As a molecular geneticist married to a cultural anthropologist, I often come across the question of ancestry testing. What can it tell me? How reliable is it? As with much about DNA, many people seem to think that it is more reliable than it actually is. I found the PBS special “African American Lives,” which uncritically presented DNA evidence for the origins of several prominent African-Americans, especially disturbing in this regard.

I was therefore very happy to see an article in last week’s Science on “The Science and Business of Genetic Ancestry Testing ,” make some excellent points. It should be read by anyone interested in this field.

I will just provide some excerpts:

Most significantly, and most generally, these tests “cannot pinpoint the place of origin or social affiliation of even one ancestor with exact certainty. Although wider sampling and technological advancements may help (16), many of the tests’ problems will remain.”

“An allele could have been inherited from a population in which it is less common. Consequently, many consumers do not realize that the tests are probabilistic and can reach incorrect conclusions.”

“For instance, the AncestryByDNA test suggests that most people from the Middle East, India, and the Mediterranean region of Europe have Native American ancestry (15). Because no archaeological, genetic, or historical evidence supports this suggestion, the test probably considers some markers to be diagnostic of Native American ancestry when, in fact, they are not.”

The last year has seen a tremendous proliferation of blogs on genes and genetics. They have been aggregated at The DNA Network, here at Nature Network and at PostGenomic. They are reviewed daily by Genome Technology Online, and can be organized at sites like scintilla and technorati.

What is this all for? One important role was illustrated by Jonathan Eisen’s post about the paper by Werren et al. (Widespread lateral gene transfer …) on the presence of Wolbachia DNA in host nuclear genomes. He gave “Adaptationomics Award #1” to the press release (not the paper), and the ensuing discussion on his blog, which included the authors of the paper, showed how scientist bloggers can provide a useful role by correcting the hype and confusion that often attends widely covered science news stories.

That role may become increasingly important as personal genomics develops. The excellent commentary in this week’s Nature by Steven E. Brenner (Common Sense for Our Genomes) makes some very important points. Even Jim Watson and Craig Venter don’t know how to make sense of their own genomes and the medical establishment has failed to make use of what they do know. “Given that most common drug prescriptions don’t even consider a patient’s weight, it is unclear how many future therapies will depend on the minutiae of our genomic make-up,” Brenner says. He then mentions an FDA-approved microarray test for P450 variants, one that determines how rapidly individuals metabolize various drugs, that is almost never used. In the same issue of Nature, a news article discusses the costs and regulatory barriers that are slowing the adoption of biomarkers for the initial signs of disease (“Missing the Mark: ... with little financial incentives to get the tests on the shelves, the idea is floundering.”)

It is the patient who has an incentive to learn all that he can. Although many people don’t want to know what’s in their genes (usually in the mistaken belief that there is little they can do about it), I do, and I’m not alone. We see a world coming where information about susceptibility to disease, potential for health or accomplishment and responsiveness to therapies is routinely found in our genes. If that world won’t get here because of economic incentives, it may nevertheless arrive because people demand it. Brenner proposes a Genome Commons, and states that “the incredible difficulty of integrating and interpreting multiple variants in an individual, each associated with a given trait … requires a resource like the Genome Commons and workable Navigators as prerequisites.” I like that vision of the future, but a lot about it remains very cloudy. Most people are not going to be able to use such a resource. Genetic counseling may morph into a profession that serves everyone, not just those who faced with clear cases of genetic disease. In a world where we all have a personal genetic adviser, who will license them? I believe strongly in the free exchange of information, but there will certainly be people who need to stopped, people with a test and a cure for whatever the public is most afraid of. Certainly, most people, and their doctors, and their genetic advisers, will continue to use the internet. Scientists who blog have a role to play.

Nature reported in January that the Association of American Publishers had hired Eric Dezenhall, who is famous for “aggressive” public relations, to argue against open access (“PR’s ‘pit bull’ takes on open access”, Nature 24 January, 2007 ). Now, PRISM , the “Partnership for Research Integrity in Science and Medicine” is here, taking a hard line against open access.

Their positions are Orwellian. Jonathan Eisen (in his blog entry “PRISM – Partnership for Research Integrity in Science and Medicine – Seems like a spoof but it is real, and sad“) finds several examples to poke fun at. I don’t think it’s possible for an informed person to read more than a paragraph on the PRISM web site and take it seriously. PRISM seeks to muddy the debate with inflammatory language and distorted views of the issues.

I am not saying that open access does not pose problems that need to be carefully considered, but to describe it in terms of “special interests” (who would that be, research scientists?) and “undue government intervention,” and to claim the side of “integrity” while “setting the record straight” is to declare war on reasonable debate. Throwing mud (or a prism) into the eyes of those who seek to see this debate clearly is an affront to the “scientific, medical and other scholarly researcher who seeks to advance the cause of knowledge.” No such researcher, whatever their views on open access, could possibly support PRISM.

What should we do? Scientific publishers cannot survive without scientists. Scientists can defend research integrity by thinking twice before entrusting their work to any AAP publisher, or before agreeing to serve as a scientific editor or reviewer for an AAP publisher. Scientists can make sure that their professional organizations do not support the AAP in any way.

The Association of American Publishers made a mistake by seeking to distort this debate. The AAP web site claims that the organization seeks “To promote intellectual freedom and to oppose all forms of censorship, at home and abroad.” Publishing is inherently about providing information, and it is not a field that naturally attracts people who prefer to win the debate than to find the truth. When the AAP hired this pit bull they were working against their own nature. They goofed. Like Michael Vick, they are free to change their ways. The pit bull can then go work for another client, one who has less to lose by offending those who care about integrity.

Hello Nature Network!

I’m using my first post here to introduce myself. I am Steve Mount , a geneticist in the department of Cell Biology and Molecular Genetics and the Center for Bioinformatics at the University of Maryland. I am interested in the nature of genetic information, especially that which determines how eukaryotes correctly process RNA transcripts into messenger RNA.

I got my Ph.D. at Yale, working with Joan Steitz at a time when her laboratory was making very exciting discoveries about snRNAs and splicing. I then learned molecular genetics while a postdoc at Berkeley with Gerry Rubin. My first faculty position was at Columbia and I have been at the University of Maryland since 1995.

My research involves both identifying the elements of primary sequence information that determine where (and whether or not) splicing will occur and determining which cellular components play especially salient roles in recognizing those signals. My scientific career coincides with genomics (the first complete genome, phiX174 , was published the year that I first worked in a laboratory), and I am drawn to genomes. In my research, I use comparative genomics to explore both splicing signals and splicing factors.

Most of my research exploits genetic tools in the model eukaryote Arabidopsis thaliana to directly investigate what sequences function as exonic splicing enhancers (or silencers), and the effect of mutations in SR protein splicing factors on phenotypes and global alternative splicing. You can read about my research on my web site .

What should you expect from this blog? To be honest, I can’t say. I’ve been experimenting a bit with blogs. Initially, I had one (Steve’s View ), but decided that comments on genomics did not mix well with vacation photos and consumer complaints, so I created On Genetics . I later created “Quick Notes on Genetics” and “News on Genetics” with the idea of separating quick reactions to the literature from more substantive commentary, but I later abandoned those (largely, because they are redundant with what I can do on Connotea ). My point is that what works for me can be hard to predict. I hope to become a frequent blogger here (weekly, or more often), but I’m not going to just post a pointer to articles that everyone on Nature Network has already heard about.

On the personal side, I am married to Janet Chernela , a cultural Anthropologist who is also at the University of Maryland. I play go and I practice intermittent fasting .

You will learn more by coming back here .