genomeboy.com

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!

CAP Today:

Last fall, Beth Israel Deaconess’ pathology residency program became what could be the first in the country to offer training in personalized genomics. The training includes lectures on current genotyping platforms, next-generation sequencing, genetic counseling, and the like, as well as the chance for residents to undergo genetic testing themselves. Dr. Saffitz hopes the training will not only introduce Beth Israel Deaconess’ pathology residents to the world of personal genomics, but also spur pathology residency programs at other institutions to include similar material. “Our goal is within two years to have every pathology residency program in the country incorporating something similar to what we’re doing—and having pathology as a discipline make a very bold and clear statement that we will do this in the future,” he says.

Beth Israel Deaconess’ effort was inspired at least in part by Dr. Boguski’s decision some time ago to have genetic testing performed on himself by three direct-to-consumer companies. “I’m the type of person who learns by doing,” he says. “I decided that rather than criticize this [direct-to-consumer testing] from the point of view of not having done it, I really did owe it to myself to see what was being offered to patients and how they might interpret this data, react to it, et cetera.”

Me, I’d rather criticize things I don’t know about.

What’s the story behind your blog’s name?

When I told a friend I was getting my genome sequenced, she said, “Why you? What makes you so special, Genome Boy?” I thought that was funny.

What do you think the greatest challenges will be for individuals in the future, as the technology makes accessing personal genomes more affordable?

There will be many. One will be logistical: How do we manage all of this data about ourselves? Another will be learning to think probabilistically: What does it mean to have a 35 percent lifetime risk of Type 2 diabetes? This gets at a larger question: How do we retrain ourselves not to view genes as destiny? They’re clearly not - we are incredibly complex creatures affected by thousands of genes and an infinite number of environmental stimuli. But that’s a hard sell, and as a consequence, genes have been marketed as destiny. We have to get beyond that.

The GET Conference 2010 marks the last chance in history to collect everyone with a personal genome sequence on the same stage to share their experiences and discuss the important ways in which personal genomes will affect all of our lives in the coming years.

Tickets are pricey. This is a (long overdue, IMHO) fundraiser for PersonalGenomes.org:

We foresee a day when many individuals will want to get their own genome sequenced so that they may use this information to understand such things as their individual risk profiles for disease, their physical and biological characteristics, and their personal ancestries. To get to this point will require a critical mass of interested users, tools for obtaining and interpreting genome information, and supportive policy, research, and service communities.

Four indigenous Namibian hunter-gatherers !Gubi, G/aq’o, D#kgao and !A?ˆ (referred to here as KB1, NB1, TK1 and MD8, respectively), each the eldest member of his community, were chosen for genome sequencing based on their linguistic group, geographical location and Y chromosome haplogroup representation (Fig. 1 and Supplementary Table 1). The Bantu individual is Archbishop Desmond Tutu (ABT), who represents Sotho-Tswana and Nguni speakers (from the broad Niger–Congo languages), the two largest southern African Bantu groups.

The importance of this paper, IMHO, is that these are the genomes of five identifiable Africans. Their photos appear in the manuscript.  If only everyone who’d been sequenced actually knew about it…

CNN:

Many parents don’t realize their baby’s DNA is being stored in a government lab, but sometimes when they find out, as the Browns did, they take action. Parents in Texas, and Minnesota have filed lawsuits, and these parents’ concerns are sparking a new debate about whether it’s appropriate for a baby’s genetic blueprint to be in the government’s possession.

“We were appalled when we found out,” says Brown, who’s a registered nurse. “Why do they need to store my baby’s DNA indefinitely? Something on there could affect her ability to get a job later on, or get health insurance.”

Just wait until they get hold of baby’s email.

(Hat tip)