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In April 1986 Nancy Wexler appeared on 60 Minutes to talk about Huntington’s. “I’ve always believed in knowledge for its own sake,” she said. “And it is ironic that after working for precisely that, I’m finding it much more complex than I ever thought it would be.”

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Speaking once again on CBS in 2004, [Wexler] said, “I think there’s a huge amount of social pressure on people to get tested. I know that with me, if I were to go to bed every night thinking I’m going to die of Huntington’s, you know, why should I bother getting up?”

- From Blood Matters by Masha Gessen

They said it couldn’t be done.

(hat tip)

Two items of note:

• First, Dr. No has apparently said yes and so GINA appears to be getting her long-awaited day in the sun. Amazingly, we haven’t all expired from old age.

• Second, the ridiculous case against bioartist Steve Kurtz has been dismissed. Sometimes the justice system actually works…on the other hand, I’m not sure it worked terribly well for geneticist (and former teacher of mine) Bob Ferrell:

Originally charged with mail and wire fraud, Dr. Ferrell entered a plea in October to a lesser misdemeanor charge of “mailing an injurious article” which carried a recommended guideline range of up to six months in prison and a $5,000 fine. In a statement, his family said he pleaded guilty for health reasons. Since the prosecution began, he suffered three strokes and dealt twice with cancer, which is now in remission.

In February, Judge Arcara sentenced Dr. Ferrell to serve 12 months unsupervised probation and to pay a $500 fine. In exchange for his plea, Dr. Ferrell was required to cooperate with the case against his friend.

NEW YORK (GenomeWeb News) – The New York State Department of Health has sent warning letters to 23 firms involved in offering consumer genomics services and genetic tests to consumers, telling them that they need a permit to offer such tests and services, a department spokesperson told GenomeWeb Daily News today.

Jeez, you’d think these companies were trying to hold a parade or something.

You know, people, if you give a guy a few Navitinis, he’s probably not gonna remember much at all…

Just sayin’.

Hsien, as is her wont, has an outstanding summary of the issues surrounding the Genetics and Public Policy Center’s case study of pharmacogenetics and SSRI prescriptions. One narrative in the comments (by guess who) suggests that saliva diviners 23andMe, deCODEme and their ilk have ruined it for everybody and now Big Brother’s gonna have to step in and regulate the bejeezus out of the whole field. I hope that that’s not true — time will tell.

Genetic Future (about which I can’t say enough good things) points to Jennifer Couzin’s Science article on genetic risk:

Some concerns about the public’s reaction have already eased. Two years ago, behavioral epidemiologist Colleen McBride and human geneticist Lawrence Brody, both at the National Human Genome Research Institute, began examining how healthy individuals respond to disease risk information. They offered volunteers in Detroit, Michigan, the chance to learn whether they carried deleterious variants for eight health conditions, including diabetes, colon cancer, and osteoporosis. Because the variants are common, virtually everyone was expected to harbor at least a couple. Those monitoring the study’s safety “were really worried, literally, that people were going to jump off bridges” when they learned that their risk of disease was increased, says McBride.

Among the 300 or so who have participated, that hasn’t happened–quite the opposite. “They’re not having big emotional responses,” says McBride.

If that’s true–as it appears to be in Alzheimer’s as well–then how does that jibe with the “people-will-freak-out-if-you-tell-them-so-don’t” argument?

Like its competitors, 23andMe offers information about an individual’s disease risk. But it has also opted to emphasize more entertaining approaches to personal genomics, including using colorful visualization tools to look at a subject’s ancestry and compare it with that of celebrities from Jesse James to Benjamin Franklin and Bono. Now, to capitalize on the boom in social networking, the company will launch a genome-sharing tool that allows people to compare their genome with those of family members, friends, and even strangers who have offered up their DNA data. “It seems like the first natural curiosity people have is, where do I come from? What are my roots?” says Linda Avey, who cofounded 23andMe with Anne Wojcicki. “The next natural [question] is, how do I compare to other people?”

Thomas Goetz’s story on PatientsLikeMe in today’s NY Times is required reading. One can imagine hordes of physicians gagging on their Sunday morning coffee:

When patients take the reins of their own treatment, what role do doctors play? What’s to keep patients from misinterpreting the streams of data and finding false hope — and what’s stopping them from embarking on unproven and even risky treatments or dosages? And what happens if the real-world information at PatientsLikeMe contradicts the clinically proved protocols of medical science?

I’ll tell you exactly what happens: Human sacrifice, dogs and cats living together… mass hysteria!

Another quote of note:

Fournier, a self-described information junkie, relates all these details with a blasé precision. Her willingness to put so much information about herself online may seem immodest, even imprudent. But not to her. “I don’t worry too much about that,” she says. “Pretty much everybody I know over 45 has some kind of medical condition. Some people have had cataracts surgery, or they have high blood pressure, or high cholesterol or diabetes. Everyone has something. And if everyone has something, that really levels the playing field.” [emphasis added]

Ah, HIPAA, we hardly knew ye…

And so what about when these folks’ data are sold to big pharma? That’s the $64 billion question, not only for the drugmakers but presumably for potential patient pipelines like the personal genomics companies. But Goetz implies that drug companies are reluctant to eat from the Tree of Knowledge:

“…so far, it seems, the drug industry has balked at the prospect of knowing so precisely what happens to their products after they reach the market.”

Really? I thought this was all about amassing data, no? Could that reticence have something to do with why the pharmaceutical industry is mired in a decade-long slump?

I belong to a generation that grew up believing we were shaped by love, care, or lack of it — or perhaps even the number of books on our parents’ bookshelves. But we will go to our graves believing that it is a combination of letters in our genetic code that determines how we get there, and when. Our concept of the stuff we are made of will have undergone fundamental changes. I got a glimpse of that when I was looking around that room at my fellow mutants, and again and again…as I looked at myself, my biological daughter, and my adopted son. I was transported to a new era, a future that will rest on a different understanding not only of what causes things to go wrong in human beings but of what makes a human being in the first place, and what connects any one of us to any other.

- Writer and BRCA1 mutation carrier Masha Gessen, from Blood Matters