil New Mastiffeagle.” The Onion must be stopped.

Are you listening, colorectal and testicular cancer advocates?

I am frequently asked what it will take to make personalized medicine a reality. If I’m being honest and not full of my usual bloated self-regard, I will shrug and say, “I have no idea. You should ask someone who might actually know.”

But if pressed and palpated, I would submit that if there’s a single thing missing from the roadmap to personalized medicine, it’s this:

A mascot.

Other folks have recognized this. To wit: Ladies and gentlemen, meet Prosty the Spokesgland©

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But wait, there’s more. The theme song, sung to the tune of Frosty the Snowman and meant to encourage the use of imaging rather than digital exams (yay!), is truly inspired. Dig the last verse:

 

Lumpety lump lump
Lumpety lump lump
Look at Prosty grow
Lumpety lump lump
Lumpety lump lump
No more bending over so

“It’s a boy, er, girl, Mrs. Walker, it’s a girl…”

Apparently some folks have yet to master the distinction between the X and Y chromosomes. Clearly there are unscrupulous genetic testing companies taking advantage of families; in my opinion those firms should have their pants sued off post-haste.

But, at the risk of sounding like a total fuddy duddy and cultural elitist, I guess what I really don’t understand about this story is the way some people view gender:

“I wouldn’t have had an abortion, but there are women out there who experience really big disappointment,” said Jolene Sodano, a stay-at-home mother in Nazareth, Pa., whose daughter was mistakenly identified as a boy. “They really want to give their husbands the little boy they want, or a little girl, and they will abort based on these results.”

I will never know for sure, but I would like to think that had my little girls turned out to be little boys or even little hermaphrodites, I would still love them more than life itself.

Dear GINA…you never call, you never write

I was watching Heroes on DVD last night, the episode where Matt Parkman’s wife freaks out when–ack!–a geneticist calls. I laughed.

I shouldn’t have.

Anyone wondering why personal genomics companies have sprung up like weeds in the last six months need look no further than page one of this morning’s New York Times. Amy Harmon has done her usual stellar job of zeroing in on the zeitgeist: people are afraid of what The Man is going to do to them on account of their genomes. And given what’s gone on in no less venerable an institution than the US military, maybe they should be afraid:

“I always warn them,” said Dr. Stephen Moll, director of the Thrombophilia Program at the University of North Carolina, who uses a genetic test to determine the best treatment for patients with blood clots. “Especially if they are self-employed, I don’t want it to be a surprise if their health insurance premium goes up.”

I would like to believe that actual cases of genetic discrimination are as rare as the rarest Mendelian syndrome. But it may not matter: if people are acting out of fear, then they are acting in ways that can jeopardize their health. It would be funny if it weren’t so heartbreaking:

Treatment for hemochromatosis typically involves removing a unit of blood twice-weekly by phlebotomy. But that would mean disclosing the condition to a doctor, so Mary is planning on becoming a frequent blood donor.

First do no harm,” anyone? How about you, Dr. No?

A different kind of hybrid vigor

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From the incomparable Stuff White People Like:

Some white people decide to pull the ultimate move. Prius, Apple Sticker on the back, iPod rocking, and Democratic Candidate bumper sticker. Unstoppable!

There are a few ways you can use this to your advantage. If you are carpooling to an event or party you can always say “can we take your Prius? my car doesn’t get good mileage and I feel guilty driving it.” And bam! Free ride!

Kumbaya, my Lord

Well, lookie here: Nature seems to have jumped on the PGP bandwagon:

Technology development guru George Church — aka the information exhibitionist — is playing a salutary social role with his Personal Genome Project. Church is in the process of gathering phenotypic data and sequencing portions of the genomes of ten volunteers, including himself (see page 763). He intends to study how the genes of these people — all but one of whom have revealed their identities — influence their phenotypes, and to make those data public. Church’s point is simple: information, including genetic information, can and should be freely available.

Whether or not one agrees with him, society had better be ready to deal with the results of such research, which is occurring against a background of explosive growth in the availability of genetic information.

The rest of the piece goes on to rightly excoriate Senator Tom Coburn (R-OK), a practicing obstetrician*, for singlehandedly putting the kibosh on GINA.

*What in Hippocrates’ name is up with these physician-legislators? Dr. Ron Paul is one of three (!!!) Representatives to vote against GINA versus 420 in favor! And remember Bill Frist and Terri Schiavo? Physician, heal thyself.

Hybrid vigor #1

I heard this on NPR morning and it inspired me. In this space from time to time I hope there will be something called Hybrid Vigor, that is, unlikely but somehow complementary collaborations that speak to the power of heterogeneity. First up is what caught my attention on the radio today, two giants who’ve left us within the past 15 months: the late great Luciano Pavarotti and the one and only Godfather, James Brown. Behold.

Free at very long last…

Today was a bittersweet day. One of my graduate professors in human genetics and a true gentleman, Bob Ferrell, is finally free of the yoke of his so-called “crime,” i.e., mailing some innocuous bacterial samples to an artist for a bio-art project. That’s actually great. What’s not so great is the fact that for Bob to get to this day meant enduring four years of FBI scrutiny, three strokes, two bouts with cancer and a partridge in a freaking pear tree. And oh yeah, a guilty plea and a pledge to roll over so the feds can try to build a case against the artist, who’s been charged with mail fraud for the $200 worth of bacterial cultures he received.

How’s that war on terror going, anyway? Are these our tax dollars at work?

Cross-Polonation

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For me (and it’s all about me, right?), one of the highlights of the Marco Island meeting beyond the amazing mango cheesecake was seeing an actual Polonator (note the human telomere sequence flowing out of it). Why should you care? Well, this is a DNA sequencing machine whose descendants will presumably yield 100,000 genomes (or at least exomes), including mine and perhaps yours. Even more interesting than the technology itself is the fact that the Polonator is open source:

The system’s operating software is fully documented and freely available for public download, as are the protocols and reagent sets. All aspects of the system are fully programmable, with parameters and sequences accessible and modifiable by its users to improve and extend the instrument. In addition, all subsystems are highly modular and easily upgraded and/or retrofitted; as a result, we fully anticipate that the instrument will evolve and improve over time. We expect a worldwide user community to develop and flourish, advancing both the design and the operational specifics of the platform, from which all users in turn will benefit.

The reactions to the open-source model from other next-gen types at the meeting ranged from unbridled enthusiasm (”a great idea”) to deep skepticism (”Who will support it?”) to bemusement/amusement (”sounds like another cute George Church concept–I have no idea if it will work”).

Jonathan Eisen has more on the Polonator as well as lots of other great stuff on Marco Island. He was also seen sporting a tee shirt that read “What Would Jesus Sequence?” An appropriate query, perhaps, in  the wake of Evolution Sunday.

The cow is out of the barn and she’s reading her gene journal

My response to the recent NEJM editorial on commercial personal genomics companies:

…many [personal genomics customers] will march into their doctors’ offices looking for help reading their genomic tea leaves. Most physicians, at least for the moment, are ill-equipped to deal with this. But does that mean the appropriate response is to simply pat patients on the head and tell them to wait a few years until the New England Journal says it’s OK?

That strikes me as both unproductive and naive.

Read the rest here.