Biopunks, biohackers, and the movement to own your own DNA

On DNA Day, 23 and Me had a sale on their personal genomics service. They'd do their standard scan of your genome for free, as long as you paid for a year's worth of their online subscription service.

A much smaller version of that same genome survey would have cost you a thousand dollars or more only a couple of years ago. For your money, you get data on single nucleotide polymorphisms at about a million spots in your chromosomal and mitochondrial DNA: mutations that can tell you about your ancestors' migrations across the globe, about your propensity for certain diseases, and about various behaviors and traits, from eye color or hair color and on to the ability to detect the odd odor some people's urine emits after they eat asparagus.

For the price (nearly free up front, and a modest cost for the online community provided), my wife and I jumped on the deal. Since I got the results back two weeks ago, I've been exploring not only the services and information provided by 23 and Me, but the various other tools that individuals have started producing to help analyze and investigate this insight into my ubiquitous but invisible DNA.

In years to come, the ability to learn about our personal genetic information, and other personal molecular biology, will only increase. The cost of sequencing DNA keeps dropping, and the level of detail possible through microarrays like those used by services like 23andMe keeps growing. At the same time, the amount of information available about the effects of individual genes and individual gene mutations is rising rapidly. The possibilities are tremendous, but this is not without its risks.
My genome, for instance, revealed a genetic predisposition towards late-onset Alzheimers. The odds of getting Alzheimers are still quite small, but elevated because of this particular mutation to the APOE4 gene. This wasn't a total surprise, given my family history, and as a healthy, young guy with a background in biology and biostatistics, it wasn't hard for me to put that information into a context and move on. Down the road, I'll probably keep an eye out for new research on Alzheimers medicines and look into tools for early detection, but I'm not going to kill myself if I forget my keys. (Thanks to the federal Genetic Information Nondiscrimination Act and the Affordable Care Act's prohibition on "pre-existing conditions" - not to mention the inherent uncertainties in translating this genetic result to a specific outcome - I'm not especially worried about discussing that result in public).

But I can see how someone with a different background, different family history, different training, or different genetic risks, might find these results scary. A 30 year-old woman with certain mutations related to breast cancer could be advised to undergo prophylactic double mastectomies, a decidedly fraught decision. Because of that tension, the FDA and Congress (as well as state regulators in New York and California) have held hearings into the practices of direct-to-consumer (DTC) genetic testing services like 23andMe, questioning whether the tests should be treated as medical devices, whether results should have to be passed to consumers through a doctor or a trained genetic counselor, thus increasing the cost and making the services inaccessible to folks with low income or without health insurance. Critics note that most doctors haven't got the background to say anything informative about the results.

They also raise a more fundamental objection, one at the heart of Marcus Wohlsen's fascinating new book Biopunk: DIY Scientists Hack the Software of Life. They argue that our DNA is as much a part of ourselves as our hair color or height, and that we have as much a right to access and explore that genetic information as we have to find out about our hair and skin and eyes and teeth. DNA is not destiny, but it is certainly a key part of who we are, and we shouldn't have to rely on intermediaries to be able to interpret the results.

Wohlsen chronicles the nascent movement of folks taking this a step further, not just using the increasing ubiquity of genetic information to learn about themselves, but using the increasing ubiquity of molecular biology equipment and information to turn biotechnology and molecular biology research into a sort of hobby. Some - like the folks at OpenPCR who I met at Maker Faire last weekend - are working to make the equipment needed cheaper and easier to build on your own and to reconfigure and tweak for your own needs. Others are using results from genetic tests as a basis for research into their own biology, with one person conducting a small clinical trial among people with a shared mutation, to help him find out which vitamin supplements would be most readily absorbed into his body (give his particular genetics), to help him avert a disease his genetic screening revealed he was likely to experience. Another biopunk converted her apartment closet into a biotech lab so that she could create a simple, cheap genetic test for hemochromatosis, a difficult-to-diagnose genetic disease which affected her father, but which her insurance company wouldn't pay to test her for.

Most of the biopunks Wohlsen introduces us to aren't trying to cure diseases or create genetic tests. They surely wouldn't mind if they changed the world somehow, but their interest in DIY biology is driven more by a sense of personal exploration and a pure fascination with how things work. The goal, one of these biopunks explains, is to "increase the tinkerability" of biology, "simplifying and domesticating" it to make it accessible to anyone who wants to play with it. Groups like the Bay area's Biocurious aim to create communal molecular biology labs which anyone can join and tinker in; Biocurious will open its lab this summer in Mountain View, not far from Google and the researchers at NASA's Ames facility.

Wohlsen, an AP reporter who covers the Bay Area biotech industry, does a brilliant job bringing us inside this movement, and exploring the hopes and enthusiasm of its advocates. He acknowledges the concerns that exist, but nicely defuses concerns that DIYbio could simplify bioterrorism. A terrorist could accomplish all they might wish without any of the new technology coming out, and the supply companies which will sell you custom stretches of DNA and other essential tools of molecular biology are, by Wohlsen's account, smart and ethical enough to screen out dangerous gene sequences.

I'm fascinated by this movement for various reasons. Partly because I know that this is the future, and it's awe-inspiring to see this unfold, to see molecular biology join insect collecting, bird-watching, and astronomy among the sciences people bring home as hobbies. There's tremendous power there, and tremendous opportunity, and I wish I'd paid more attention to molecular biology in school so I could take part.

But I'm also fascinated because this is the future even for people whose aversion to biochemistry is even greater than my own. Just as everyone in the mid- to late 20th century needed some grasp of physics to be able to think sensibly about nuclear energy, nuclear war, and a host of related issues, the 21st century is sure to be dominated by biology. And DIYbio can play a key role in democratizing science, precisely because it's more focused on what's neat than on what's likely to turn up a new Nobel Prize or a new patent and venture funding for a biotech startup. Its openness will be a great strength as a tool for improving science literacy, and biopunks know it.

Wohlsen quotes from Meredith Patterson's Biopunk Manifesto:

Scientific literacy is necessary for a functioning society in the modern age. Scientific literacy is not science education. A person educated in science can understand science; a scientifically literate person can do science....

Scientific literacy empowers everyone who possesses it to active contributors to their own health care, the quality of their food, water, and air, their very interactions with their own bodies and the complex world around them.

This is a point I constantly return to in my own work on evolution education. Within the lifetime of a student in high school today, the cost of genome sequencing will surely drop low enough that a genome sequence will be a standard part of everyone's medical chart. To understand that wealth of information, doctors and patients will need to be able to understand the common ancestry of life, and the evolutionary forces driving the differences in genes and their effects between humans and model organisms like mice and flies and roundworms. Increasingly, doctors without that context will be worse doctors, and patients without that context will be worse patients: less involved in their own care, and less able to understand the advice their doctors will be giving them. They'll be less able to understand new discoveries when they are reported in mass media. They'll be cut off from an essential part of themselves.

It's clear that Wohlsen, like me and the opponents of FDA regulation of DTC genetic testing, agrees with the idea that this information is and must be our own, to play with and interpret as we see fit. Biopunks, with their commitment to the idea that "knowledge set free will empower everyone," are trying to change society and prepare it for the potential of the revolutions happening in biology today.

Wohlsen summarizes:

Do-it-yourself biotech strives to bring biotech out of these closed-off [academic and industrial lab] spaces and give it to the public. Whether the public actually wants to have it is another question. Do-it-yourself biologists believe they should want it, if only because they have a right to it. Here, DIYers say. This is yours. Because DNA is us.

...

Biopunks have not achieved any major scientific breakthroughs. Maybe they never will. But they all exhibit a goofy joy in what they do, like they're getting away with something. Because rather than wait for science to be done to them, they have decided to do science.

That's a vision I agree with, and a movement I want to be part of. Most of my reason for getting my own genetic analysis was precisely so I could explore these same ideas, and so I could have first-hand experience that could inform my opinion on policy decisions being made today which will affect the future of this fascinating movement. Whether or not you decide to look under the hood at your own DNA, I'd encourage you to read Wohlsen's book and think about the issues it raises.