genomeboy.com

GenomeBoy has moved. I have joined a fantastic new network of science bloggers. This blog will now lie fallow. Please come visit me here and check out my amazing colleagues in the PLoS Blogosphere.

This month, PLoS Genetics is publishing an article from the company 23andMe reporting the first genome-wide association studies (GWAS) on multiple traits ascertained by self-reported information provided through the Internet from over 10,000 participants who pay the company for providing whole genome genotypes [1]. The paper passed through scientific review by a panel of three experts relatively quickly and is sure to attract the attention of anyone with freckles, curly hair, or an aversion to asparagus. Novel associations are described for four intrinsically interesting traits (out of 22 considered), while known associations with hair and eye color are replicated in a dynamic data-gathering context. Additionally, intriguing observations on the interaction between genetic self-knowledge and self-report of phenotypes are described. The implications of the successful application of this Internet-enabled approach to GWAS research were considered to be more than sufficient to warrant publication in the journal.

 

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The editors of PLoS Genetics recognize that the decision to publish this study, without IRB review as human subjects research and with some concerns over the consent document, and the fact that there is limited access to the raw data, will not sit well with some, perhaps many, readers. As outlined above, though, a prima facie valid IRB exemption was obtained, and, while there are ambiguities in the consent form, there was no evidence that these amount to an inadequate document. After considering all of the evidence, we decided that publication, accompanied by an editorial providing transparent documentation of the process of consideration, was the most appropriate course.

Seems like this Interwebs thing might be starting to catch on.

(Hat tip: the indefatigable Bora Z) 

This is 17 kinds of awesome:

Scientists are to map Ozzy Osbourne’s genetic code in a bid to find out how he is still alive after decades of drug and alcohol abuse.

(hat tip)

UPDATE: “Throw some fag ash on his cornflakes.”

(hat tip #2)

The only way I was ever going to get a first-author publication in Nature was if I just made it all up. So that’s what I did. Hat tip to David Dobbs for providing the scientific inspiration.

Sorry if it’s behind a pay wall. Email me and I’d be happy to send a pdf.

Dan Vorhaus has written his usual cogent and insightful review of the issues raised by Amy Harmon’s piece on the Havasupai tribe and its settlement with Arizona State University. In my view, the core of the matter is fairly simple:

“I’m not against scientific research,” said Carletta Tilousi, 39, a member of the Havasupai tribal council. “I just want it to be done right. They used our blood for all these studies, people got degrees and grants, and they never asked our permission.” [emphasis added]

If, as researchers, we can’t be bothered to 1) tell research participants what they’re getting into insofar as we know; 2) respect their cultural beliefs; 3) go back to them if our plans change and ask for their consent again; and 4) share with them what we find and what we think it means in a timely and ongoing fashion, then we will find human subjects increasingly hard to come by…and increasingly litigious.

Times Online:

RICHARD DAWKINS, the atheist campaigner, is planning a legal ambush to have the Pope arrested during his state visit to Britain “for crimes against humanity”.

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Dawkins, author of The God Delusion, said: “This is a man whose first instinct when his priests are caught with their pants down is to cover up the scandal and damn the young victims to silence.”

On April 24th and 25th in Cambridge, MA, the Boston Open Source Science Lab will be amplifying and sequencing genes for anyone with 40 bucks.

Together, we’ll use the polymerase chain reaction (PCR) to amplify a fragment of one of your genes and have the DNA sequenced. The event will be part of the Cambridge Science Festival and will run from 12 - 4 pm on April 24th and 25th.

We’re doing it at the bosslab, located at 339R Summer St, Somerville, MA 02144, at Sprout. The cost of materials is $40 / person.

I will provide primers that will enable us to amplify sections of several popular genes. If you have a particular gene of interest, please get in touch…

That sound you hear is hundreds of clinical geneticists’ panties getting in a wad. And maybe a few IP lawyers, too…

See you there, you DIY rascals you!

Cystic fibrosis screening in the real world:

Dr. Highsmith agrees that one “extremely good aspect” of CF newborn screening programs is that when an affected baby is identified and brought to a CF center, “you certainly get clinical improvement.” However, he asks, “What happens when you find carriers?…what is the cost of that strategy from both a medical and a parental stress viewpoint?”

Am I to understand that one of the complaints against newborn screening for CF is the “unintended consequence” of finding carriers? Hoo boy.

 UPDATE: full episode is here.

Don’t miss Rebecca Skloot tonight on the Colbert Report. Extra special guest: The BioBus!

The Lancet has retracted a 1998 paper linking the Mumps-Measles-Rubella vaccine to autism. The journal’s editor spoke to On the Media this week.