ASHG released recommendations today about how researchers and direct to consumer companies should treat the sometimes fraught area of genetic ancestry testing. Although a seemingly innocuous area both for research and for consumer products, ancestry testing does carry with it tricky ethical, legal and social issues when one considers how people might treat such data. I did a quick Q&A with Charmaine Royal of Duke University, who co-chaired the task force on the topic (find it here).

At the press briefing today, announcing the recommendations, I got to talk briefly with Joanna Mountain, senior director of research at 23andMe, one of the companies providing such tests.

She said the recommendations were provocative, but vague. Why, she asked, if they were going to make a big deal about how people might try to use ancestry tests to claim rights in affirmative action or for inclusion into specific groups, did they fail to provide any actual policy recommendations? Royal indicated to me that they’ve just begun to scratch the surface, here. Interestingly, Native American groups are keenly aware of the issues and will not allow identification with a particular tribe based simply on a genetic test, at least that’s what I’d heard at a session yesterday on the topic.

It is important to note that ASHG’s recommendations (you can find them here) were aimed both at academic researchers and those at direct to consumer companies. Mountain says, though, that 23andMe hadn’t been contacted and she suspects the task force hadn’t consulted with any of the companies. But as Royal said, there’s still a lot to be done including consulting with a broader swath of interested parties.

As a special treat, I’ve got a guest post from former genetics editor at Nature Chris Gunter. She’s also twittering the event here. How hip!

Aravinda Chakravarti’s presidential address was, of course, thoughtful and fun. He pointed out that it’s our responsibility to educate the public about genetics. I have been coming to the ASHG meeting since 1993, and have worked directly for two ASHG presidents and with many others. I believe every single presidential address I’ve seen since 1993 has made a similar call, for us to engage the community in education. In the age of direct-to-consumer genetic testing, we all know this is more important than ever.

Unfortunately, this morning’s session on “the future face of genetics education” was sparsely attended, with only about 100 people. At the risk of repeating a cliché, all geneticists need to be educators, so I wish more people would take a more active interest in the area. It didn’t help that the ASHG scheduled six (SIX!) sessions at the same time and every one was interesting. The speakers discussed introducing genetics at all levels of education (full disclosure: two are colleagues from HudsonAlpha and one is a former colleague from NPG), and ways to measure what we need to teach and how we need to teach it. Many of the scientists attending the meeting will be teaching at some point in academia, or will be talking with their family and friends about genetics. Where were the scientists this morning?

Similarly, the plenary session featured a talk on public attitudes toward genetic testing. People literally streamed out in droves right before this talk; they stayed for several research talks beforehand, but didn’t want to hear a data-driven study about how we should most effectively engage the public.

This brings me to ask: are we serious about education, or not? Are scientists really uninterested in hearing about education, and how do they think they can afford to feel that way?

Posted on behalf of Chris Gunter, HudsonAlpha Institute for Biotechnology

**Update: Link fixed. Sorry Chris!

Geneticists are taking an increasing interest in copy number variants (CNVs), genetic sequences that can be repeated or deleted from individual to individual. I might have two copies of a gene, while my wife might have three. These are a major source of genetic variation and have been implicated in contributing to important diseases. Alexandre Reymond of the University of Lausanne explained work he’s been involved with to characterize CNVs in mice. Looking at lab strains and several wild mice, they uncovered nearly 3000 of them. Then to understand how these CNVs might be affecting phenotype, they looked at gene expression in different tissue types in the mice to see if genes in and around those CNVs might be differentially expressed depending on how many copies there were. In five out of six tissue types they tested, as many as 2/3 of the CNVs they looked at were differentially expressed. The brain only showed 1/3 of CNVs affecting gene expression and generally doing so in a negative fashion. They found that genes far away from the actual CNVs could be affected, and one experiment suggested that the effects could span 10s of millions of basepairs, affecting the expression of quite distant genes. They also looked at expression during different developmental stages in the mice for brain and liver and found that while expression for 2/3 of genes in CNV regions were always affected in liver, brain CNVs appeared to be controlled differently at different developmental stages. Their findings had several people asking about how epigenetic changes like histone tail modifications might be influencing expression changes. I wonder how the brain specific differences square with discoveries linking CNVs to autism and schizophrenia in humans. Might there be a mechanism to protect the brain from CNVs that goes haywire for those affected?

Ancestry testing can be a sensitive subject as evident in a packed morning session discussing some of the social and education aspects of ancestry and genealogical testing. While genetics has a long and sordid past with the term race, it remains a fact (possibly as a vestige of how populations have been studied) that ethnic groups show distinct genetic signatures associate with commonly delineated ethnic groups, and there could be health benefits to using this information. Esteban Gonzalez Burchard at the University of California San Francisco studies African American and Latin American groups. He talked of one project on Multiple Sclerosis that he had been collaborating with. Multiple Sclerosis is predominantly a disease affecting people of European descent. Africans are rarely affected. So his group sent out requests for African Americans affected by the disease and used ancestry specific markers to zero in on portions of the individual’s genomes that might identify a European risk factor migrating through the genome. U.S. Television talk show host Montel Williams was a volunteer.

The series of talks ended with some rather passionate debate about the value of race as a term or even as a concept. While one questioner approaching the microphone at the end of the presentations pressed the panel and all in attendence to end its “love affair with the term.” “Given that science has clearly shown that humans don’t meet the biological definition for race, why can’t science provide some leadership?” A genetic counselor was equally adamant that we don’t avoid such terms just in the interest of being PC if they can provide useful health information.

Last night the American Society of Human Genetics meeting started in Philadelphia and kicked off with a crowded mixer featuring classic Philly fare (hoagies and pretzels). I asked Aravinda Chakravarti what he thought the major themes of the meeting would be. He said he was glad to report that the field has moved slightly away from data to new ideas. New ideas including better understanding of the genetic structure of disease and the characterization and understanding of the meaning of structure in the genome, including copy number variations (a term that appears in the abstract book more than 200 times). That’s not to say that data have taken a back seat. It’s no secret that the data are pouring out from new sequencing technologies. Illumina staged a brief press conference featuring the three papers appearing last week in Nature that presented four new full human genome sequences, those of an Asian individual, an African individual and one from a woman and from the cancer that she eventually died from.

Stay tuned for most posts from the field, and possibly some guest posts.

Last night, NIH director Elias Zerhouni warmed up the geneticists with a sure-fire crowd-pleaser: a joke about the mishaps of Vice-President Dick Cheney, who’s in town for a Republican fund-raiser. Zerhouni apologized for the bad traffic yesterday, which was all tangled up due to Cheney’s motorcade. Zerhouni said he’d asked Cheney to divert his motorcade away from the convention center. In reply, Cheney invited Zerhouni on a hunting trip. “But I said no – I have a prior commitment to the American Society of Human Genetics,” Zerhouni said, adding after a small pause: “That was an act of self-preservation.”

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Even just walking to and from the convention center here in New Orleans, it’s impossible to miss the fact that this city is still recovering from the mass disaster of Hurricane Katrina last year. Lots of businesses are empty or shut down. Workers are still clearing away rubble and there’s small damage on some of the buildings. And this isn’t even the part of town that was most affected by the storm.

Today, a handful of geneticists talked about their work to help the city recover. The geneticists were part of the team that tried to reunite families with their lost loved ones – whether dead in the storm or missing in its wake.

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A quick sampling of three Fab Facts I learned today:

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OK – so genetics hasn’t delivered a slam dunk cure for fat. You still have to give up chocolate cake if you want to lose weight. As our interloper asked this morning, what gives? Where’s the wonder drug that’s going to save our sorry asses from dieting and exercising?

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Sorry about the rocky start, folks – but I’m not the only one having trouble out of the starting gate! This morning, the geneticists got their own cold water in the face at a session on diabetes and obesity.

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