Be afraid of fear, not personal genomics.

It's just the way it is now. This headline. This story.
(click to read/hear)

As Genetic Sequencing Spreads, 

Excitement, Worries Grow

It follows the recipe. (1) Start with a headline that demonstrates controversy. (2) Present a story about science-related news (which does not require controversy to be news). (3) End it ever-so briefly and vaguely with dissent, doubt, outcry or warning. 

This recipe applied to personal genomics is particularly bad.

If you read or hear that story you might be primed before you start to wonder, okay what's the worry? Glad this article will tell me, finally, what we should be concerned about concerning this brave new world of personal genomics.

But you'll be sorry when you reach the end and this is all you get:

But the idea of widespread sequencing is setting off alarm bells. How accurate are the results? How good are doctors at interpreting the results, which are often complicated and fuzzy? How well can they explain the subtleties to patients? The fear is that a lot of people could end up getting totally freaked out for no reason. And there are concerns about privacy. Scientists recently even sequenced a fetus in the womb, raising the possibility of everyone getting sequenced before or at birth — a prospect with a whole new set of questions and concerns. "I think there are lots of populationwide and individual dangers," said Mark Rothstein, a bioethicist at the University of Louisville. "We're basically not ready for a society in which very exquisite, detailed genomic information about every individual, potentially, is out there."

Why? Tell us? And I don't mean the "us" who have access to the academic journals. Or the "us" who have the patience to bushwhack through the jargon. I mean, here is your chance to share with the public who you're concerned about: Since you brought it up, tell us why we should worry.

It's unclear who deserves the complaints and the criticism for producing pieces like this, since much of the "telling us" that I'm begging for might be lying on the cutting room floor.

I'm clenched about this because right now about 20 students in my Human Varition (Anthropology 350) course at the University of Rhode Island are voluntarily participating in genotyping through 23andMe. And I'm using this curriculum for the second semester now. After last spring, where over 100 students in both Human Variation and also the introductory level Human Origins (Anthropology 201) did 23andMe, not one student got "totally freaked out." This along with much of my experience with genotyping and undergraduates indicates that, with education and with understanding, personal genomics does not induce fear. Not coincidentally, participating in personal genomics aides in education.

And the same fear that I'm trying to mitigate through education is the same fear that some journalists and ethicists seem to be perpetuating if not creating.

In my experience, if you're informed, you're likely to appreciate biological complexity rather than cling to genetic determinism. If you're informed, you understand the positive and negative consequences and aspects of personal genomics. If you're informed, you don't get lured into personal genomics for all the wrong reasons. You don't order an expensive 23andMe spit kit as if it's snake oil. You don't send your vial of saliva to California, along with 300 of your precious bucks, because you think it will help you to live a longer, healthier life, or because you think it will show you your future.  Spit kits are not crystal balls, are not medicine, are not cures. Plus, the results will also most certainly change! Not your genotypes, but how they're interpreted. That genomes must even be "interpreted" should be a flag shouldn't it?

Informed citizens and consumers don't buy into personal genomics thinking it's their one and only answer-- their key to "me"-- because "me" will be increasingly different the more we learn about genetics and the links between genotypes and phenotypes. "Me" is, for most, too stubborn and conservative, while at once too big and too free, to be dictated by genotypes and probabilistic phenotypes.

All that is guaranteed with a 23andMe spit kit is that you will see parts of yourself that you haven't seen before. There's not a whole lot on the planet that's cooler than that. For most of us who will never go to Mars, at least we've got this, at least we've got innerspace.

Even if you don't get an ounce of joy from the experience, when you're informed you don't fall uncritically for claims that spit kits are dangerous or venomous.

Considering the engaging educational opportunites provided by personal genomics, considering its power to inform, spit kits may just be much-needed anti-venom.

In my experience education diminishes fear about genetic determinism because it diminishes genetic determinism. That leads me to see fear of personal genomics as a symptom of ignorance. And that's something worth being afraid of.

**

Note: Ken, Anne and I have differing views on direct-to-consumer (DTC) personal genomics like 23andMe so please remember that I speak only for myself when I write. Also, I am not paid  or sponsored by 23andMe to endorse their product. I use their product, at the educational rate, to teach anthropology at the University of Rhode Island.

Show time!

This past weekend we were in Cambridge, MA, at a meeting of the advisory committee for Henry Louis Gates, Jr's next PBS series on ancestry. (A showman if there ever was one, he convened each session yelling, "Show time!")  The committee includes major players in genetics, historians of the slave trade, and social scientists interested in race and ancestry. Gates himself spoke some about how much his understanding of genetics has changed since his first series, but the field, too, has changed. Much more is understood now about the nuances of ancestry testing, and how it's done.

In particular, even after just a few generations since slavery, the mixing of slaves and Europeans in North America has been such that each African American has ancestral DNA segments from populations (as represented in today's samples) from all over Africa, especially west and central Africa. They don't just have an ancestral home in one tribe or village, as has been suggested in earlier TV programs. This is something that qualified population geneticists certainly already knew, and it has to be said that the cinematic liberty of 'finding my tribe' was a disservice to education about science.

But we were particularly interested in the genetics presentations. George Church, a developer of 'next generation sequencing', the very high throughput, fast, and increasingly inexpensive means of whole genome sequencing, and now also leading the 100,000 Genome project, spoke about why he believes whole genome sequencing is important for disease prediction. The cost of sequencing continues to plummet, and he, and others at the meeting, believe that given the cost, there's no reason we shouldn't all know our personal genome within years, not decades. Gates himself and his father were both sequenced for Gates' upcoming television series, and their ancestry and disease risk (although given that Henry Louis Gates Sr is 96 1/2, they use him as a 'control', rather than to seriously consider his risk of disease) were reported at the meeting, and will be discussed on the show.

This raises many ethical issues of abuse of such data. But George believes we should stop pretending that there can be complete confidentiality of such data, or that there may not be abuses. He says that since we can't stop that formally, we'll need to use societal mechanisms--laws, shame, etc. But meanwhile, let's get the data out there for anyone to analyze, Wikipedia-like, and that way anyone with new ideas can get them expressed.

It was interesting to be in the same room with multiple people who actually have their genome on a disk, something that was pure sci-fi fantasy just a few years ago. We had dinner, e.g., with PGP4 (the fourth person sequenced in Church's Personal Genome Project). He has blogged about, and is now writing a book about the experience. One requirement of all participants in the project is that they allow all their data, including medical records, to be in the public domain. Church also goes beyond informed consent; participants must get 100% on a genetics test, showing that they understand what their sequence will tell them, as well as any risks -- which Church says are unknown, and can't be guaranteed against.

Twelve of the anticipated 100,000 PGP volunteers have now been sequenced. That leaves a lot to go, but there are at least 15,000 volunteers, including people at the meeting, currently undergoing the screening process, so they expect, once the project has more money in hand, that the pace will pick up.  You, too, can sign up.

But not everyone is eager to be sequenced. David Altshuler, for example, a physician and diabetes researcher, with a pretty hefty history of gene searching under his belt, has no interest. He said, in his presentation, that it would be like healthy people getting whole body CT scans, or x-rays, a futile exercise. In large part, his objection is that it's nearly impossible to predict risk. Further, he has no interest in 'personalized genomic medicine'. He sees no point in tailoring drugs to individuals, the modern promise of genetics, and now of the NIH with Francis Collins at the head, and would much rather see drug companies designing drugs that would work for the masses. He knows, and agrees (and other presentations made the point) that there certainly is a growing list of high-risk genetic variants, and those can be worth routinely identifying (though he mentioned the fact that we don't really know how many of us are walking around with 'disease' genotypes but are perfectly healthy--and it's likely often to be a high percent of unaffected carriers).

In the debate about GWAS and personalized medicine, David's talk was one of the most restrained, responsible, and reasoned presentations we've heard in a long time. He presented reasons why we cannot expect too much (things we've blogged and written about frequently), and he gave a clinician's point of view.

There may be an emerging consensus: there are lots of genes with some allele or other that confers meaningful risk. Thousands of rare diseases may be due in large part to such alleles. But most cases of complex diseases are likely to remain that way--complex at the individual level--and the challenge is to find ways to attack these in a general way.

As to ancestry, there's still a big gulf between the perspective of social scientists, who largely still do not quite grasp the genetic messages, and the geneticists who still do not grasp the issues the social scientists are concerned about. Gates' television series help to promote enthusiasm for searching for identity through ancestry, and interest in genetics in this context. Hopefully, this can also have beneficial effects on society that involve genetics in responsible ways that the social scientists in this area can be enthusiastic about.