GeneWatch Vol. 22 No. 6 by Council for Responsible Genetics

VOLUME 22 NUMBER 6 NOVEMBER-DECEMBER 2009

THE MAGAZINE OF THE COUNCIL FOR RESPONSIBLE GENETICS • ADVANCING THE PUBLIC INTEREST IN BIOTECHNOLOGY SINCE 1983

IN THIS ISSUE • Art, literature and genetic policy LORI ANDREWS 4 • The Science and ethics of Jurassic Park ROB DESALLE 6 • The gene in journalistic metahors JON TURNEY 8 • Genomics in sci-fi and myth WITH PRISCILLA WALD 11 • The myth of genetic improvement BARRY STARR 14 • Becoming our tools, embodying technology ELAINE GRAHAM 16 • Book review: Homegrown ANDREW THIBEDEAU 19 • Fighting genetic discrimination in Canada JO ANNE WATTON 21 • Director of the Human Genome Research Institute WITH ERIC GREEN 24

GENEWATCH NOVEMBER-DECEMBER 2009 VOLUME 22 NUMBER 6 & DESIGNER Sam Anderson

EDITOR

EDITORIAL COMMITTEE

Ruth Hubbard

Sheldon Krimsky

GENEWATCH is published by the Council for Responsible Genetics (CRG), a national, nonprofit, tax-exempt organization. Founded in 1983, CRG’s mission is to foster public debate on the social, ethical, and environmental implications of new genetic technologies. The views expressed herein do not necessarily represent the views of the staff or the CRG Board of Directors.

ADDRESS 5 Upland Road, Suite 3 Cambridge, MA 02140 PHONE 617.868.0870 FAX 617.491.5344 NET www.councilforresponsiblegenetics.org BOARD OF DIRECTORS SHELDON KRIMSKY, PhD, Board Chair Tufts University TANIA SIMONCELLI, Vice Chair Science Advisor,ACLU PETER SHORETT, MPP Treasurer EVAN BALABAN, PhD McGill University PAUL BILLINGS, MD, PhD, University of California, Berkeley SUJATHA BYRAVAN, PhD ANDREW IMPARATO, JD President and CEO, American Association of People with Disabilities RAYNA RAPP, PhD New York University LOLA VOLLEN, MD, MPH University of California, Berkeley PATRICIA WILLIAMS, JD Columbia University STAFF Jeremy Gruber, President and Executive Director Sheila Sinclair, Manager of Operations Sam Anderson, Editor of GeneWatch Kathleen Sloan, Program Coordinator

Editorial

Sam Anderson

When you looked at the cover of this issue, you probably missed one of the most important parts. This is completely understandable. You may have been distracted by the mad scientist's wild hair, the Frankencorn monster reflected in his goggles, or his "It's alive!" expression. If you're a loyal reader, you may have been taking stock of the slightly untraditional layout. With all this going on, you can't be blamed for missing one word, in small and squiggly print, right in the middle: "and." This issue could have easily been titled "Genetics in Popular Culture." I have accidentally swapped "in" for "and" a few times when referring to this issue, and it made me think a moment about which one would make more sense. The problem with "Genetics in Popular Culture" is that it excludes its inverse, which is also addressed by the contributors to this issue: "Popular Culture in Genetics." We can all think of ways that genetic science (or a rough interpretation of it) has been portrayed in popular culture. We've seen it as plot elements in sci-fi movies and books, translated for the layperson in the news or documentaries, or packaged as a consumer product by direct-to-consumer genetic testing companies. We may find it more difficult, however, to think of ways that these representations of genetics or genomics have in turn impacted the science itself – but they have. The way genetic science and technologies are presented in popular culture informs our attitudes towards them and the importance society – including policymakers and scientists themselves – places on certain research or technologies. As Priscilla Wald points out [on page 11]: "Scientists read newspapers and popular fiction too." The main part of this issue focuses on that two-way street between genetics and popular culture, from a contribution by Lori Andrews – herself an author of smart sci-fi thrillers – to Andrew Thibedeau's review of a rather more poorly conceived attempt at that genre. Outside of the central theme, the issue also includes an interview with Dr. Eric Green, circa a few days before he took over (in December) as the new head of the National Human Genome Research Institute at the National Institutes of Health. But all that serious business aside, it was our goal to make this issue a fun one for both reader and contributor. So if you’re finding a discussion of the implications of the word “and” less interesting than the crazy-haired mad scientist on the cover, we can hardly blame you.

About the cover

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Sarah Kim is a recent graduate of Massachusetts College of Art and Design who enjoys working on any and all kinds of illustration. You can see more of her work at www.skimilkart.com. NOVEMBER - DECEMBER 2009

Contents How Art and Literature Can 4 Contribute to Genetic Policy LORI ANDREWS Dinosaurs in Central Park 6 ROB DESALLE

Metaphors for ‘the gene’ abound in journalism (p. 8)

Interview With the Gene 8 JON TURNEY The science of Jurassic Park and other lessons (p. 6)

Interview: Dr. Priscilla Wald 11 Myth, Mendel and the Movies

The Myth of Genetic 14 Improvement BARRY STARR Liberation or Enslavement? 16 ELAINE GRAHAM Can you select for greatness? ‘Rosy’ genes complicate the matter (p. 14)

Book Review: Homegrown 19 BY ANDREW THIBEDEAU Fighting Genetic Discrimination 21 in Canada JO ANNE WATTON Topic: DNA Databanks 23 The Real-life Characters of Cloning 23

Interview: Dr. Eric Green 24 The new head of the National Human Genome Research Institute Endnotes

GeneWatch interviews the head of the National Human Genome Research Institute (p. 24)

25 Years of GeneWatch GeneWatch Anniversary Archive: 1983-2008 The Council for Responsible Genetics was founded in 1983 to provide commentary and public interest perspectives on social and ecological developments of biotechnology and medical genetics. For a quarter of a century, the Council has continued to publish its magazine GeneWatch with articles by leading scientists, activists, science writers, and public health advocates. The collection of GeneWatch articles provides a unique historical lens into the modern history, contested science, ethics and politics of genetic technologies. The full archive of GeneWatch has been incorporated into this special anniversary DVD that includes an index of all the authors and titles. Copies of the anniversary DVD are available for a $100 donation to: Anniversary CRG DVD Council for Responsible Genetics 5 Upland Rd., Suite 3 Cambridge, MA 02140 VOLUME 22 NUMBER 6

GENEWATCH 3

How Art and Literature Can Contribute to Genetic Policy Expanding the conversation about genetic policy BY LORI ANDREWS

A few years ago, a boutique opened in a trendy shopping area in Pasadena, California. The store, Gene Genies Worldwide, said it offered “the key to the biotech revolution’s ultimate consumer playground.” Its products were new genetic traits for people who wanted to modify their personalities and other characteristics. The store was filled with the vestiges of biotechnology-petri dishes and a ten-foot model of the ladderlike structure of DNA. Brochures highlighted traits that studies had purportedly shown to be genetic: creativity, conformity, extroversion, introversion, novelty-seeking, addiction, criminality, and dozens more. Shoppers initially requested one particular trait they wanted to change in themselves or their children, but once they got into it, their shopping lists grew. Since Gene Genies offered people not only human genes, but ones from animals and plants, one man surprised everyone by asking for the survivability of a cockroach. The co-owners, Tran T. KimTrang and Karl Mihail, were thrilled at the success of their endeavor, particularly since none of the products they were advertising were actually yet available. Despite their lab coats, they were not scientists, but artists attempting to make a point, striving to serve as our moral conscience. “We’re generating the future now in our art and giving people the chance to make decisions before the services actually become available,” said Mihail. At the time I met Kim-Trang and Mikhail, I was chairing the ELSI 4 GENEWATCH

advisory committee to the Human Genome Project. The HGP was providing grants totaling 3-5% of its budget to economists, philosophers, anthropologists, law professors, sociologist, physicians, molecular biologists and others to anticipate the social issues that would arise with genetics. But for decades, artists, novelists, and poets had already begun exploring these issues in greater depth than any short-term ELSI grant could allow. Beyond assessing the complex and often surprising impact of genetic technologies, novels and art works can provoke discussion. When people read about a genetic development in Science or even The New York Times, they are often reluctant to challenge what they read. They think their lack of a Ph.D. in molecular biology makes their comments irrelevant. In contrast, people feel comfortable addressing the same issues when they are presented in a novel or a work of art. Artist Bradley Rubinstein creates digital photos showing children whose eyes have been digitally replaced with dog eyes, giving people a starting point for an intensive discussion of the morality and advisability of genetic enhancement. Nancy Kress’ novel, Beggars in Spain, allows people to understand the social context in which genetic enhancement would occur. Kress anticipates what society would look like if some children were genetically engineered not to need sleep. Unlike a university press release or biotech company annual report extolling the virtues of such a development, her book analyzes what

might happen, given human emotions, social stratification, and the economics of access to technologies. As might be predicted, the “enhanced” children in the novel learn much faster and ultimately attain better jobs, making other people jealous of them. “Normal” people begin to sell items from factories with the We Sleep logo, even when the products are shoddier than those the genetically-engineered people create. (Shades of “Buy American.”) But the people who don’t sleep are also jealous of those who do-and take drugs to have the chance to dream. The arts not only transform us individually, but they also transform us socially. Literature, paintings, photographs, and poems have documented social injustices and challenged and sometimes changed the social structure. Following Dorothea Lange’s publication of one of her photos, “Migrant Mother,” in the San Francisco News, the U.S. government allocated $200,000 to establish a migrant camp for homeless workers. Upton Sinclair’s novel The Jungle provided a disturbing indictment of the meat-packing industry, leading to the passage of both the Pure Food & Drug Act and the Meat NOVEMBER - DECEMBER 2009

Inspection Act. In my own work, I've begun to explore how to weave popular culture into public policy debates. As a midterm project in my classes on genetics policy at Princeton and at Chicago-Kent College of Law, I’ve asked students to read a science fiction book of their choice dealing with genetics. Their assignment was to analyze how close we were to using the technology at issue in the book; to assess the impacts of the technology on individuals, families, society, and the legal system; and to determine whether the problems raised in the book could be handled by existing laws or whether new laws were needed. The students were surprised at how quickly science fiction had become science fact (or at least science hype) with one or more actual doctors or companies doing research on or offering the technology that had been described in each science fiction book. And the students found creative ways to use existing laws to handle some of the problems, which we then applied in actual pro bono legal cases. Since novels seemed to provide a way to stimulate discussion of genetics issues, four years ago I VOLUME 22 NUMBER 6

began writing a series of mysteries with a geneticist main character, Dr. Alexandra Blake. I chose to write about issues that are here and now, rather than writing science fiction. In the first novel, Sequence (2006), I addressed issues of genetic privacy. A Navy lieutenant is asked to provide DNA when a murder occurs in a naval base library. He refuses, even though he is innocent, because he is gay and is concerned that the Navy might test his DNA for the alleged “gay gene.” In Sequence (2006), I also wrote about a government official who tried to personally profit by selling to a biotech company the tissue samples that were part of the Armed Services DNA bank. After the book was published, the U.S. Congress began investigating a government official who had personally profited from providing tissue samples to a pharmaceutical company. Those samples had been collected by other researchers who had convinced Alzheimer's patients and healthy volunteers to provide tissue samples, including spinal fluid collected through a spinal tap so that they might find biological markers associated with Alzheimer's and develop a cure. When one of the other researchers went to the freezer to get the samples for research, Dr. Trey Sunderland, the chief of NIMH's Geriatric Psychiatry Branch, told her that the samples had been destroyed when a freezer malfunctioned. In actuality, Dr. Sunderland had provided the pharmaceutical company Pfizer with over 3000 tissue samples and associated clinical data. Pfizer paid Dr. Sunderland about $285,000 for supposed consulting fees and approximately $311,000 for lectures and travel expenses. He was ultimately indicted and pled guilty. In my latest mystery, IMMUNITY (2008), I point out problems with the regulation of human research, but I also take on some of the concerns

with criminal DNA databases. One of the suspects in the book is Native American, but traditional forensic databases do not contain a wide enough selection of Native Americans in the population database to indicate whether a certain allele is rare or common. The fact that a suspect's DNA matches at 9 or 13 loci doesn't mean much if many other Native Americans have that exact same genetic profile at those alleles. My intention in writing mysteries was to smuggle in a few policy issues within a traditional thriller. But I hadn't anticipated that my fiction would inform my legal work. Some of my legal projects were inspired by research I undertook for the novels-on the problems of regulating research on monoclonal antibodies and the potential use of mandatory quarantine for a pandemic. Exploring genetics in fiction has also given me a new view on the ethical issues I routinely handle in my legal work. In Sequence, the protagonist surreptitiously tests her boyfriend's DNA to see if he's the killer. I'd fight against that in real life, but writing her character made me see how easily a person could be pulled into a seemingly unethical action. Fiction and art can help expand the discussion of genetic policy issues to a larger audience. They can empower readers and viewers to discuss the pros and cons of genetic technologies. By portraying the larger social context in which technologies are adopted and addressing who loses and who benefits, they can also help chart the appropriate regulation of genetics.

Lori Andrews is a mystery writer and professor of law, Chicago-Kent College of Law.

GENEWATCH 5

Dinosaurs in Central Park The Science of Jurassic Park, ten years later

BY ROB DESALLE

Upon the release of the recent blockbuster movie 2012, my colleague at the American Museum of Natural History, Neil deGrasse Tyson, sent out to all of the curators at the museum a list of talking points concerning the lack of “reality” of the premise of the movie. Neil is an astrophysicist with a great reputation as a communicator of science, as demonstrated in his many appearances on PBS, but I was immediately puzzled by the need for Neil’s pre-emptive strike against a silly movie about the geological and astrophysical demise of our planet. Then I remembered a similar situation I found myself in a decade or so ago, when the second Jurassic Park movie was in production and near release. Our genomics labs at the AMNH, about three years earlier, made the claim to have successfully extracted a small piece of DNA from a termite embedded and preserved in amber. Not having read the book or seen the original movie, I wondered: what connection, if any, might this work have to Jurassic Park? As it turned out, everything! The premise of Jurassic Park (if you happen to have been in a coma for the last 15 years), comes from author 6 GENEWATCH

Michael Crichton's mastery of suspending disbelief. The story was about the reanimation of dinosaurs from DNA isolated from amber preserved insects that had bitten and fed on dinosaurs. All of a sudden, I found myself inundated with phone calls from reporters of all kinds asking about the feasibility of the premise of the book. While we had reported the isolation of DNA from a long deceased organism, we had not gotten anywhere near the fulfillment of the premise from Crichton's pen, made equally vivid by the movies based on the books through Steven Spielberg's cinematic flair. As responsible scientists, we patiently explained to the media that we wouldn't be seeing dinosaurs prancing around Central Park anytime soon. However, the questioning by the media became so intense and anticipatory of a positive answer, that I was often times openly frustrated. One reporter was so persistent with the hopes that it could be accomplished that it prompted me to finally respond to the reporter: “Yes Jurassic Park could happen … and monkeys could also fly out of my butt.” (To explain: back at that time, this was a phrase made popular by

Michael Meyers of Wayne's World and Saturday Night Live.) This comment did not endear me to the Public Relations Department at the AMNH. While dealing with the press was frustrating, we also realized that this interest in the book and movie was a golden opportunity to teach. Often times it is impossible to get the public even remotely interested in what we do as scientists and here was a situation where the intense interest in the potential science actually became annoying. And so, in anticipation of the release of the second Jurassic Park movie in 1997, David Lindley and I wrote a book titled The Science of Jurassic Park and the Lost World. As publishers are wont to do, a subtitle was added to the book: “Or How to Make a Dinosaur.” They added this subtitle because my co-author and I were clear throughout the book that neither dinosaurs nor any organism would be reconstructed in the near future from its naked DNA and the publisher felt that the negative response on our part would hurt the sales of the book. In the book, we focused mostly on the scientific issues raised by the premise of Jurassic Park. For instance, the amber we had worked on at the AMNH in 1993 was from Miocene deposits in the Dominican Republic. Any self respecting geologist would recognize right away that this deposit is only 30 to 35 million years old, meaning that the amber we had worked with was way to young to yield dinosaur DNA because dinosaurs had all gone extinct 65 million years ago. Ironically, the scenes from the Jurassic Park movie where the amber fossils are discovered are also from the Dominican Republic and also incapable of having any dinosaur DNA in them (unless, of course, one considers birds dinosaurs, which actually one should). Right after we published the book, reports started to come out of other labs of older and older DNA fragments being isolated from older amber. Counter to that, reports came NOVEMBER - DECEMBER 2009

out of the British Museum of Natural History that claimed all of the previous studies on amber were faulty and not valid. This latter work prompted most labs to stop working with samples from amber, and to hold to the idea that DNA older than 30,000 years could not be retrieved from fossilized tissues, whether it be in rocks or amber. Ancient DNA studies instead focused on subfossil remains (remains not mineralized or amber preserved) less than 10,000 years old. To date, the oldest subfossil to yield DNA is between 100,000 and 30,000 years. Whether amber preserved fossils will yield up DNA is still debatable, but scientists as a matter of practice have focused on much younger samples. Our second talking point to debunk the Jurassic Park premise usually rested on the general inability, when working with “ancient” tissues, to obtain enough high quality DNA to reconstruct a genome. And if it were possible to obtain even enough small fragments, it would be computationally impossible to reconstruct, or “assemble” as the genomicists put it, an entire genome. Here, I have to admit, we were wrong. Our suggestion was made well before the announcement of the first draft of the human genome, let alone several recent publications using “next generation” sequencing methods. Our book was finished in 1996, and coincided with Craig Venter's suggestion that shotgun sequencing and assembly of small fragments was the way to go when sequencing a genome. More recently, the 454 and Solexa “next gen” approaches have revolutionized genome level sequencing. It is now possible to assemble genomes from relatively small fragments of DNA, especially if another closely related species is available as a scaffold upon which to do the assembly. The announcements coming from the Max Planck Institute concerning the sequencing of the Neanderthal genome and the announcement of the sequencing of both Venter's and James Watson's genomes are eviVOLUME 22 NUMBER 6

dence of the power of these “next gen” sequencing techniques. The third talking point was that even if we did get a whole genome, the insertion of this genome into an egg to get a developing embryo was impossible. We also questioned the ability to produce cross species embryos using a surrogate species to provide the egg for development. We were partially wrong on this claim too, as several cross species cloning and surrogacy examples exist. In fact the book was published just after Ian Wilmut and colleagues announced the birth of Dolly, a sheep cloned from somatic tissues. Perhaps the most prominent of the advances in this area after Dolly concerns the birth of Noah, a baby Gaur.

“One reporter was so persistent ... it prompted me to finally respond: ‘Yes Jurassic Park could happen … and monkeys could also fly out of my butt.’” Gaurs are extinct in nature and Noah was born from the application of Nuclear Transplantation experiments using frozen, stored Gaur tissue and a cow as a surrogate mother. Noah died soon after his birth, but is still regarded a success story in this area of research. Even though success stories exist for this area of research, I would still suggest we are far from being able to inject “naked DNA” into a surrogate egg and have significant development occur. The fourth argument we would use is that there would be nowhere to keep the beasts. We called this the ecological catastrophe problem and used Barbados, an island big enough to have substantial enough vegetation to support the number of dinosaurs mentioned in Jurassic

Park, as an example of what might happen. We predicted that a severe ecological collapse would occur even on an island as big as Barbados, and that this might be the most important scientific point to consider in the entire scenario. Crichton and Spielberg did away with the ecological catastrophe problem by having Ian Malcom, the mathematician of the story (played wonderfully by Jeff Goldblum), babble about chaos theory. This problem is bigger than just chaos theory though, as how we treat our environment is immensely important. An entire discipline in science has emerged around the pertinent subject of conservation biology. One of the most important subjects that conservation biologists concern themselves with is what they call “naturalness”. Naturalness refers to the state of the environment that would be there without the overt human activity we have seen in the past two centuries (or perhaps, before Columbus came to the New World, or perhaps even prehuman civilization). Reintroduction in the real world is an attempt to recreate naturalness in one of these contexts. It seemed strange to us to even attempt to recreate naturalness as it existed in the Cretaceous. Why not instead worry about the species we have driven to extinction while humans have been the predominant organisms on the planet - not necessarily in reanimating them, but making sure other species don't suffer the same fate. We suggested that the billions of dollars that might be spent to create a Jurassic Park would be better used buying land for conservation preserves. Our final talking point was always an ethical one. We pointed out that just because a technology is there, it doesn't necessarily mean it should be used. The fallacy of the “progress marches on” attitude was our main point. Scientists, we suggested, have a duty to consider the ethical ramifications of their work. If some new technology is developed and we go wild using it, we place everyone at a disadvantage. We can GENEWATCH 7

always say that scientists are good at self-policing these kinds of things, but the kinds of ethical questions that are arising from the modern technology have outpaced the knowledge and social experience of scientists. The impact is so extreme that, in my opinion, cogent ethical decisions can only be made by taking a broad ethical assessment approach involving experts from the many areas of science, philosophy, social science, economics and other disciplines. As scientists, we hope that our work has an enduring impact on science and society. The Science of Jurassic Park episode of my career actually has had a huge impact on how I view science and the world. I look at the opportunities created by the scientific silliness of a well crafted story like Jurassic Park as a great educational opportunity. When the public has an interest in something like dinosaurs and it opens up an opportunity to teach something, as scientists and educators we need to grab that bull by the horns and use it to the utmost. I also learned that the general public often gets swept away by what scientists do. They are sometimes dazzled by the technology so much that their imaginations run wild. In general, most of the lay public want to see “monkeys fly out of our butts,” but part of the job of being a scientist is to ensure that the public understands our science. Finally, I learned some hubris about science and society from thinking about the feasibility of Jurassic Park. All of the scientific arguments that Jurassic Park won't work pale in comparison to the ethical arguments. Not considering the ethics of our science before doing it is like putting a 65 million year old dinosaur in Central Park.

Rob DeSalle, PhD, is a curator in the American Museum of Natural History’s Division of Invertebrate Zoology and co-director of its molecular laboratories. 8 GENEWATCH

Interview With the Gene Genetic metaphors in journalism BY JON TURNEY An extract from the chapter “Genes, Genomes and What to Make of Them,” in Communicating Biological Sciences, Ashgate (2009).

Language, thought and metaphor are inextricably mixed, so any discussion of what might be good or bad, desirable or undesirable, about particular metaphors must proceed carefully. In genetics, this leads into a real tangle. There are powerful and indispensable theory constitutive metaphors which have shaped the history of molecular biology. There are a further set, often used alongside the first, in efforts at elucidation, explanation, translation or appropriation of new theories, concepts or ideas. And there are the framing metaphors common in science journalism, which may appear in conjunction with any or all of the above. Further complications arise because there is no clean separation between these types, though they may still be analytically useful. As in other areas, metaphors deployed for theory development carry other connotations - language is like that. Sometimes, the unintended effects this may have do not matter much outside the science concerned. The fact that ‘superstrings’, for example, sound like something which might be understandable - unlike most of contemporary physical theory in its mathematical aspects - may have given one candidate for unifying relativity and quantum mechanics a public relations advantage over others which are less easy to label so neatly. However irksome this fact has been for some theorists, its effects in the wider world seem modest. Biology-related metaphors are different, perhaps. Some aspects of biology, at least, can be more immedi-

ately consequential than theories about the foundations of physics. And the fact that biology is steeped in metaphor has attracted much critical attention, though in ways largely ignored by practitioners. This applies to evolution (including the core metaphor of natural “selection”), and immunology (with its wars, surveillance, and controls at the border) as well as genetics. Genetics, however, has probably generated the largest literature examining the metaphors in play. Beyond academia, popular authors are especially conscious of the role of metaphors in communication around genetics. Richard Dawkins, for example, has commented frequently on the appositeness, or otherwise, of genetic metaphors - while also, on occasion, denying that the particular usages he favours are metaphors. Author of widely read books each built around the metaphor in its title - ‘the selfish gene,’ ‘the blind watchmaker’ and ‘climbing mount improbable’ - he is acutely aware of the risks and benefits of metaphor use in the popularisation of science. As he wrote in the preface to the second edition of The Selfish Gene: “Expounding ideas that have hitherto appeared only in the technical literature is a difficult art. It requires insightful new twists of language and revealing metaphors. If you push novelty of languge and metaphor far enough, you can end up with a new way of seeing. And a new way of seeing, as I’ve just argued, can in its own right make an original contribution to science.”1 Robert Pollack has also reflected at book length on whether the metaphor of DNA as a text invites the equivalent of literary criticism, and Stephen Rose has often used metaphorical critique as part of his general opposition to reductionism, most notably in NOVEMBER - DECEMBER 2009

Lifelines.2 In my observation, all of this has had some effect on journalism. Journalists, who pay reasonably close attention to what is happening in the science of genetics, are also aware that ideas about genes, genomes and gene action are changing. This is part of the reason why some journalism about genetics has become more cautious. However, I would suggest that taking account of those changes within the confines of news writing presents interesting difficulties. The changing meaning of ‘gene’ Despite occasional calls, more in hope than expectation, to consider eschewing use of the term ‘gene’ altogether, as far as I know no one is really claiming that we are headed for a post-genetic biology.3 Still, the idea that a “post-genomic” biology is taking shape is certainly being widely discussed and the role of genes in this new era seems to be changing for biologists. One simplified version of the recent history of the gene runs as follows: the effort to map and sequence entire genomes has been a brilliant success, but, like many scientific successes, it has created a host of interesting new problems. In the case of the Human Genome Project there is a larger irony: the fruits of post-genomic biology are awaited by an expectant public, but their expectations and some of the attendant fears - may be based on a notion of genes and gene action which will not survive much longer in the new genomic world. Some of the impetus for changing the notion of the gene has come from scientists themselves. As Nerlich and colleagues note, Craig Venter - famous as one of the leading lights of the genome programme - has challenged the prevalent metaphors for the genome4, while Richard Dawkins has written similarly about the misleading implications of 'genes for'.5 And, as Nerlich also notes, such contributions have had little effect on the language of media reports VOLUME 22 NUMBER 6

about genome science.6 It is also becoming difficult to keep track of how biologists are conceptualising genes in the twenty-first century as new complexities of gene structure and regulation are unveiled. Yet more difficult is the task of communicating effectively about these new properties and configurations of genes to different publics. Unsurprisingly, after a century of the gene, these complexities have been slow to make an impression on the popular media. The old metaphors for genes and genomes, whether they originate in scientific discourse or in popularisation or the rhetoric of research promotion, are familiar. We read of the map, the code, the Book of Life, the blueprint,

the recipe, the master molecule, and we often get the message that DNA is destiny. Although it is rightly pointed out that such renderings of the gene are misleading,7 surveys indicate that they continue to dominate journalistic writing about genetic discoveries and their implications. Some have questioned how much this matters. Studies of readers suggest that they interpret the blueprint metaphor, for example, less deterministically than is often supposed.8 However, there does appear to be an emerging mismatch between the image of the gene in the public realm and recent scientific understanding. If it is desirable to have informed public debate about new genetics and its applications, it would be helpful to start work on GENEWATCH 9

improving the alignment of these images. Writing about genes and genomes Think about writing about a new finding in genetics from the point of view of a journalist, pushed for time and with limited space. Such constraints encourage pragmatism. What the journalist needs is not so much detailed appreciation of issues in history or philosophy of science, or even connoisseurship of the sciencerewarding as these may be to develop, and even useful in their way. Rather, he or she requires ways of framing, metaphors, figures and tropes - call them linguistic resources - which will help get the story written clearly and expeditiously. If the resources available are poor, one or two inspired individuals may, every now and then, be able to create new ones. Most of the time, however, the old ones will be raided for lack of an alternative. In the case of the post-genomic gene, the main problems arise from a requirement which is at the heart of science writing, and which has always been tricky to solve for genes. It is a problem of explanation. As with other scientific explanations, providing an account of gene action demands what Ogborn and colleagues in their breakdown of explanation call ‘creating entities’.9 That is, there needs to be a way of describing what genes are, what kind of thing, and what their capacities, properties and potentials might be. Furthermore, all this needs to relate to something which does what it does in a realm remote from everyday experience and action. As Ogborn et al. put it, “an explanation of the mechanism of heredity involves novel actions of novel entities… The story involves unfamiliar objects which do unfamiliar things in an inaccessible world.”10 These invisible entities do, we believe, have effects which are visible but there is an additional challenge in explaining how the various entities at different scales between genes and organisms - cells, tissues, organs

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and systems - interact. If the effects involve human behaviour, then mind and brain are implicated, too. In both these areas for explanation, the linguistic resources which derive directly from scientific research communities are a mixed blessing, and have been for some time. So, a journalist reading around the subject might ask, what else is there which might help convey the interactivity, fluidity, and dynamics of genomic systems? The domains that metaphors might be drawn from are limited. There are only so many different ways of thinking about a complex situation, so many things

“It is not hard to believe that a news story trying to explain the complexity underlying claims of genetic causation ... would simply collapse under the weight of its caveats.” which a living system might be like. Richard Dawkins suggests a metaphor for the complexity and interconnectedness of the genome (and the fallacy of specific 'genes for' this or that trait): Imagine a bedsheet hanging by rubber bands from 1,000 hooks in the ceiling. The rubber bands don't hang neatly but instead form an intricate tangle above the roughly horizontal sheet. The shape in which the sheet hangs represents the body including the brain, and therefore psychological dispositions to respond in particular ways to various cultural environments. The tensions up at the hooks represent the genes. The environment is represented by strings coming in from the side, tugging sideways on the rubber bands in various directions.

The point of the analogy is that, if you cut one rubber band from its hook - equivalent to changing ('mutating') one gene you don't change just one part of the sheet. You re-balance the tensions in the whole tangled mess of rubber bands, and therefore the shape of the whole sheet. 11 This is a finely wrought and memorable image, and it strikes one as a good analogy which can be visualised in a way which others cannot. It is, however, more suited to re-use in a book than a newspaper article. It is not hard to believe that a news story trying to explain the complexity underlying claims of genetic causation - and, for that matter, the complexity of simply defining a 'gene' nowadays -would simply lead to the writing collapsing under the weight of its caveats and acknowledgment of possible contrary instances to the central chain of cause and effect behind the story. Imagine, by the time you have written, ‘a gene, a variant form of which may, in certain circumstances, be associated with an enhanced risk of developing (condition X) - although it must be admitted that, just now, no-one is quite sure exactly what a gene is…’ you may well have lost your reader, even if your news editor defers to your scientific expertise, lets you compose the story, and can then bear to print it. Can this be overcome in a journalistic context if the writer has more time and space to work in? Up to a point. For an example of the longer, feature-style treatment, I choose a piece from the New York Times by biology specialist Carl Zimmer.12 The article, titled “Now: The Rest of the Genome,” covers many aspects of recent findings about gene structure and organization, and is replete with metaphors. However, none of them really applies directly to gene action. The reader learns that new studies mean that the gene ‘is in an identity crisis.’ The story of genes, DNA, RNA and protein has to be revised because many 'complications' have emerged, as scientists ‘wade

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into that genomic jungle’. In fact, the genome is ‘full of genes that are deeply weird’. Epigenetics, the chemical marking of DNA, means that 'heredity can flow through a second channel'. And the cluster of proteins which add methyl groups as markers at particular points on the DNA are led there by a specific RNA molecule which acts as a ‘guide’. Other passages refer to ‘genomic baggage’, 'dead' pseudogenes, (and some which are ‘undead’!), and even bits of the genome which are ‘the rotting carcasses’ of viruses, though as these can ‘jump around’ presumably they also number among the undead. All of this is leading to a paradigm shift in how genes and

genomes are conceived, or perhaps, in the words of one of the scientists quoted, an older kind of shift, crossing the Rubicon and pausing to look back and realise that the protein-centric view of gene coding is ‘quite primitive’. The piece is skillfully put together, covers a lot of ground in 3,000 words, and through all this metaphoric richness adds colour to a picture of biology in transition. Yet we are left with no clear impression of where this transition will lead. This may well be a fair reflection of the state of the science. But it sits alongside a continuing stream of news stories that link a gene or genes - however defined - with some medical or behav-

ioural trait of interest. The tension between these two media portrayals of genes may be sustainable for quite a while. In fact, it will probably persist until there are some convincing new off-the-shelf metaphors for what genes do and how they do it, which can be woven into a news story without a long list of caveats about how they really need further qualification or explanation. I wonder what they will be?

Jon Turney is an editor and science writer. His forthcoming book, The Rough Guide to the Future, is due out in 2010.

Interview

Dr. Priscilla Wald Myth, Mendel and the Movies

Priscilla Wald, PhD, is a Professor of English at Duke University. She is the author of Contagious: Cultures, Carriers, and the Outbreak Narrative and Constituting Americans: Cultural Anxiety and Narrative Form, as well as numerous articles concerning the intersections between science, medicine and literature. In your observations of the way sci ence is represented in popular cul ture, have you found any particular portrayals of genetics or genomics that were especially insightful - or dangerous? One film, actually, is Journey of Man. It was a film that seems to me I don't want to say dangerous, that's a little too strong, but the film was very misleading about what genetics can and can't tell. I think it was makVOLUME 22 NUMBER 6

ing an effort to respond to the critics of some of the work on the Human Genome Diversity Project, and it was preparatory to the Genographic Project. Spencer Wells, in the narration, suggests that it would be very easy to pin down somebody's ancestry, and the film does not get into the complexity and the implications. What I've written about is how the narrative of it reinforces racist narratives. I'm not calling anyone a racist, I want to be very clear about that - the film was very explicitly made to be anti-racist - but the logic of the narrative of the film really reproduces the idea that ‘civilization’ moved out of Africa and ‘progressed’ westward. And it’s a really disturbing film because I don't feel that whoever wrote it was fully in control of the narrative and the impetus of the film, so it takes on a life of its own, and I think does not

convey the message that they were hoping to convey. Yet I think people watching it wouldn't necessarily pick up the inaccuracies if they didn't know something about genetics. And that’s the problem, right - that the science can get lost in translation, even if not on purpose. That’s the real danger. I write in general on depictions of science in mainstream media and popular fiction and film, and consistently the nuances of science get lost and other kinds of stories take over. And I think that in turn affects the science in all kinds of ways. Scientists read newspapers and popular fiction too; and in applying for funding, certain projects are going to get funded because of the anxiety level that they represent, for instance. Something becomes the new soluGENEWATCH 11

tion: we’re going to find the gene for this or that - the gene that codes for schizophrenia, say - even if it’s way oversimplified. When policy decisions get made, how much do the policymakers or the funding agencies necessarily know about these things? So the way people feel about the topics has a huge impact that we can't even chronicle. But to answer your first question, the other film that I just taught that is very problematic is Gattaca. It's a fun film, but basically what it does visually and narratively - and I don't think this was in Andrew Niccol’s or anybody's mind - is consistently set up genetics and genomics against religion, against the family, against justice. The message of the film is ‘there is no gene for the human spirit.’ A lot of scientists really like it they see it as making the point that we shouldn't fall into genetic determinism, and that their research doesn’t mean that someone's character can be reduced to their genes. But the logic of the film is anything but, especially visually. Everything is associating genetics with sterility, with the idea of living in a laboratory, with things that are dehumanizing, and I think it does a real injustice to the science. And then people get it into their heads. At one point the film says, “Whatever possessed my mother to put her faith in God instead of the local geneticist?” And you see a crucifix as he's giving that voiceover narration. It’s telling us that there’s an opposition between genetics and religion, and those are the kinds of messages that I find really disturbing. So on the one hands there’s something like Journey of Man - which both of my children saw multiple times in middle school and high school - really perpetuating false information about what genomics can and can’t tell us about who we “we,” in quotation marks - are, and where we came from; and then there’s something like Gattaca setting up genomics as this sterile, anti-human kind of science. Those, 12 GENEWATCH

to me, are the two bookends, and equally dangerous. A film that I think is really interesting, actually, is X Men. You think of it as cartoonish, but it’s really about bias and human nature and the complexity of being gifted. It doesn't fall into the naïve categories of good guys and bad guys. It’s a very interesting film that explores what it means to be gifted. It seems that science fiction often actively undermines the romanticiz ing of science - are there exceptions

“Myths are stories about social groups and group identities; they give us purpose and give our lives a kind of poetry.” to this that I’m missing, any scientific utopias? I would say that X Men - or another interesting one, the TV show Heroes - are quite favorable in their depiction of science. Dr. Xavier is a brilliant scientist, and some of the main characters in Heroes are research scientists. They are very well intentioned and actually doing some very important work, presumably. As for utopias … I’ve read so much science fiction, but nothing is coming immediately to mind, and maybe it’s because I’m much more interested in perspectives that are about the complexity of something, not all bad or all good. If I see it going all in one direction I tend to go somewhere else. I would also say a novel that’s really interesting - certainly not utopian is Darwin’s Radio [by Greg Bear]. I think it’s one of the most brilliant explorations of what happens when a widely held scientific theory is

challenged. Another example - which is speculative fantasy, so it’s not really exploring the science directly but more the issues coming out of the science - is Octavia Butler’s Xenogenesis, or Lilith’s Brood trilogy. She's writing in the late 1980s and all of the things that are coming out of the Human Genome Project are things that she was exploring in really intricate and unresolved ways in that trilogy. For some people, science fiction needs to be truly engaging with the literal science; for me it’s often the speculative fiction that is actually most deeply engaged with the science, because it’s getting at the deep issues that are informing the research. Do you see any marked similarities or fundamental differences in the way that genomics is represented in mainstream media versus science fiction? I don’t draw a huge distinction there, but I'm also looking for scenarios in popular culture that are being plucked out of the news. The popular depictions that interest me have tended to be amplifiers of some of the deep issues being brought up in the media - a sort of magnifying glass that takes some concept and really extends it into an ongoing scenario that allows us to really tease out the implications that are implicit in the stories that are emerging from the media. You have been researching the idea of genomics as creation myth. Where do you see that happening? I’m writing a whole book on that, but I’ll try to give you a very quick version. As for the ‘where,’ the obvious place is the DNA ancestry testing going on. In Journey of Man, at one point, the book that Spencer Wells wrote from the script of the film - the film was first - he actually called it a creation myth or a creation story. At one point he says “we have our own creation stories too.” NOVEMBER - DECEMBER 2009

And I think that's a very astute point - I don’t know how he meant it, but he’s referring to Western scientists, and I think it’s exactly right. I don’t mean to be at all disparaging or dismissing when I use the term ‘myths.’ I think it is a mistake to associate myths with “primitive” culture. I think that everybody has myths, and I think myths are essential to our existence. Myths are stories about social groups and group identities; they give us purpose and give our lives a kind of poetry. They are also very hard to challenge, because we believe them on a very deep level, and they are kind of invisible. So when I call genomics a creation myth, I don't mean it to be dismissive - I’m certainly not antiscience or anything like that. At the same time, I think the science is getting incorporated into new origin stories that we are telling ourselves. We have new ways of thinking about our interconnectedness at the same moment that we have a kind of pushback from an effort to have a science that is telling us that we can trace our ancestry, and we can go back to seeing our differences as well as our similarities. So the surface message of people like Spencer Wells is that we’re all the same, we’re all mixed, there’s more genetic similarity within groups than between groups and so forth; but at the same time, the message of the research is about going back and separating these strands of where we come from. And my question is: why are we doing this at this time? I don’t mean that in a paranoid sense - I think there could be good reasons - but I think it's an important question to ask. Part of what I’m arguing in my book is that whenever there is a convergence of a real challenge to previously accepted definitions of human beings coming out of both science and social thought, you tend to get new creation stories. I see that happening in the 18th century with the VOLUME 22 NUMBER 6

idea of natural rights (the narrative that accompanies the “Rights of Man”); I see it happening in the Victorian period around Darwinian evolution; and I see it happening after World War II, at the dawning of genetic research - which is also, and I think this is not irrelevant, the moment at which science fiction comes into its own as a genre. I think science fiction, deeply and theoretically, is engaging exactly those issues: the changing definitions of human beings and their relation to creation stories and myths. You talk about myths being invisible in a way, and I can see how genomics can be invisible too - but at the same time, is it less of myth because genomics can claim this sci entific grounding? I think all myths do. Well, not all myths, obviously … but in early cultures, I don’t think there’s such a difference between myth and science. If you think of science as an effort to have a systematic observation of the world - myths are also an effort at explanation. Currently, we have a certain story about who we are and our origins which comes from Darwin, and that's based on scientific inquiry. But it still has a mythic dimension. Our myths are grounded in, we could say, a more sophisticated science than the myths of 2000 years ago but I think there's an analogy, and it would be arrogant for us not to think that if the world continues, our understanding of the world will be superseded by the understandings of others. Because we don’t know what the myth will be in a hundred years - we don’t know how silly ours might sound. Right, but none of them really sounds silly to me in the end; if I understand all of them to be about the poetics of collective identity, they become a lot more profound. So

I'm not taking them at face value. A world without myths would be a very dry world. Myths are beautiful; but they can blind us as much as they can illuminate and enlighten. That's true of any story, any ideology, any narrative or theory. Take something like Gay Related Immunodeficiency. That term, ‘GRID,’ made it easier for a doctor to identify the early signs of HIV in some people (specifically gay men). It also created terrible and destructive biases that both stigmatized populations in dreadful and counterproductive ways and blinded researchers to the full cause of HIV, which meant the blood supply went uninvestigated for way too long, and people who were not gay men were not suspected of having HIV. It illuminated certain areas and obscured others - and that's true of any theory, any definition. We have too much noise coming in; if we didn’t filter, we would see nothing. But we have to be very careful of how we filter. There are myths that are more dangerous than others, so what I advocate is just being attentive to the myths and figuring out which ones we want to keep going with and where we want to make changes.

GENEWATCH 15

The Myth of Genetic Improvement Selecting against ‘rosy’ genes is a double-edged sword

BY BARRY STARR Science fiction is filled with stories about improving people through genetic engineering or selection. And like a lot of science fiction, some of what they talk about is coming to pass right now. No one is going to be changing an embryo’s DNA anytime soon, like the Bene Tleilax of Dune. We just don’t have the tools or the know how to pull this off. For the foreseeable future, you're stuck with your DNA. But what scientists can do right now is screen embryos for desired traits, like in the movie Gattaca. I doubt very much though that there will be some government program designed to perfect the human race though screening. Instead it might become commonplace with parents wanting to help their kids succeed by making sure they had the best genes available. And in most cases, this will be the most foolish choice they can make in raising their child. Scientists are at a very early stage in understanding what effect different gene versions have on people in different situations. Except for those that lead to genetic diseases like Huntington's or cystic fibrosis, there probably are no “best” or “worst” genes. Many gene versions will be either good or bad depending on how and where a child is raised. This isn’t simply an academic discussion about something we might confront in the distant future. Genetic screening of embryos is something happening right now. As we get better and faster at reading DNA, parents will soon be able to have a complete readout of their child's DNA before that child is implanted in the womb. Parents need to be aware of the limitations of what we actually know about that readout before taking screening too far.

14 GENEWATCH

What Scientists Don’t Know Can Hurt Your Child Parents who undergo in vitro fertilization (IVF) have the option of using preimplantation genetic diagnosis (or PGD) to screen embryos for various genetic conditions. After the testing, only those embryos that have the desired genes are implanted. The other embryos are discarded (or frozen away and then discarded). In many cases this sounds more sinister than it actually is. For example, PGD probably makes sense in situations where both parents are carriers for devastating diseases like sickle cell anemia. The doctor would discard embryos that would develop sickle cell anemia so that the parents wouldn't have children with this

deadly disease. Even in this cut and dried situation there are possible problems. For example, should the doctor discard embryos that are carriers of the disease as well? There isn’t any health problem associated with being a carrier and there is the added benefit of being more resistant to malaria (a possible big deal on a warmed globe). But parents may want to protect their children from having to go through genetic screening when they are ready to be parents and so may opt for children who aren't carriers. The uncertainties become more pronounced as we start to think about more complicated diseases. Imagine that a mom has a history of depression in her family. And lots of people on dad's side of the family NOVEMBER - DECEMBER 2009

have type 2 diabetes. The parents want what is best for their child so they go through IVF and select embryos that don't have versions of genes that can lead to these two diseases. The children are born and grow into fine people. But we’ll never know what could have been. Like most everything in life, genes aren’t simply black and white. Many genes that turn up as bad in one study can turn up useful or beneficial in another. This is because genes are like plants-what they end up becoming depends on the environment where they are grown. If you plant a rose in the desert, you'll end up with a sickly plant. You might conclude that roses are not very pretty flowers and we shouldn’t plant them anymore. So instead you plant something hardy that looks OK. Not spectacular but pretty nonetheless. But now if you plant the rose where it can thrive, you end up with a beautiful flower. The hardier plant still looks nice but it isn't nearly as stunning. This same sort of thing can happen with genes. Some people have gene versions where they do fine in most any situation. They are the pretty, hardy flower. But some people have genes that allow that to be spectacular or sickly depending on how they are raised. They are the roses of the world. One of the best characterized examples of a “rosy” gene is called SERT. This gene comes in two different versions (or alleles)-short (S) and long (L). People with only short versions are at a much higher risk for becoming clinically depressed. This makes depression sound a bit like sickle cell anemia-two copies of a certain version leads to disease. The parents who have depression on mom's side of the family might decide to screen their embryos and select only those that have at least one long version of the SERT gene. Now their child would be at a much lower risk for depression. What our parents may have missed, though, is that the increased depression risk happens only when the child is abused. A deeper look at VOLUME 22 NUMBER 6

the data shows that people with only the S version who had a happy childhood were actually less likely to be depressed. These folks were more resilient and better able to handle the stress of everyday life. In other words, people with only the S version are roses. Plant them in the right environment and they'll be spectacular. People with the L version are hardy plants that do fine anywhere. By striving for genetic perfection, the parents have robbed their children of the chance to be amazing. They've created a competent accountant, not an Einstein. So this is what happens when our parents try to decrease their child's chances for being depressed by getting rid of the short version of the SERT gene. But what about dad's family history? Remember, his fami-

“By striving for genetic perfection, the parents have robbed their children of the chance to be amazing.’” ly suffers from type 2 diabetes. Right now scientists haven't found anything nearly as solid as the SERT gene for type 2 diabetes. They just don't have a good handle on the genetics of this disease yet. But let's do a little thought experiment… One of the ways that scientists are looking into increasing human lifespan is through something called caloric restriction. They know that if they restrict the number of calories that a mouse or nematode eats every day, these animals can live up to twice as long as normal. The hope is that something similar will be true in people. Imagine, though, that caloric restriction only works in people with a certain version of a gene. And that in the wrong situation, that gene version can lead to type 2 diabetes. Since type 2 diabetes studies are easier and faster that lifespan ones,

scientists would undoubtedly uncover this gene version's link to type 2 diabetes first. The parents who have diabetes on dad's side of the family don't want their child to develop type 2 diabetes and so they select embryos that lack this gene version. Much later scientists find out that people with the “diabetes” gene version live longer if they limit the calories they eat. By making sure that their child does not have this gene version, these parents have forced the child to live a shorter life compared to the other kids. But at least the child is at a lower risk for type 2 diabetes! Just messing with two genes has led to a child who won't do as well in tough situations and who won't live as long. What sort of child would develop if parents selected even more of the child's genes? There are undoubtedly hundreds or thousands of other “rosy” genes out there that can be good or bad depending on the situation. Rise of the Rosy Imagine a future where some people can afford genetic screening (and so get it) and most other people can’t. Because of rosy genes, screened people lose their chance at being a genius or super athlete. In this case we might have a future that is the opposite of the one portrayed in the film Gattaca. In that movie, the people who had undergone genetic screening were the ones in power. And through their superior DNA, they were going to stay that way. Yet because of their selection against rosy genes, we could imagine the screened people might start out in power but be overthrown by the superior unscreened. A rosy future indeed. Barry Starr , PhD, runs Stanford University’s Stanford at the Tech program at the Tech Museum of Innovation in San Jose, California. He is also a Geneticist-in-Residence at the Tech Museum.

GENEWATCH 15

Liberation or Enslavement? Becoming our tools: contemplating the posthuman condition

BY ELAINE GRAHAM

An extract from Representations of the Post/Human: Monsters, Aliens, and Others, Manchester University Press (2009).

“… the question can never be first of all “what are we doing with our technology?” but it must be “what are we becoming with our technology?” - Philip Hefner, Technology and Human Becoming 1 At eleven o’clock on the morning of 21 June 1948, in a workshop in a tiny side street on the campus of the University of Manchester, a team of mathematicians and engineers conducted the world's first successful electronic stored-program computing sequence on a machine they named ‘Baby’. Since then, computer-mediated communications have transformed the abilities of their users to store and pro¬cess information - and, more widely, they have changed leisure habits, the jobs many people do, and the types of machines that fill offices, shops and homes. Together with the identification, half a decade later, of the structure of DNA, the birth of 'Baby' has triggered a technological and cultural revolution. I want to focus here on the impact of these technologies, the digital and genetic respectively: not just upon our material and economic existence, but upon our very experiences and understandings of what it means to be human. T h e ‘ P o s t h u m an C o n d i t io n ’ : B e in g and Becoming Reference to the so-called 'posthuman condition'2 is becoming commonplace to denote a world in which humans are mixtures of machine and organism, where nature has been modified by technology, and technology

16 GENEWATCH

has become assimilated to form a functioning component of organic bodies. But the impact of digital and genetic technologies is not simply a scientific or ethical issue; it carries a number of deeper, existential implications. Firstly, the digital and biotechnological age challenges our assumptions about what it means to be human because new technologies are transforming our experiences of

things like embodiment, communication, intelligence and disease, even blurring the very distinctions between the ‘organic’ and the ‘technological’, between humans, machines and nature. For some, this is not simply a matter of coming to terms with the economic and cultural impact of new technologies, but as the opening quotation suggests, it also challenges the very nature of human ontology - our being and becoming. Secondly, it raises questions of the kinds of images, discourses, authorities and narratives that will be deci-

sive in helping us to debate the very question of what it will mean to be human in the twenty-first century. I am particularly concerned with the relative influence wielded by scientific institutions and discourses, by the media, by popular culture and by religion in advancing and adjudicating this question. It's intriguing to note how much debate about the impact of new technologies on Western culture involves a further blurring of supposedly impermeable boundaries: between scientific objectivity (the world of fact) and that of cultural representation (the world of fiction). As Katharine Hayles argues, “culture circulates through science no less than science circulates through culture” - in itself, perhaps, a postmodern acknowledgement of the constructedness of scientific theories, a contention that science does not report on or portray an a priori reality, but is dependent on wider cultural metaphors to weave a narrative about the world. This will often draw on images, analogies, other narratives, to achieve rhetorical effect. Thus, the Human Genome Project is depicted not only as a scientific exercise but as a heroic quest for the ‘holy grail’ or the ‘code of codes’; Francis Bacon’s discourse of science rests on an image of the male appropriator seizing nature and forcing her to relinquish her secrets; and witness the continuing potency of the Frankenstein myth in informing public reception of genetic technologies. All of these suggest a creative interplay between science and culture. But similarly, popular culture - science fiction especially - becomes both enthusiastic advocate and critical opponent of science and technology. Different representations of the ‘posthuman’ in scientific literature and popular culture may not simply be neutral depictions, therefore, but in

NOVEMBER - DECEMBER 2009

fact expressions of deep value-judgements as to what is distinctive about humanity, and what should be the relationship between humans and their tools and technologies. These questions are perhaps not only about viewing technology as ‘saviour’ or ‘servant’, but about our own very existence: about the nature of life and death, the potential and limits of human creativity, about humanity’s very place in the created order. And so, if the future is one of aug¬mented, modified, virtual, postbiological humanity, what choices and oppor¬tunities are implicit in the hopes and anxieties engendered by the technologies that surround us? What understandings of exemplary and normative humanity will be privileged in the process - and who will be included or excluded from that vision? In what follows, I have sketched out four alternative responses to the dilemma of what it will mean to be human in a technological age. Liberation or Enslavement?

(a) Creation out of control In the mid-1990s, public concern over the effects of genetically-modified crops was accompanied - and fueled - by media references to ‘Frankenstein Foods’. Even Monsanto, the multi-national biotechnology corporation, saw fit to counter what it regarded as the negative publicity this occasioned.3 Associations with mad scientists and monstrosity evoke (deliberately?) a reaction of horror and suspicion - of creation turning on its creator who dares to ‘play God’. The alliterative quality of the term adds to its impact; but in comparison to more neutral terms such as ‘geneticallymodified crops’ we are presented already with a powerful set of allusions and associations. Science and popular culture/myth are interwoven in the way these issues are represented. Note also how theological themes are evoked, however incoherently: the notion of ‘playing God’ plays on fears that humanity has in some way usurped the creator, which is of course a long-standing theme in cultural engagement with technologies. The subtitle to Frankenstein was, after all, VOLUME 22 NUMBER 6

“The New Prometheus”; Mary Shelley evoking the Greek myth of the mortal who stole fire from the gods and who was punished as a consequence.

(b) Dehumanisation Fritz Lang’s Metropolis, made in 1926, articulates both the wonders of mechanization, but corresponding fears too. Set in the year 2000, the city from which the film takes its name is fatally divided. Whilst the sons and heirs of the factory magnates disport themselves in a roof-top garden of delights, the working populace is enclosed in a subterranean world of unremitting drudgery. The opening scenes of the film depict ‘The Day Shift’ as a human collective robbed of individual will or personality. The lethargy of the workers, their movement as one, suggests a

“According to transhumanists ... machinic evolution will complete the process of natural selection.’” fear of the loss of individuality in the era of mass production and central planning. Interspersed with shots of the pumping of pistons and the spinning of cogs and wheels are pictures of a futuristic, decimal clock-face, a juxtaposition which communicates how the relentlessness of time, the rhythms of machinery and the imperatives of productivity take precedence over human need. So the wealth and technological sophistication of the city has its downside: and the workers in their underground labyrinth have become dehumanised by their routine, slaves to the relentless demands of the assemblyline. Like the robot Maria, designed to suppress a workers' cult, the underground masses have become automata, driven only by the imperatives of machinery and efficiency. There is also a contrast in the film between the workers’ factory workplace and their

subterranean home, where Maria the preacher-prophet propagates values of the heart, affectivity and spirituality, in contrast to the dehumanising forces of industry. This expresses an important theme, therefore, of technology effecting a kind of disenchantment; not only the erosion of something distinctively human, but the loss of some spiritual essence of human nature.

(c) Technocracy This is a third position, in which technologies are neutral instruments, merely means to an end. It is often allied to an unreconstructed futurism, in which technology solves our problems, grants us unlimited prosperity, guarantees democracy, fulfils our every desire, and is very pervasive in the media and other representations of popular science. In his book Visions, the JapaneseAmerican physicist Michio Kaku predicts a world of microprocessors that will be so cheap to manufacture that we will treat them like so much scrap paper in 2020; there will be ‘smart’ machines that think and anticipate our needs; by 2050 there will be intelligent robots and by 2100 self-conscious, sentient artificial intelligence. Technology is elevated to mythical status: “The Internet will eventually become a ‘Magic Mirror’ that appears in fairy tales, able to speak with the wisdom of the human race.”4 Similarly, in describing his own (temporary) trans¬formation from organic human to cyborg via the implantation of a silicon chip transmitter in his forearm, Kevin Warwick is expansive in his speculations about the potential of such technological enhancement. ‘Might it be possible for humans to have extra capabilities, particularly mental attri¬butes, and become super humans or, as some regard it, post humans [sic]?’.5 His enthusiasm encapsulates perfectly the vision of those who see the promise of cybernetic technologies as going beyond mere clinical benefits to embrace nothing less than an ontological transformation. Warwick sees no limit to the transcendence of normal physical and cognitive limitations, an achievement that for him signals nothing less than a new phase in GENEWATCH 17

human evolution.

(d) Evolution For some, technologies promise the evolution of homo sapiens from organic to silicon-based life. This perspective is sometimes known as 'transhumanism'. Transhumanists argue that, augmented and perfected by the latest innovations in artificial intelligence, genetic modifications, nanotechnology, cryonics, the human race will be liberated from the chains of poverty, disease and ignorance, to ascend to a better, higher, more superior state: the 'posthuman' condition. With the aid of technological enhancements, human beings can guarantee themselves immortality and omnipotence (Regis, 1990; More, 1998). Machinic evolution will complete the process of natural selection. The apotheosis of the transhumanist ethos is to be found in a group known as the ‘Extropians’, their name encapsulating their quest to defy entropy as expressed in human bodily deterioration such as disease and ag¬ing. The transhumanist spirit of technological and evolutionary inevitability expels defeatism and negativity, qualities that have no place in the Extropian world. One of their leading gurus, Max More, puts it this way: No mysteries are sacrosanct, no limits unquestionable; the unknown will yield to the ingenious mind. The practice of progress challenges us to understand the universe, not to cower be¬fore mystery. It invites us to learn and grow and enjoy our lives ever more.6 Yet this is not a human distinctiveness grounded in embodiment or even rational mind per se so much as a set of abstract qualities enshrined in a human ‘spirit’ of inventiveness and self-actualization: It is not our human shape or the details of our current human biology that define what is val¬uable about us, but rather our aspirations and ideals, our experiences and the kinds of lives we live. To a transhumanist, progress is when more people become more able to 18 GENEWATCH

deliberately shape themselves, their lives, and the ways they relate to others, in accordance with their own deepest values.7 While many of transhumanists' proposed technological developments are yet to be realized, it may be more appropriate to regard transhumanism, like all other posthuman thinking, as another kind of thought experi¬ment, which, like fictional representations of technologized humanity, serve to illuminate and refract deeper hopes and fears. What makes transhumanism such a vivid example of posthuman thinking is the way in which it articulates a particular set of humanist ideals and transposes them into the technological sphere. Transhumanists deliberately harness the aspirations of Enlightenment humanism and individualism as a philosophical underpinning for their endea¬vours. In its endorsement of human self-actualization unconstrained by fear, tradition or superstition, transhumanism exhibits a secular scepticism towards theologically-grounded values, arguing that these serve to rationalize passivity and resignation in the face of human mortality and suffering. As to technology, I think we can see how this tendency regards it not as threat but promise. Implants and prostheses, artificial intelligence, smart drugs, gene¬tic therapies and other technological fixes will compensate for our physical limitations, overcoming even the existential challenge of mortality. Technology thus furnishes humanity with the means to complete the next phase of evolution, from homo sapiens to ‘techno sapiens’.

what the purpose of humanity is, what will contribute to human flourishing, what threatens human integrity, and so on. The various representations of the posthuman are a tribute to humanity's propensity for constructing new technological worlds, but reveal also our tendency to invent other worlds of meaning and value, and to invest these creations with diverse hopes, fears and aspirations. For embedded in the various representations implicit in new technologies are crucial issues of identity, community and spirituality: what it means to be human, who counts as being fully human, who gets excluded and included in definitions of the posthuman - and in our understandings of the nature of the God in whose image we have been formed. How we conceive of God will, even in a supposedly secular age, still impinge on the kinds of normative and exemplary models of divine nature and human destiny that fuel our technological dreams. Exercising some control over the posthuman future will necessitate not just ethical debate, but, I contend, a theological orientation also. That's because, in thinking about the values embodied in these representations, we are effectively asking a theological question: in a digital and biotechnological age, what choices, destinies and ideologies - has Western culture chosen to elevate as its objects of worship? Elaine Graham , PhD, is Grosvenor Professor of Practical Theology at the University of Chester.

Conclusion So, new technologies promise to enhance lives, relieve suffering and extend capabilities, yet they are often also perceived as threatening bodily integrity, undermining feelings of uniqueness, evoking feelings of growing dependency and encroaching on privacy. But whether advanced technologies are to be regarded as essentially bringing enslavement or liberation will be shaped by implicit philosophical and theological convictions about what it means to be human, NOVEMBER - DECEMBER 2009

Book Review Homegrown: The Terror Within BY ANDREW D. THIBEDEAU I. In the words of late literary critic Dorothy Parker, Cialan Haasnic's new book, Homegrown: The Terror Within “is not a novel to be tossed aside lightly. It should be thrown with great force.” With the literary merit of a summer blockbuster, Haasnic's novel unfolds in a series of unimaginative clichés and stilted subplots-ultimately predictable despite its pretense to complexity. The novel is what literary critic Dough Davis has termed a “narrative of mass destruction,” with a plot “extrapolated from the 9/11 attacks and visual and narrative detail that possess a high degree of technological and geopolitical verisimilitude.” What in the parlance of popular culture would most likely be called a “thriller,” Haasnic's work fits best within the subgenre of political science fiction. Ironically, the novel's ultimate failing is how it undermines both the political and scientific public discourse from which it draws its content. Haasnic's plot-strung together across four hundred pages, ninety eight chapters, yet only one dimension of character development-centers on Meredith Statter, the book's “reluctant” heroine. The reader first encounters Meredith at a low point in her career as a mathematical genius, having recently been dismissed from her teaching position at the University of California. A curious choice on the part of the University, as Meredith had just derived a “Theory of Everything”-a set of equations that, when properly fed into an adequate number of supercomputers, could predict with absolute certainty anything from the winner of the next presidential election to what she will eat for breakfast the day after winning the race. Meredith's theory is even able to preVOLUME 22 NUMBER 6

dict with deadly accuracy when and where otherwise unpredictable events-bioterrorist attacks, for example-will occur. Nifty stuff-especially when the government arrives at her door desperate to improve its track record in terrorism prediction. At the urging of Paul Hopkins, a “world-weary” government agent who nevertheless “retained his boyish quality,” Meredith agrees to train her mathematical crystal ball on the shadowy enemies of the Homeland. With an oversized budget and broad authority at their disposal, Meredith and Paul quickly populate an abandoned California warehouse with supercomputers and begin their quest to accurately predict future “human activity and behavior”-an ambitious goal that Meredith nevertheless estimates is at most a few months away. Their timing could not have been more perfectly choreographed, for at exactly the same time a murky constellation of ill-intentioned actors began to slowly tilt into alignment. Calling themselves the Guardians of Patriotism-the “GOP” for short-this loose alliance of semiautonomous villains each set to work upon their portion of their ultimate scheme: simultaneous chemical, biological, and cyber attacks on major US cities-and one private estate in the Santa Barbara hills, where the President's daughter was due to take her wedding vows. The ultimate rational guiding the GOP's treasonous machinations lay in this final target: where one vial, one canister, one crate slipped quietly past security would easily decimate the First Family and their powerful guests, dealing a fatal blow to the US government. To these sinister ends, the GOP carefully planned, developed, and tested a revolutionary bioweapon. This weapon consisted of two parts: a

Homegrown: The Terror Within By Cialan Hassnic Bournos, 2009

genetically-engineered pathogen of gruesome lethality and a mercilessly efficient delivery mechanism. The first component of their depraved dynamo was created in the basement of a successful but misanthropic urologist in Chestnut Hill, Pennsylvania. Once a promising researcher specializing in infectious diseases, the distractingly-named Dr. Paine followed his heart-and his future ex-wife-into mundane medical practice instead. The failure of his marriage, the success of his practice, and his growing bitterness over the life they both denied him eventually lead Dr. Paine to build a Level 4 biohazard laboratory in his basement. There, through trial and error, he eventually succeeded in creating a “superbug” of truly apocalyptic potential in a process that merged the most lethal features of bacterial pathogens with the virulence of viral infection. All the while assuring himself of his sanity, Dr. Paine coveted what his ancestor Thomas Paine had described as the “power to begin the world over again.” The second half of the GOP bioweapon, the delivery system that GENEWATCH 19

would provide the crucial connection between Dr. Paine's contagion and its intended victims, had been simultaneously developed by a character who, for most of the novel, Haasnic refers to only as “the mosquito man.” Elsewhere in the novel, Meredith correctly explains to Paul that “[m]osquitoes are the deadliest disease carriers on the planet.” Taking his cue from Nature herself, in the solitude of his orchid nursery in the California hills, the mosquito man produced a hardy breed of mosquitoes whose thirst for blood would be an ideal delivery “vector,” swarming in deadly stealth until the pathogen had done its wicked work. While this illusive figure is eventually identified, by the latter quarter of the book the untidily-woven subplots leave the reader wondering precisely how he achieved his creation. Dr. Paine was an associate of the mosquito man, and thus genetic engineering may have had a hand in it. At one point the text describes the mosquitoes as “bioengineered,” while elsewhere Haasnic explains that the insects' life cycle had been “reduced through breeding.” However he accomplished his task, the mosquito man succeeded in creating a tenacious and quick-hatching breed of vampiric insects. II. Haasnic's novel is a “narrative of mass destruction,” situated at the intersection of the post-9/11 popular discourses of the biosciences and terrorism. It portrays a world where an apocalypse can be brewed in a basement, where complex webs of conspiracy connect otherwise interchangeable villains, each equipped with the means, motive, and opportunity to enact terror on a national scale. The world Haasnic creates-one indistinguishable from the bulk of “biothrillers” on bookshelves todayis more than mere entertainment. The fear and anxiety this biothriller injects into popular culture both draws attention away from real health risks, and strengthens the ideologies that have allowed the US government to enact “strategies of preemptive war and homeland defense.” 20 GENEWATCH

The leading causes of death in the US today are cancer and heart disease, not viral infection (natural or otherwise). Nevertheless, “narratives about superbugs still remain popular subjects for media attention.” Haasnic's narrative and others like it - products of popular demand markets - “manipulate the symbolic and literal threat [of disease] as well as the attendant panic out of all proportion.” Since the early twentieth century, popular culture has embraced disease narratives as a commodity-something to be popularized, advertized, and sold. In the process, “epidemic entertainments popularized disease templates that inevitably skewed public discourses about disease . . . [and] laid the foundation for the modern culture of fear.” The truth is that suburban urologists like Dr. Paine do not breed

“By manipulating public fear to achieve commercial popularity, narratives of mass destruction such as Haasnic's Homegrown ... narrow possibilities and limit imagination.” super-plague in their basements. There are no shadowy figures like the mosquito man, quietly biding their time among us while their villainous, genetically engineered plans take root. These characters belong to science fiction, but in the cultural context of the early twentyfirst century they seem as real as global nuclear war appeared to a previous generation. Haasnic's novel about the “war-on-terror-to-come blur[s] the distinction between fiction and fact by conflating them” in the domain of the speculative. As such, it becomes more than science fiction: it becomes politics. In his argument for the Iraq war, former President Bush warned the

nation that it would only take “one vial, one canister, one crate slipped into this country to bring a day of horror like none we have ever known.” This story also belongs to science fiction; however, deployed by President Bush as a kind of strategic fiction, it succeeded in generating the desired fear and panic that paved the way for the invasion of Iraq. Science fiction in the form of narratives of mass destruction has become a political trope, “dramatizing for a mass audience the newly threatening character of the world and the terrifying future.” At its best, science fiction offers “a world made strange in some creative, useful way.” It is “the imaginative inhabitation of new possibilities” that gives science fiction its “vigor and power.” The power of science fiction's “world made strange” lies in its ability to access what twentieth-century French philosopher Paul Ricœur called “the metaphorical notion of truth.” Metaphorical truth “is a question of the reader the reader suspending, or bracketing off, their judgment regarding the literal truth of the proposition,” and in so doing the text “opens up new possibilities” through “an imaginative and creative act.” By manipulating public fear to achieve commercial popularity, narratives of mass destruction such as Haasnic's Homegrown have the opposite effect: they narrow possibilities and limit imagination. Real health risks like cancer and cardiovascular disease will be ignored because images of genetically-engineered super-plague demand the gaze of popular culture. Thousands will continue to die because politicians legitimize “defense” strategy with tales of terror indistinguishable from those found in novels. It is for these dire reasons that Haasnic's novel should not be tossed aside lightly. It and the genre of mass destruction narratives of which it partakes should be resisted with great force. Andrew D. Thibedeau , J.D., is a Fellow with the Council for Resonsible Genetics.

NOVEMBER - DECEMBER 2009

Fighting Genetic Discrimination in Canada A new coalition takes up the cause BY JO ANNE WATTON While the United States, U.K. and many European counties have passed laws prohibiting genetic discrimination, Canada lags behind. Because Canada has a universal health care system, access to life, disability and critical care insurance - rather than health insurance - are the biggest issues at stake. For example, 27-year-old Katie Lingard was recently told by a major insurance provider that she would have to prove that she didn't carry the gene for Huntington disease, a disease that runs in her family, in order to qualify for the life and long-term disability insurance she needed to set up a chiropractic practice. The evidence of genetic discrimination in Canada isn't simply anecdotal, however. A 2006 survey of Canadians at risk for Huntington disease found that 39.9% had experienced discrimination. Conducted in genetic clinics and movement disorder clinics across the country, it was the first large-scale, empirical study of the nature and prevalence of genetic discrimination among people who are currently healthy but predicted to develop a genetic disease, based on genetic testing or family history. Life and disability insurance companies were the main source of discrimination, with 29.2% of respondents reporting their applications for coverage were rejected, their premiums were increased, or they were forced to take a predictive test before they could obtain coverage. Just under 7% reported employment discrimination. The vast majority of Canadians don't feel this is acceptable. In a 2003 poll on genetic privacy issues, 91% said that insurance companies should not be allowed access to their genetic information for an insurance assessVOLUME 22 NUMBER 6

ment, while 90% opposed employer access to the genetic information of their employees or job applicants. In focus groups conducted as part of the survey, public opinion was clear. Although Canadians recognized that insurance is a private contract between an individual and a company, most believed that allowing insurers to screen out genetically high-risk individuals leaves those individuals unacceptably vulnerable. The inadequacy of current legislation Currently, Canada does have several laws protecting individuals from discrimination on the basis of disability. Article 15 of the Canadian Charter of Rights and Freedoms guarantees equality and grants each person the right to not be subjected to discrimination; the Canadian Human Rights Act protects individuals against discrimination based on disability; and the Personal Information Protection and Electronic Documents Act protects the personal information of individuals. However, none of this legislation addresses the concepts of future disability, perceived disability or imputed disability. Nor does it prevent discrimination from taking place; rather, it offers remedies after discrimination has occurred. This puts

the onus on the victim of discrimination to make the complaint and then seek appropriate legal action - a lengthy and expensive process. Over the past two decades, various commissions and task forces have called for reform. In 1991, the Law Reform Commission of Canada suggested the insurance industry provide a â&#x20AC;&#x153;no questions askedâ&#x20AC;? basic level of life insurance that would offer minimum coverage to anyone who wanted it, avoiding the issue of genetic discrimination. In 2001, the Ontario Provincial Advisory Committee on New Predictive Genetic Technologies called for a moratorium on the use of genetic information by insurance companies. Most recently, a 2003 task force of academics, industry representatives and consumer support groups the Canadian Genetics and Life Insurance Task Force - called for a moratorium on the use of genetic test results and the creation of an independent advisory body. To date, none of these recommendations have been implemented, and the Canadian insurance industry's position is that if an individual has undergone genetic testing, insurers can request access to the results. , The repercussions of poor protection Genetic testing is often in the best interest of a person at risk. In some cases, the results can be used to prevent the onset of disease or ensure early detection and treatment. Someone carrying the BRAC2 gene, for example, can choose to have a preventive mastectomy to reduce the risk of breast cancer. In the case of diseases where genetics is one factor among many, gene carriers can lower their risk by making informed lifestyle choices. In cases of genetic diseases GENEWATCH 21

for which no treatments currently exist, gene-positive individuals can use their test results to make informed reproductive decisions. But in the face of potential discrimination from insurance companies and employers, many people feel the risks of genetic testing outweigh the benefits. This is the unfortunate irony of genetic testing, according to a 2005 University of Toronto Faculty of Law report: “the promise of advances in genetics for improved health and health care may be compromised by the fear of discrimination … Rather than a major medical breakthrough that may in time be able to prevent, treat or even help cure some of the genetic diseases, genetic information may be viewed as a personal, familial and societal disadvantage.” Important medical research also suffers because only a small pool of people are willing to incur the risk of discrimination in order to participate in genetic studies. In other situations, such as Katie Lingard's, insurance companies are forcing people at risk for certain genetic disorders to undergo testing, removing personal choice from a lifealtering decision. CCGF's seven-point plan Now a new group is working to end genetic discrimination. Formed in 2009, the 15-member Canadian Coalition for Genetic Fairness (CCGF) brings together health advocacy organizations and research institutes including the ALS Society of Canada, the Huntington Society of Canada, Ovarian Cancer Canada, Muscular Dystrophy Canada and the Centre for Molecular Medicine at the University of British Columbia. Ultimately, CCGF's goal is to protect the personal information of people with genetic diseases or disorders, allowing them to make the decision of whether to undergo genetic testing without repercussions from insurance companies or employers. To achieve that, we have developed a seven-point action plan:

22 GENEWATCH

1. Put forward legislation within the federal jurisdiction to prevent insurers from receiving, collecting or requiring individuals to provide genetic information or the genetic information of a family member for eligibility, coverage, underwriting or premium-setting decisions. 2. Bring together provincial and territorial governments and the Canadian Council of Insurance Regulators to take corresponding measures to eliminate the use of genetic information within their spheres. 3. Have legislation enacted to prevent genetic information from being used in employment decisions that fall under federal jurisdiction. 4. Strengthen the Canadian Human Rights Act to protect citizens from discrimination based on the potential for future disability. 5. Strengthen the Personal Information Protection and Electronic Documents Act to limit access to genetic information for commercial purposes. 6. Regulate genetic tests to prescribe their purposes, ensure their health, safety and accuracy and ensure the appropriate use of the data they generate. 7. Amend the Canadian Labour Code to eliminate genetic discrimination in the workplace. On October 6, 2009, we took our message to Parliament Hill in a highly successful “day of action.” We began with a press conference that earned national media attention, followed by a “lunch and learn” with leading researchers. We then met with more than 20 MPs from all parties to present the case for protection. In parliament, the New Democrat Health Critic Judy Wasylycia-Leis introduced a motion calling on the government to implement protection against discrimination based on genetic information, including information gathered through genetic testing and family history. Specifically, she called for effective enforcement mechanisms, along with a standing body mandated to doc-

ument cases, evaluate the effectiveness of anti-discrimination protections and make recommendations to the government about the uses of genetic information and direct-to-consumer testing. She also advocated a public awareness campaign to focus attention on the issue. Representatives from all political parties have expressed support for the motion, and the Prime Minister's Office restated the ruling Conservative party's commitment to tackle discriminatory insurance practices. Next steps While we wait for Ms. WasylyciaLeis's motion to go to a vote, we're continuing to build support among politicians, educate stakeholders and raise public awareness of the issue, as well as attract other concerned organizations to our coalition. Our key message is that all individuals carry genes that make them susceptible to diseases, and thus all Canadian are vulnerable genetic discrimination. As the number of genetic tests available continues to grow, the need to address this both nationally and provincially becomes increasingly urgent. No one among us has perfect genes - and no one should suffer discrimination as a result.

Jo Anne Watton, MSW, is Director of Individual and Family Service with the Huntington Society of Canada and an advocate for genetic non-discrimination legislation through Neurological Health Charities Canada and the Canadian Coalition for Genetic Fairness. NOVEMBER - DECEMBER 2009

Topic: DNA Databanks Are UK Police Making Arrests Just to Get DNA? In a report released by the Human Genetics Commission, a retired police superintendent in the United Kingdom claims that police officers in England and Wales routinely make arrests for the sole purpose of adding new profiles to the national DNA database. In its November report, "Nothing to Hide, Nothing to Fear?" the Human Genetics Commission found that nearly 20% of DNA profiles in the UK database - almost one million profiles - were taken from innocent people. The report also suggests that as many as three quarters of 18-35 year old black males are listed in the database, compared to around 8% of the population as a whole. In Scotland, samples may only be recorded from convicted criminals, suspects awaiting trial, and as part of a new law, suspects acquitted of serious violent or sexual offences. In England and Wales, however, anyone arrested on suspicion of nearly any crime can have their DNA profile recorded in the database, even if acquitted or not charged at all. According to the commission's chair, Professor Jonathan Montgomery, "there has been a steady 'function creep', allowing more and more people's DNA to be kept, but it is not clear that this is matched by an improvement in securing convictions."

The Real-life Characters of Cloning As these cloners (and would-be cloners) demonstrate, sometimes truth is stranger than science fiction. The Raelians This religious cult, founded by 'Rael' (previously a race car driver, journalist, and singer/songwriter), has a creation myth of their own: that humans were created from clones by aliens. The cult entered the spotlight in 2002, when Clonaid, the Raelians' own 'cloning' company, announced the first successful human clone. The baby, who they called 'Eve,' had apparently been cloned from the tissue of two grieving donors' deceased daughter. However, the Raelians declared Eve herself was not ready to be revealed to the public; eventually, they announced that her identity would forever remain a secret. Although most never took the Raelians' claims seriously, the press attention sparked debates around the world on the ethics of human cloning, and Rael himself appeared at a Congressional hearing. Hwang Woo-suk Hailed around the world for being the first to use somatic cell nuclear transfer (SCNT) to clone stem cell lines, the South Korean scientist's research was found to be fraudulent. This came after his findings had been published in Science - using images drawn from fertilized embryos manipulated to look like patients' stem cells. It didn't stop there: Hwang was also convicted of embezzling $3 million of his research funding for personal use, illegally buying ova over the internet for his research, and overseeing botched egg retrievals that sent a number of women to the hospital. Then he went to work for a pet cloning company. Missy the Dog After hearing about the cloning of Dolly the sheep, multi-billionaire John Sperling decided to look into the possibility of cloning Missy, his girlfriend's dog. Sperling assigned the task to his girlfriend's son, Lou Hawthorne, who founded Genetic Savings and Clone. After that venture folded, Hawthorne carried on, founding BioArts and Encore Pet Services - and hired Hwang Woo-suk. If you visit the BioArts website today, you will find a September 2009 note from Hawthorne announcing - "with frustration and disappointment" - the "Six Reasons We're No Longer Cloning Dogs." Reason number two: "Unethical, Black Market Competition." Compiled with help from the Center for Genetics and Society

VOLUME 22 NUMBER 6

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Interview

Dr. Eric Green Head of the National Human Genome Research Institute

Eric Green, PhD, M.D., was recently appointed Director of the National Institutes of Health’s National Human Genome Research Institute.

the Human Genome Project was mostly to address basic research questions.

I was a postdoctoral research fellow in Maynard Olson's laboratory at Washington University at St. Louis when the Human Genome Project started. I got involved in Washington University's Human Genome Center, one of the initial genome centers that were established for the project. In fact, I even presented some of the proposed work during the site review of the grant that funded and created the center. I felt like I was literally at the starting line. I didn't have a full appreciation for the historic nature of it at the time, though.

Right now, the genome research community continues to try to understand how the genome functions at a basic level. That basic understanding will help researchers make connections with genetic disease research and clinical problems. As we look towards the future, opportunities to translate that information into clinically relevant applications are increasingly going to become the focus of genomics research. NHGRI has helped to develop a broad base of knowledge, tools, and technologies that we can use to start tiptoeing into clinical research arenas. We need to better understand how to integrate genomic information into studies of disease and, ultimately, into efforts to improve peoples' health. That's a huge challenge.

H av e yo u f ou nd at th e Na ti o na l Human Genome Research Institute ( NH GR I) th at th er e i s a p u sh t o advance 'practical' versus 'theoreti cal' research?

So 'translational' research means not only translating knowledge of the human genome into diagnosis, but taking the next step into therapy … should I use the word 'therapy'?

I don't necessarily divide research into theoretical versus practical. In some ways, it's more the case of basic versus clinical research. The Human Genome Project was very focused on getting the sequence of the human and other less complex model organism genomes, such as the roundworm and mouse, to give us insights into how genomes work in general. If you read NHGRI's April 2003 publication in Nature, “A Vision for the Future of Genomics Research,” you'll find that our major focus following

Yes, translation encompasses all aspects of clinical care, including therapy. But we're not yet at the point where genomics is a routine part of clinical care. We have a long journey ahead of us, with many paths still to be explored by both basic and clinical researchers.

I u nd e r s ta nd yo u w o r ke d o n th e H um a n G e n o m e P ro j e c t s i n c e i t s beginnings - how did you start out?

24 GENEWATCH

At NHGRI, we've been thinking about translation for a long time because so much of what we do in our intramural program is to find ways to apply genomics to clinical research

activities. That kind of translational activity is often first done at a place like NIH because we have an infrastructure for doing clinical research that is second to none. The NIH Clinical Center is the world's largest research hospital. Every patient in that Center is on a clinical protocol. How do you decide when an idea is 'ready for translation' - is there a for mal way of deciding when it's appropriate to bring human subjects into it? It's not really a formal thing - you take a fundamental research approach to it. I'll give you an example. How do we understand what it is going to be like when a patient is provided with his or her genome sequence? That's a funNOVEMBER - DECEMBER 2009

damental question, right? Of course, there are already companies that are providing genetic testing and information directly to consumers. A number of years ago, we were wondering if sufficient research had been done to provide insights into how physicians would use such genomic data or how patients would respond to being presented with their genomic information. We found that more research was needed. So, we started the ClinSeq project at the NIH Clinical Center, where we're enrolling 1,000 individuals initially. We are studying what we learn from their genome sequence data, how that information might guide clinical care, how the participants deal with genomic information about themselves, and how physicians manage the information. ClinSeq is about capturing information and data about genomic medicine in a research context. One of our goals is to talk to the participants before they enroll and to study how they respond to the notion of getting genomic information about themselves. We want to hear what they think they're going to do with the information when they get it, and in some cases actually give them some of the information. Meanwhile, we will eventually sequence their entire genomes and learn how to deal with such data for addressing clinical research questions. We've enrolled almost 800 participants to date. That's the kind of framework that is needed to study the questions that everyone has about genomic medicine and get some answers before genomic sequencing becomes standard practice in healthcare. And it does seem that direct-to-consumer genetic companies can cir cumvent some of that... Well, it's not really that the companies are circumventing it. They're not VOLUME 22 NUMBER 6

doing anything illegal; they have technologies in place that can generate and provide genomic information to individuals. The real concerns revolve around what individuals, the medical system and society will do with this genomic information after they get it. So, the ClinSeq study is both about the actual data gained from sequenc i n g t h e s e v o l u n t ee r s ' g en o m es a s well as a sort of psychological study of their reactions. Right, part of our study involves analyzing information about peoples' phenotypes and their genome sequence data. However, another aspect is that we're interacting with these clinical subjects around the

â&#x20AC;&#x153; Believe me, as of today we do not understand all of the ways that DNA can confer function - itâ&#x20AC;&#x2122;s crazy to believe otherwise.â&#x20AC;? notion of gaining genomic information and capturing those interactions. We're in a position to study them long term. And ClinSeq is just one example of the kinds of things we're going to need to continue doing in the field of genomics. Another centers on genome-wide association studies- efforts to find regions of the genome that harbor variants conferring risk to complex diseases. There are some variants that tell you whether you are at higher risk for this or that disease, and coming out of that are opportunities for companies to provide that information to patients. In some ways this is exciting, but it's an oversimplifica-

tion to think that you can just provide information and that's all. Each genetic variant confers a small amount of risk that needs to be analyzed within the context of many other things, including someone's health, family history, environmental exposures, and so forth. We need research to help figure out the best ways to advise people and to help medical professionals deal with this new frontier. This is what NHGRI has been all about, and what it will be increasingly doing in the future. It's very different from 20 years ago, when the institute had one clear goal: to sequence the human genome. So this is both the vision that you h ave a nd th e d i r ec t i on t h at th e Institute was already moving? Absolutely. That's not to say that we're going to stop doing what we're already doing, because believe me, we don't completely understand how the genome works. In some ways, we're barely scratching the surface. The good news is that we are getting better and better technologies to help us do this, so what we could have learned in two or three years with the technology we had five years ago now can be learned in two or three weeks. How central is epigenetics in that research? It's one of many important sub-areas. Once upon a time, we thought all the action was in the genes and that was where all the disease-relevant variants were going to be. But then we realized there's also a lot of other, non-coding DNA that doesn't code for proteins, but is involved in a whole host of other things. Then, there's also a lot of variation not just in single nucleotides, but even in the number of copies of a stretch of DNA. All of a sudden, if you have four or five copies of some stretch of DNA, you have an increased risk for a disease. But that's not all of it: that doesn't GENEWATCH 25

account for all of the epigenetic marks that are put down on our DNA. And believe me, as of today, we do not understand all of the ways that DNA can confer function - it's crazy to believe otherwise! For example, just a few years ago, we hardly knew much about microRNAs, and now it's the rage. We now know it's not as simple as DNA makes RNA makes protein. Many RNAs are made that do things other than code for proteins. And I think there are many other surprises in the genome if we keep searching. There have been numerous studies claiming to find 'the gene for' this or that. I'm wondering, as these new c o m pl e x i t i e s c o m e u p , i f th a t research will be revisited or reconsidered. Oh, absolutely - and the environment is a whole other component here, too. Our view of the genetic architecture of disease is undergoing a major metamorphosis. It's more complicated than we ever appreciated. But it's compelling. This is not some geeky basic science research that people don't identify with. It's about understanding the complexities of disease. People will be very interested to see us work this through, even if it's complicated and takes a long time, because it's clinically important. Is there much research happening at NIH and NHGRI looking at ways in which genes may be taking more of a backseat to environmental factors than previously thought? Definitely, there are various studies, and probably more to come, where we are going to integrate environmental and genetic information. In fact, the current NIH Director, Francis Collins, has published papers proposing large population-based cohort studies. These are very expensive studies, though, because along with 26 GENEWATCH

collecting genetic and health information, they involve collecting information about environmental exposures. To do this right, such a study needs very large numbers of participants and it needs to be prospective. In the press release, you mention that part of your job is to 'push the ap p l i c at i on of g eno mi c s i nt o al l ar e as of b i om e d i ca l r e se ar c h. ' Correct me if I'm wrong, but it almost sounds like part of your job is sort of selling the technology? I didn't mean to give that impression, perhaps 'facilitating the dissemination of genomics' into other research areas would have been a clearer way to put it. Let me give you an example. Did you realize there were more Recovery Act funds given to our big three sequencing centers by other NIH institutes than by NHGRI? That's sort of cool, right? It means that other NIH institutes working on specific diseases whether it's heart disease or mental illness or diabetes - are looking for the most compelling opportunities that will help advance their research agenda. And they voted with their feet. They infused significant amounts of money into the three sequencing centers that NHGRI has been developing and supporting for the last 20 years. It shows we have created knowledge and expertise that's valuable not only for understanding the genome, but for studying complex diseases like cancer and autism. We regard that as a complete success. You also mention collaborating with a wide range of researchers, in 'all areas of biomedical research.' That's a very large space - do you really mean 'all areas'? Well, I can't think of an institute at NIH that isn't somehow using genomics. Actually, I'd go beyond the NIH - think of the National Science Foundation or the United States

Department of Agriculture. Genomics is everywhere, whether you're studying disease or evolution or how to make better crops. Genomics is a very integrative discipline. Is NHGRI working much with behavioral medicine? Without question, this is part of what we do. One of the first things I did here about six years ago as the NHGRI Scientific Director was to create the Social Behavioral Research Branch. The social implications research now performed by this branch involves addressing some behavioral questions relating to genetics and genomic research. Such research is now starting to be performed by other institutes as well. You were talking earlier about how much more complex connections are b e t w e e n g e n om i c s a n d p h e n o t y p e than we thought, and it seems that s oc i al an d b e ha v i o r al m an i fe st a tions of genes would be especially complex. Certainly. The scientist who heads our Social and Behavioral Research Branch, Colleen McBride comes to mind - her previous area of research dealt with smoking cessation. The common theme is that just because you give people information, it doesn't automatically lead them to change their behavior in a healthy way. People know that smoking is not safe, so why do they do it? That might not be very different from someone in the future getting definitive information that they have a genetic predisposition to a disease. How will that information change their behavior? Research in this area is going to be critically important for implementing genomic medicine. Considering how broadly genomics can be applied - and considering how big your budget is this year - how much does NHGRI seek out projects to fund rather than waiting for the projects to come to you? NOVEMBER - DECEMBER 2009

Trust me, we have far more people who want to interact with us or get grant money from us than we can accommodate. That's not a problem. The other part of the mix is when we come up with ideas and put out a request for applications in that area. Like most NIH institutes, it works both ways, but we are an institute that has a reputation for developing large multi-investigator initiatives that we want to pursue. The Human Genome Project was a

classic example. NHGRI was initially created to lead that project. After that, we launched a whole series of initiatives that built upon the foundation laid by the human genome sequence. For example, we started an initiative called the Encylopedia of DNA Elements (ENCODE) to catalog and understand the functional elements of the human genome. We also funded research to develop innovative technologies to sequence a human genome for $1,000 or less; the HapMap Project, which devel-

oped a map of common human genetic variation; and the Genetic Association Information Network, a set of genome-wide association studies to help us understand the genetic basis of complex diseases. We tend to be more initiative-oriented - but if a researcher comes to us with a great idea, we look to see how we can make it happen.

Endnotes “Interview With the Gene,” Jon Turney, p. 8. 1. Dawkins, R. (1976) The Selfish Gene. Oxford, Oxford University Press. 2. Pollack, R. (1994) Signs of Life: The Language and Meanings of DNA. New York, Viking; Rose, S. (1997) Lifelines: Biology, Freedom, Dererminism. London, Allen Lane 3. Keller, E. (2000) The Century of the Gene. Cambridge, Ma, Harvard University Press. 4. Nerlich, B., Hellsten, I. (2004) Genomics: Shifts in metaphorical landscape between 2001 and 2003. New Genetics and Society, 23, pp. 255-68. 5. Dawkins, R (2000) “How do you wear your genes?” Evening Standard Online. April 3. 6. See also Turney, J. (2005) “The sociable gene.” EMBO Reports, 6 pp. 808-10. 7. Weigmann, K. (2004), “The code, the text and the language of God.” EMBO reports, 5, pp. 116-118 8. Condit, C (1999) The Meaning of the Gene. Madison, WI, University of Wisconsin Press. 9. Ogborn, J., Kress, G., Martins, I., McGillicuddy, K. (1996) Explaining Science in the Classroom. Buckingham, Open University Press. 10. Ogborn et al, page 10. 11. Dawkins (2000). 12. Zimmer, C. (2008). “Now: The Rest of the Genome.” New York Times November 11. www.nytimes.com/2008/11/11/science/11gene.html “Liberation or Enslavement?” Elaine Graham, p. 16. 1. Philip Hefner (2003), Technology and Human Becoming, Minneapolis: Fortress. 2. Robert Pepperell (1995), The Posthuman Condition, Intellect. 3. Monsanto Corporation (1999), 'Frankenstein Food? Take Another Look', (online), available at http://www.searchmonsanto.com/monsanto-uk/frankensteinfoods. html, 2pp, [accessed 23 November 1999]. 4. Michio Kaku (1998), Visions: How Science will Revolutionize the 21st Cen¬tury and Beyond, Oxford University Press, pp 14-15. 5. Kevin Warwick (2002), I, Cyborg, Century, p 275. 6. Max More, (1998), 'The Extropian Principles: A Transhumanist Declaration, Version 3.0', (online), available at http://extropy.org.extprn.html, 13pp [accessed 19 March 1999]. 7. Nick Bostrom et al (1999),'The Transhumanist FAQ', 13 May, avail¬able at htttp://www. trans¬humanist.org [accessed 20 August 2000].

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