genomeboy.com

23andMe co-founder and President of the nascent Brainstorm Research Foundation Linda Avey is blogging:

The usual arrows were flying at the HUGO conference…a few, very vocal scientists seem to be quite threatened by this notion of democratizing DNA. They characterize it as “trivializing”, which simply doesn’t make sense. I just don’t agree that providing people with their genetic data, which would be virtually impossible for them to derive on their own, demeans or trivializes it. Rather, I think the research community has taken the notion of “human subject protection” way too far, to the point of unchecked paternalism (for more on this, check out Anne’s post here, http://j.mp/RHIrX). And I do think the lay public is capable of understanding that what is currently known about their DNA is mostly a work-in-progress. (via Genomeweb and HUGO)

She also points to a fascinating website developed by someone in Vancouver who appears to have a lot of time on his hands. He underwent genome scanning from the Big Three and found that his results compared favorably to other accounts.

Genetic Future has everything you need to know about 23andMe’s foray into genetic research on ten common diseases. Here are what I consider to be the nut grafs:

It’s easy to be cynical about 23andMe’s motives in launching this initiative - this is, after all, a profit-making exercise rather than a research charity - but I suspect that many academics will be watching 23andMe’s progress in this venture with considerable interest. Modern genomics studies require mind-bogglingly large numbers of samples to achieve the power required to find subtle genetic associations, and recruiting those numbers of patients is far from easy. If 23andMe’s model proves successful in recruiting and maintaining large communities of patients, I suspect large academic consortia will at least begin to consider the possibility of pursuing similar approaches.

That actually puts 23andMe in a potentially lucrative position. In order for academic consortia to pursue the 23andMe model, they need to be in a position to return comprehensive results from genome scans to their patients and controls. However, providing such complex information to a lay audience is extremely difficult, and probably beyond the means of most academic groups. That means (as I noted back in March) there’s a potentially massive possible market for 23andMe here in providing a mediation service for returning research data to patients, and for providing the resources required to keep participants engaged actively in the research community.

Ever since 23andMe began shouting from the rooftops that it wanted to do research, there has been more than a little suspicion about what the company was “really” up to. I think Daniel is absolutely right: in the simplest terms, the company believes that there is an unmet need in genetic research (subject ascertainment, data collection, return of results to subjects) that it can begin to help satisfy and in doing so it will generate revenue. Some might argue that there are already perfectly fine mechanisms for informed consent and human subjects research in genetics. GWAS are great! The status quo rocks!

Others, ahem, have a different view.

For those interested in family history, the NIH is holding a conference in August:

The purpose of this state-of-the-science conference, open to anyone, is to develop a consensus statement that advances the issue of family history by assessing the available scientific evidence on:

• The key elements of a family history in a primary care setting for the purposes of risk assessment for common diseases
• The accuracy of family history, and under what conditions the accuracy varies
• The direct evidence that getting a family history will improve health outcomes for the patient and/or family
• Factors that encourage or discourage obtaining and using a family history
• Future research directions for assessing the value of family history for common diseases in the primary care setting

The details:

• Attend in person August 24-26, 2009 in Bethesda, MD  
• Or register to watch the live Webcast if you can’t travel to attend in person

Does family history really need a conference to generate consensus statements and “advance” the issue? I’m not sure. But I applaud the organizers for (presumably) holding family history to the same evidence-based criteria they so often demand of direct-to-consumer genetic testing.

(Thanks to Erica Holt for the tip)

President Obama will appoint a new bioethics commission, one with a new mandate and that “offers practical policy options,” Mr. Cherlin said

 ***

Under Dr. Kass in particular, the council was sometimes accused of being more ideological than its predecessors, but several bioethicists said that was not entirely fair.

“The other view is that all presidential commissions are structured in the context of a particular administration,” said Dr. Ruth Faden, a bioethicist at John Hopkins University.

Bioethics commissions, mostly at the presidential level, have been in existence since 1974. Composed mostly of biologists and ethicists, they have served to familiarize the public with new advances and have developed guidance on contentious issues like genetic engineering, human cloning and research on humans.

Under Dr. Kass the council produced reports with a somewhat philosophical bent on issues like the screening of newborns and how to determine death.

A sad day. I, for one, will miss being told not to eat ice cream in public.

(via GenomeWeb)

(CNN) – Earth Day may fall later this week, but as far as former NASA astronaut Edgar Mitchell and other UFO enthusiasts are concerned, the real story is happening elsewhere…Mitchell grew up in Roswell, New Mexico, which some UFO believers maintain was the site of a UFO crash in 1947. He said residents of his hometown “had been hushed and told not to talk about their experience by military authorities.” They had been warned of “dire consequences” if they did so.

[via The Awl, which I love]

Three-fourths of the nation’s doctors practice in small offices, with 10 doctors or fewer. For most of them, an investment in digital health records looks like a cost for which they are not reimbursed.It is scarcely surprising, then, that only about 17 percent of the nation’s physicians are using computerized patient records, according to a government-sponsored survey published last year in The New England Journal of Medicine.

“This is really not a technology problem,” observed Erik Brynjolfsson, an economist at the Sloan School of Management at the Massachusetts Institute of Technology. “It’s a matter of incentives and market failure.”

That market failure is a principal target of the Obama administration’s plan. A main feature of the legislation calls for incentive payments of more than $40,000 spread over a few years for a physician who buys and uses electronic health records.

Better late than never. 

The doctor who sparked the scare over the safety of the MMR vaccine for children changed and misreported results in his research, creating the appearance of a possible link with autism, a Sunday Times investigation has found.

It remains to be seen whether this will mollify the conspiracy theorists.

(via Balk)

Sway: I know people have piercings, tattoos. Eric, in particular, is talking about a ban on sagging pants. Do [you] feel like people should be penalized?

Obama: Here is my attitude: I think people passing a law against people wearing sagging pants is a waste of time. We should be focused on creating jobs, improving our schools, health care, dealing with the war in Iraq, and anybody, any public official, that is worrying about sagging pants probably needs to spend some time focusing on real problems out there. Having said that, brothers should pull up their pants. You are walking by your mother, your grandmother, your underwear is showing. What’s wrong with that? Come on. There are some issues that we face, that you don’t have to pass a law, but that doesn’t mean folks can’t have some sense and some respect for other people and, you know, some people might not want to see your underwear — I’m one of them.

Via the immortal Balk

Thanks to all who emailed me about the New York Times article. Amy Harmon did her usual stellar job. And in case you’re wondering: yes, skin biopsies hurt.

I have to say, this whole extravaganza felt more like a walk-through or a dress rehearsal. Several of us did not get our sequence data yesterday and those who did got very rough, low-coverage data. So besides the fact that assembling the ten of us is like herding cats, what was the point? I think there were two: First, to demonstrate that the PGP is indeed a community. While personal genomics is finally about the individual, if we are ever to to destigmatize this information, then I think it’s critical that we start to move away from the Venter and Watson “me me me” models. There are now 5000 people in the queue to be PGP participants. Which brings me to the second point: even though we are hardly the first to make our SNP data public, my hope is that our collective example might nudge still more folks in that direction.

A note on my still-to-come sequence data: As loudly as I’ve agitated for public release of genomic data on this blog, I have reserved the right to redact any or all of my sequence data and my Coriell EBV-transformed cell line. I am alone among the PGP-10 in doing this and I feel a little sheepish about it, but I am unapologetic. I have two young daughters. Yes, genomic information is probabilistic information and my genome is not theirs. But I have what I imagine every other loving father has: a fierce instinct to protect his children. If I carry a known mutation in a highly penetrant mendelian disorder, I want them to find that out from me and my wife, not from the internet or from some precocious classmate.

My public profile is here. I am bracing myself for the SSRI spam.

My SNP and sequence data will eventually be there as well. My SNP data will appear are on SNPedia very soon now.

Okay so maybe it’s not so new since the book’s been out for several months…Anyway, my review of Masha Gessen’s Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene, appears in the current issue of Nature Genetics (subscription only, sorry!):

Throughout this remarkable hybrid of a book—part memoir, part science journalism, part narrative nonfiction—Gessen demonstrates both her independence and her willingness to tweak dogma, whether it comes from guilt-ridden postmodernists or didactic medical professionals. Her sometimes conflicting goals are to discover what is possible for herself as a breast cancer ‘previvor’ and to quench her reporter’s compulsion to document and understand the genetic landscape as it shifts beneath her feet.