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Volume 26 Number 2-3 | May-July 2013

Also featuring: Tania Simoncelli and Karuna Jaggar on the landmark Myriad gene patents decision George Annas on informed consent in medical genomics ISSN 0740-9737


Vol. 26 No. 2-3

Special Update: Gene Patents 5 AMP v. Myriad: Preliminary Reflections The story behind the groundbreaking Supreme Court decision. By Tania Simoncelli 7 Ruling to Overturn Human Gene Patents Is a Huge Win for Women’s Health Myriad Genetics’ 15-year monopoly on BRCA testing comes to an end. By Karuna Jaggar 10 Scientific Americans Most of us haven’t taken a biology class in years, maybe decades. Can we still be genetically literate? Interview with Michael Dougherty 13 Becoming Mr. Proficient: Junior High Genetics How do you get 8th graders interested in learning about genetics? It can be done, and it involves dance parties. By Vani Kilakkathi 16 Teaching Social Justice in Science Because of myths and gaps in scientific education, scientists are often unprepared when confronted with an egregious misuse of science. By Morgan Thompson, Benjamin T. Morris and Jon Beckwith 18 Changing the Subject: Educating Research Participants What do you need to know before agreeing to share your genome with the world? Interview with George Church 20 Genomic Tools for Clinicians Advances in medical genomics will translate into health benefits much faster if clinicians have a way to keep up with them. By Sara Riordan, Bedir Shather, Elissa Levin, and Paul Billings 22 The Genomics Education Imperative Understanding the basis of genetic disease and their treatments is becoming more and more essential for both clinicians and patients. By Douglas L. Brutlag 24 Defying Determinism with Healthy Living Genetics may load the gun, but a healthy lifestyle can foil the factors that would pull the trigger. By Martha Herbert

26 “Why Do I Need to Know This Stuff?” Teaching young adults about personal genetics is not only important in its own right—it can also be a way to get them invested in learning about the science of genetics. By Ann Zeeh 28 The Big Picture, for Young Minds At a high school focusing on health and science careers, genetics and bioethics lessons start early. By Stacey Wickware 30 Bringing Science Out of the Clouds A region-specific approach to teaching ecology serves as a model for how to keep students engaged in complex science topics. By Yael Wyner and Rob DeSalle 31 High School Bioethics A high school incorporates bioethics topics in science classes - and into social studies, and English, and art ... By Eran DeSilva 33 A Lesson in Race, Genes, and IQ A museum exhibit gets students to think critically about claims linking IQ scores to race. By Peter Taylor 36 Communicating Complexity The National Human Genome Research Institute’s Education and Community Involvement Branch takes on public genomics education. Interview with Vence Bonham 38 What You Know That Just Ain’t So The public could be excused for believing that we have already entered the age of personalized genomic medicine, considering how widely and confidently the hype has been peddled. By Donna Dickenson **** 40 Incidental Findings and Informed Consent A new set of recommendations for laboratories performing clinical genome sequencing breaks from some longstanding medical precedents. Interview with George Annas 42 Fertility Cynics Excerpts from Cracked Open: Liberty, Fertility and the Pursuit of High Tech Babies. By Miriam Zoll 44 “Democratizing Creation” with Glowing Plants A start-up company raises hundreds of thousands of dollars to create plants carrying a synthetic gene that makes them glow … and to ship them all over the country. By Pete Shanks 46 Topic Update: Forensic DNA Supreme Court Allows the Taking of DNA Upon Arrest 47 Endnotes

GeneWatch May-July 2013 Volume 26 Number 2-3

Editor and Designer: Samuel W. Anderson Editorial Committee: Jeremy Gruber, Sheldon Krimsky, Ruth Hubbard GeneWatch is published by the Council for Responsible Genetics (CRG), a national, nonprofit, taxexempt 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

board of directors

Sheldon Krimsky, PhD, Board Chair Tufts University Evan Balaban, PhD McGill University Paul Billings, MD, PhD Life Technologies Corporation Sujatha Byravan, Phd Centre for Development Finance, India Robert DeSalle, Phd American Museum of Natural History Robert Green, MD, MPH Harvard University Jeremy Gruber, JD Council for Responsible Genetics Rayna Rapp, PhD New York University Patricia Williams, JD Columbia University staff

Jeremy Gruber, President and Executive Director Sheila Sinclair, Manager of Operations Samuel Anderson, Editor of GeneWatch Andrew Thibedeau, Senior Fellow Vani Kilakkathi, Fellow Cover Design Samuel W. Anderson Editorial & Creative Consultant Grace Twesigye Unless otherwise noted, all material in this publication is protected by copyright by the Council for Responsible Genetics. All rights reserved. GeneWatch 26,2-3 0740-973

4 GeneWatch

Editor’s Note

Samuel W. Anderson

Working on this issue made me start worrying—not about the issue but about me. As I was doing the background research, the same nagging thought kept coming up: I haven’t had any formal schooling in genetics—in biology, even—since I was 20 years old. This wasn’t breaking news, and of course the same is roughly true for most people, scientists and medical professionals aside. Still, I couldn’t help but feel hypocritical. Here I was, putting together a magazine issue about the state and importance of genetics education in today’s world, and I had to look up “telomere.” As I went through the articles in this issue, though, I started to realize that I’m not doing so badly after all. Not when it comes to knowledge of the molecular processes of the cell—I’m still pretty hopeless there—but on bigger-picture topics, like the value and caveats of medical genomics, the fallacies of genetic determinism, and what it means to be able to patent a gene. (Speaking of which, see the first two pieces of this issue for a vastly important special update on the legality of gene patents!) And as the contributors to this issue explain, for most adults, having some awareness and understanding of those issues is considerably more important than being able to explain the difference between meiosis and mitosis (yup, had to look that one up, too). Now, if you’re a biologist or a clinician, knowing your cell processes is probably going to be a bit more important. It’s also going to be important to know that our understanding of inheritance has shifted considerably over the last few decades, even if the textbooks haven’t necessarily. With our constantly evolving comprehension of epigentics and gene-environment interaction, Punnett squares start to look a bit quaint. Yet even for those who make a living applying their knowledge of genetics to research or medicine, an awareness of the broader implications is essential—and often overlooked. As Morgan Thompson, Benjamin Morris and Jon Beckwith point out in this issue (page 16), when students learn about the science but not about the consequences of misusing it, they become “a docile lot,” lacking something arguably just as important as a grasp of the science itself: “A strong sense of responsibility for the problematic uses of their own or others’ work that could cause social harm.” And it’s up to the rest of us to pay attention, lest we too become a docile lot. nnn

comments and submissions GeneWatch welcomes article submissions, comments and letters to the editor. Please email if you would like to submit a letter or any other comments or queries, including proposals for article submissions.

founding members of the council for responsible genetics Ruth Hubbard • Jonathan King • Sheldon Krimsky • Philip Bereano Stuart Newman • Claire Nader • Liebe Cavalieri • Barbara Rosenberg Anthony Mazzocchi • Susan Wright • Colin Gracey • Martha Herbert May-July 2013

UPDATE: Gene Patents

AMP v. Myriad: Preliminary Reflections The story behind the groundbreaking Supreme Court decision. By Tania Simoncelli On June 13th, the Supreme Court issued a unanimous decision in Association for Molecular Pathology v. Myriad Genetics that held that genomic DNA cannot be patented. Specifically, the opinion, written by Justice Thomas, found that “a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated.”1 Some initial news reports portrayed the decision as “mixed”2 or “a partial win”3 for Myriad.4 But make no mistake: The Court’s decision is an extraordinary victory for the 20 national medical societies, medical geneticists, genetic counselors, advocacy groups and individual women who became plaintiffs in this effort four years ago. As a result of the ruling, Myriad will no longer maintain a legal monopoly over any use of the BRCA1 and BRCA2 genes, Myriad will no longer dictate the standard of care and extent of testing for these genes, and Myriad’s tests – on Myriad’s terms and at Myriad’s prices – will no longer be the sole choice for women who wish to obtain their BRCA status. More importantly, this decision reaches far beyond Myriad. In fact, the goal of this case was never to invalidate only Myriad’s patents (or bankrupt the company, for that matter, as some financial news stories that focused obsessively on the rise and fall of its stock price might have led some to believe). The goal instead was to end the U.S. Patent and Trademark Office’s (PTO’s) fundamentally misguided gene patenting policy that had allowed for thousands of patents Volume 26 Number 2-3

to be issued on naturally occurring “isolated” DNA sequences over the past 30 years.5 Indeed, as a result of the decision, all existing claims to naturally occurring DNA sequences have effectively been invalidated, and no future claims of this sort will be granted. Justice Thomas’s opinion itself is short (18 pages). Its straightforward, matter-of-fact tone is in contrast to the oral argument, where each of the justices (with the exception of Thomas, who didn’t speak) grappled

As a result of the decision, all existing claims to naturally occurring DNA sequences have effectively been invalidated. with the meaning of “isolated DNA” through a series of colorful analogies and feisty exchanges. Isolating DNA was likened to extracting a medicinal substance from a tree in the Amazon, and distinguished from carving a baseball bat from a tree. In a wonderful moment, Justice Sotomayor proclaimed isolated DNA to be “just nature sitting there.” And Justice Breyer, in a terse exchange with Myriad’s

attorney, demanded to know whether he agreed with the scientific fact that isolated DNA fragments do in fact occur naturally in the body. The notion that a company could be awarded a patent on a part of the human genome is fundamentally at odds with basic intuitive sense. It is no doubt difficult for those who have not followed the twists and turns of the gene patent debate to appreciate the full ramifications of the decision. But for those of us who have been in this fight for several years, an ultimate win on gene patents – and a unanimous one at that – was truly astounding. This case began approximately seven years ago. It grew out of an effort I had the privilege of leading as ACLU’s Science Advisor at the time. My work involved identifying emerging and important issues in science and technology that had implications for civil liberties. The patenting of human genes was one of several issues that I identified as worthy of further exploration. Chris Hansen, a senior ACLU attorney who eventually became the lead litigator for the plaintiffs, was immediately taken by the idea of challenging this fundamentally flawed policy and practice. A multi-year exploration and analysis ensued, during which time Chris and I – joined along the way by Sandra Park, an attorney in ACLU’s Women’s Rights Project – spoke with dozens of researchers, pathologists, medical geneticists, genetic counselors, activists, and others around the country to get their take on whether a legal challenge in this area was a worthy endeavor and what it would GeneWatch 5

UPDATE: Gene Patents need to achieve. Most everyone we spoke with was supportive of our taking action, and some went on to become plaintiffs or experts in the case. But almost no one thought we had anything more than a sliver of a chance of winning. Patents had been issued on genes for more than 20 years, the biotech industry had grown up around this practice, the patent bar was deeply entrenched in the status quo, and several had tried and failed to change PTO’s policy through a formal comment process associated with the agency’s issuance of its utility examination guidelines for gene patent applications in 2001. Industry’s claims that the patents were necessary for encouraging investment would no doubt be a force to reckon with: in 1999, a joint statement by Bill Clinton and Tony Blair affirming that human genome data should be freely available to all scientists sent biotech stock prices plunging, apparently because some interpreted the statement to mean that gene patenting might be banned.6 Given these and other challenges, how and why did our side ultimately prevail? These are questions I will no doubt be probing for at least another seven years, but for now, I will offer a few initial insights. First, this effort didn’t begin with the filing of the case in 2009, or even the 3-4 years that led up to it. It was preceded by – and benefitted tremendously from – years of analysis, publication and advocacy that served as a foundation for our case. The Council for Responsible Genetics, in particular, had been on the record for more than 25 years as opposing gene patents and deserves significant credit for having helped to build a coalition of scientists, academics, 6 GeneWatch

environmentalists, and others who have written and spoken extensively on this issue over the years. Central to this case were our plaintiffs and key experts, an exceptional and diverse group of individuals and organizations directly impacted by Myriad’s (and in some cases others’) patents. They included clinical geneticists who had received “cease and desist” letters ordering them to stop offering BRCA testing in their labs, women who couldn’t access testing or who wanted to obtain a second opinion, genetic counselors who wanted to provide their patients with multiple options for testing, researchers who felt that unfettered access to the genome is essential for

scientific progress, and national scientific and medical organizations whose members wanted to develop better, more comprehensive tests than the one offered by Myriad. Each of these participants demonstrated extraordinary courage in joining this effort and their compelling stories about how gene patents were impacting their lives and their work were the core fabric of the case. Importantly, the law was on our side. Full-length genes, genomic DNA sequences, and genetic mutations – whether “isolated” or not – are clearly products of nature. The Court’s decision affirms what it has made clear through 150 years of

precedent; namely, that products of nature, laws of nature, and abstract ideas are not patentable subject matter under Section 101 of the Patent Act. Furthermore, something is not patent-eligible simply because it is commercially useful or because its discovery required intensive work and resources, or because it has been removed from its natural environment. As the decision makes clear, “Myriad did not create anything. To be sure, it found an important and useful gene, but separating that gene from its surrounding genetic material is not an act of invention.” We were also right as a matter of policy. We argued throughout this case that patent protection at the level of the gene is not necessary for stimulating investment in gene discovery or ensuring the development of genetic tests; instead, gene patents have served to inhibit research, data sharing, and innovation in diagnostic testing. That argument was supported with new evidence in the immediate aftermath of the decision: Within 24 hours, at least 5 labs had announced that they would begin offering testing for the BRCA1 and BRCA2 genes. Some of the labs promised to offer testing at a lower price than Myriad’s. Mary-Claire King, the researcher who is credited by the scientific community for having mapped the BRCA1 gene onto chromosome 17, announced that she will take steps to immediately add BRCA1 and BRCA2 to a multigene panel that will provide a more personalized assessment of cancer risk than is currently offered through Myriad’s testing. Timing was also key. We filed this case amidst an increasing drumbeat of promises that the $1,000 personal genome was on the horizon. May-July 2013

The notion that we would soon be able to sequence our entire genome for $1,000 made Myriad’s charge of nearly $4,000 for only two genes seem outlandishly expensive. At the same time, a number of multi-gene tests were coming onto the market, but with them came increasing concerns and stories about patent thickets interfering with their development. Science had clearly outpaced a policy that was nonsensical from the start, and some in the biotech community could no longer agree with the trade organization’s position that gene patents were necessary or even good for innovation. Three diagnostic manufacturers went so far as to join the side of the plaintiffs in the final stage of the case. The timing of our initial filing also coincided with the first year of the Obama Administration. In 2011, when the case was before the US Court of Appeals for the Federal Circuit, the Solicitor General filed an amicus brief on behalf of the United States that outright rejected the PTO’s longstanding policy and

supported plaintiffs’ position that isolated DNA is not patentable. In arguing before the Court, the Solicitor General stated: “We couldn’t write a brief that allowed the patentability of isolated DNA, for to do so would be to make lithium patentable, uranium, coal from the earth, and a whole variety of other substances … It was just impossible to do given the Supreme Court’s clear guidance.” The U.S. Government’s shift in position was a pivotal moment in the case, and no doubt an important factor in the Supreme Court’s decision to hear it. Finally, we had a little luck along the way. Perhaps most important was the random drawing of Judge Sweet in the District Court. Judge Sweet not only engaged thoroughly in the case, but had the support of a clerk who happened to have a PhD in molecular biology. The result was a beautifully written, well-reasoned, scientifically accurate, 126-page opinion that set the course for the remainder of the case. Myriad attempted at every stage of the case to confuse and complicate

the issue at hand. The company argued that it had “created” and “designed” a new molecule that had never existed before and attributed inventiveness to techniques in molecular biology that were standard even at the time that Myriad isolated the BRCA1 and BRCA2 genes. Ultimately, our side prevailed by maintaining focus on the relatively simple and straightforward legal and scientific questions at hand. The Court’s decision is a victory for women, patients, researchers and the future of medicine that should serve as a reminder to us all that with the right coalition, well timed action, support of the law, and a little luck, change is possible. nnn Tania Simoncelli served as Science Advisor to the ACLU from 2003-2010 where she played a lead role in developing the Myriad litigation. She is also coauthor with Sheldon Krimsky of Genetic Justice: DNA Data Banks, Criminal Investigations and Civil Liberties and a former board member of CRG.

Ruling to Overturn Human Gene Patents Is a Huge Win for Women’s Health Myriad Genetics’ 15-year monopoly on BRCA testing comes to an end. By Karuna Jaggar When it comes to our health, corporate interests and profits have been driving the agenda for a long time. There’s no better example than breast cancer. Over the last 30 years, companies have made billions of dollars off breast cancer by selling pink ribbon products with links to an increased risk of the disease; treatments that cost upwards of $100,000 a year Volume 26 Number 2-3

extend life by a few weeks or months; early detection is wrongly sold as prevention; and breast cancer diagnoses continue to increase (most markedly in younger women) while lawmakers drag their feet on regulating toxic chemicals. Until June 13, 2013, the commodification of breast cancer went all the way to our genes. But, I am proud to say, no longer.

In June the Supreme Court issued a historic ruling in favor of Breast Cancer Action and our co-plaintiffs in the landmark case Association of Molecular Pathology v. Myriad Genetics. The Court has rightly ruled that human DNA is a product of nature and is not patent eligible. With this sweeping ruling, the court has overturned one company’s monopoly ownership of the human “breast GeneWatch 7

UPDATE: Gene Patents cancer genes,” creating an immediate and tangible benefit for women with a known or suspected inherited risk of breast cancer. This change has been a long time coming. Ever since Myriad Genetics first patented the human BRCA 1&2 genes in the late-1990s, women and their doctors have been paying the price of one company’s monopoly control of our genes. In 2009, when the ACLU filed suit against Myriad for patenting the very DNA in our bodies, Breast Cancer Action was the only breast cancer organization to join this landmark case as a plaintiff. We have been proud and honored to work over the years with all of our fellow plaintiffs and partners, including the Council for Responsible Genetics, to end the patenting of human genes. This case matters. Many people shy away from phrases like “gene patents” but this seemingly abstract and esoteric case is truly life or death. Through its patent, Myriad controlled both of the BRCA genes, and all possible variations and mutations, and all possible uses of those genes. No researcher or doctor could test for, study, or even look at the genes without permission from Myriad. And Myriad was extremely protective of its profitable patent, routinely blocking other researchers and clinicians from work which could benefit women living with and at risk of breast cancer. As a result, medical progress, scientific research and genetic testing have been blocked and limited by Myriad’s patents. In 8 GeneWatch

the case of Myriad Genetics and the BRCA genes, we have seen a worst case scenario of what can happen when one corporation is allowed sole control over human DNA. For approximately 15 years, Myriad’s aggressive patent enforcement has meant that its BRACAnalysis test has been the only available test to determine whether someone has a genetic variant of the BRCA genes that increases their risk of breast and ovarian cancer. This monopoly means that Myriad was able to price

the test at over $3,000, several times more than what other labs said they would charge. This high price has been prohibitively high for too many women who could not afford the test or whose insurance would not cover it. To deny access to genetic testing for BRCA mutations is to deny women potentially life-saving information. Myriad’s test is not only expensive, it is outmoded by today’s standards. Myriad’s monopoly meant there

has been little to no incentive for the company to identify the significance of rare mutations of the BRCA genes—and other researchers have been blocked from studying these rare mutations. Women of color, including African Americans, Latinas and Asian Americans, disproportionately receive ambiguous test results. In essence, Myriad tells these women that they have a mutation on one or both of their BRCA genes, but Myriad doesn’t know if this mutation is linked to an increased risk of cancer or not—putting these women in an impossible position. Meanwhile, no one could try to get better answers for them. Furthermore, Myriad’s patents made it impossible for women to get a second opinion. Thanks to Myriad’s monopoly, women had no way to verify their genetic test results or get a second opinion about them. Most people expect access to a second opinion before any major medical decision, the absence of which has been especially impactful for women making decisions about increased cancer surveillance or even the removal of their healthy breasts and ovaries to reduce their risk of cancer. The direct harms to women’s health caused by Myriad’s BRCA patents include not only the problems related to accessing meaningful genetic information, they extend to the control of scientific knowledge and medical progress. At a time when we desperately need new insights into cancer prevention, diagnosis and treatment, the human BRCA patents stopped vital scientific research and medical care connected to breast and May-July 2013

ovarian cancer. One company has served for too long as a gatekeeper for all research into these genes and therefore set the research agenda— which was driven by corporate earnings from testing as well as future earnings based on all the bio-data they collected (and hoarded) from women’s bodies. For all these reasons, the Supreme Court’s landmark decision to overturn Myriad Genetics’ patents on the “breast cancer genes,” BRCA1 and BRCA2, was a tremendous victory for women living with and at risk of breast cancer—and for all patients everywhere. Women, and men, concerned about hereditary risk of breast and other cancers now have improved access to genetic testing. The very day of the Supreme Court’s ruling at least 5 companies announced they would now offer BRCA testing at a fraction of the price of Myriad’s BRACAnalysis test. Women who could not afford Myriad’s test or whose insurance did not have a contract with Myriad, will now have lower-cost options. For the first time, women who are considering their medical options will have access to second opinions. Myriad’s test has never been peer-reviewed and the FDA does not regulate genetic tests. Second opinion testing is particularly important for women considering removing healthy organs to reduce the risk of cancer as well as for women who have received an ambiguous result from Myriad’s test. Furthermore, all labs, clinics, researchers and doctors now have access to the BRCA genes, opening the door to research and studies in new areas that may lead to clinical advances in diagnosis, risk reduction, and treatment. The door is now open to research and treatment for all hereditary diseases, without fear of Volume 26 Number 2-3

patent infringement. This sweeping ruling ensures that the fundamental building blocks of life, our DNA, are available for scientific and medical inquiry and advance. Some have questioned the impact of this case because the Supreme Court has ruled that cDNA may be patentable and because the case does not challenge the vast database of biospecimens accumulated by Myriad. While the specific impact remains to be seen in some ways and each represents an important area for monitoring and diligence, neither undermines the very significant benefit of this ruling for patients everywhere. The Court found that cDNA is patent eligible, that is, it is a human creation, not a product of nature. However, the Court did not rule on whether it is patentable, that is, whether it meets the other requirements of the Patent Act. There has been much speculation that it will fail the obviousness test. And indeed the Court did not endorse patents on cDNA in general. This case does not address these issues, which will only be resolved going forward. The impact of this ruling for patients is not diminished even if cDNA patents are upheld because laboratories can conduct genetic testing without using cDNA with next generation sequencing. For the first time since their discovery, Myriad no longer holds a monopoly on the BRCA genes and all naturally-occurring variations and mutations of these human genes. The significance and impact of Myriad’s business practice of hoarding of vast amounts of biodata accumulated over more than 15 years of monopoly testing also remains to be seen. Myriad maintains a proprietary database in which it treats genetic information as proprietary

trade secrets rather than knowledge to be shared for the public good. The value of that database will diminish as publicly funded research identifies disease-associated and neutral mutations—and there are currently efforts to accelerate this. Additionally, it has been estimated that 98% of BRCA mutations are frame-sense and nonsense mutations, enabling genetic testers to provide accurate and useful information. While reassuring that the scope of the problem may not be as wide as feared by some, it remains true that the withholding of any potentially life-saving biological data is immoral and unjustifiable based on medical ethics. We know that, in the realm of public health and medicine, and specifically the field of genetics, much remains to be seen and we still have work to do. This ruling demonstrates what we can accomplish working together in a diverse coalition to advance patient welfare and public health. We have taken a tremendous step in putting patients before corporate profit when the Supreme Court made the right decision and ruled that human DNA is a product of nature and cannot be patented. This landmark ruling represents a major rollback of corporate control of our health and brings an essential diagnostic test into reach of more women. By freeing DNA, the building blocks of life, this far-reaching ruling opens the door to research and treatment for all hereditary diseases and firmly put patients before corporate profits. nnn Karuna Jaggar is Executive Director of Breast Cancer Action.

GeneWatch 9

Scientific Americans Most of us haven’t taken a biology class in years, maybe decades. Can we still be genetically literate? Interview with Michael Dougherty

Michael Dougherty, PhD, is Director of Education for the American Society of Human Genetics (ASHG). GeneWatch: What are some of the similarities and differences between the way you would approach teaching genetics concepts to a high school classroom versus the lay public? Michael Dougherty: Genetics typically gets introduced as inheritance, broadly, in middle school. And for many students who won’t be studying it in college, high school might be their last formal genetics education—or even science education— ever. So we look at not only teaching genetics, but teaching the nature of science. We think in terms of big principles of genetics that will help sustain people throughout their lifetimes as genetically literate citizens. Some of those principles are the basis of heredity in DNA, but also emphasizing that while we are learning about how genes influence our health and behaviors, so too does the environment. And we try to help students understand how the environment works through genes to exert its influence, and the very important role that the environment plays. Those same messages that we’re communicating to high school students are messages that we want to communicate to the public—be they current adults who need to have some genetic literacy, or the future 10 GeneWatch

public, which essentially are today’s high school and college students. The principles don’t change; I think what changes is just how relevant it has to be in order to capture their interest. If you’re already a working adult who is 15 or 20 years out from your last biology course, you’re really only going to take an interest in genetics to the extent that you can see its direct relevance to your life. For many people, that is now—and will increasingly be—the use of genetics and genomics in medicine. So a simple way to introduce people to the importance of inheritance for their health is talking to them about family history. That starts into another question I had: How do you get the layperson interested in genetics? I suppose that’s a different calculation than getting a high school student interested. You’re absolutely right, there’s very different thinking that goes into how you program education for those two audiences. For the school audience, obviously the curriculum and the teachers serve as our vehicles for delivering those messages, and those teachers have a pretty heavy stick that they can wield against the students: grades! But by and large what the teachers are teaching, in this era of No Child Left Behind, is the content relevant to the state assessments by which public schools are evaluated. That speaks to one of our efforts in the education policy realm: trying

to make sure that the standards being used to develop curriculum and assessments in the states represent the best thinking in genetics. And that has not always been the case, as a big research paper that we published a few years ago demonstrates. In fact, there are grave deficiencies in the comprehensiveness and particular contents being covered by many of the states in their state standards. ASHG is working to try and rectify those deficiencies. With regard to the public, we don’t have any “sticks.” It’s really the already-interested public that serves as the audience for not only ASHG’s messaging, but for the informal science groups, science museums and the like. It’s a perennial lament for many of us who think about these things that we usually end up preaching to the choir. It’s the people who already have an interest in science who take their kids to the science museum, and for ASHG, many of the people who write to us asking for additional information or who say that they have visited our site are people who are already interested in genetic testing or are coming to us as a function of necessity, having just spoken with a genetic counselor or having had a child with a genetic disorder. On the other hand, we are not actively promoting personal genetic testing just to get people interested and more knowledgeable about genetics—in fact, quite the contrary. We’re skeptical of the lay public’s ability to process the information. May-July 2013

In fact, we’re skeptical—with good reason, and some evidence—that the primary care physician community is going to be able to make sense of personal genetic tests. And they are going to be increasingly faced with patients who bring in a 23andMe report, for example, and say, “Doc, it looks like I’ve got an increased risk of hypertension. Can you explain these results?” While that can be a motivator for people to learn more about genetics, it’s not likely that it’s going to be easy for them to find credible resources presenting the content Volume 26 Number 2-3

in a format they can reasonably understand, or in a way that’s going to satisfy their needs. So we have some concern, in fact, about the proliferation of personal genetic testing and what implications it might have for health providers, as well as for the consumer-slash-patient. Do you mean specifically direct-toconsumer testing, or also, for example, whole genome sequencing done through a medical provider? I was referring to direct-to-consumer

genetic testing. The companies that offer the testing also offer—sometimes, at least—access to certified genetic counselors, but it’s not clear how much uptake there is by the consumers, so we don’t know how much information consumers are really getting, or the quality of their understanding. Within the context of formal medical service delivery, genetic tests are usually ordered with consultation by a genetic counselor, so there’s a much greater likelihood that those trained counselors will be able to GeneWatch 11

understand where the patients might have misconceptions about genetics. They have a great deal of experience in communicating that information and helping patients understand what test results mean, whether they are results of a diagnostic nature or results that are provided in a prenatal testing environment with the goal of helping prospective parents make decisions regarding pregnancy. Going forward—and it’s already starting to happen in a limited clinical setting—whole genome and whole exome sequencing will only magnify the educational challenges we face. One of the big issues is going to be simply our limited numbers of experts in medical genetics: the actual doctors that have a specialty in medical genetics, and understand the information that comes back from tests, and also the limited number of genetic counselors. To the extent that we are successful in integrating genetics into medicine—and I think everybody’s hopeful for what that’s going to mean, eventually, for improvement of health and diagnosis of disease—we’re simultaneously going to create a situation where there are simply not enough people with the expertise to talk to the patients to ensure that those patients really understand the whole of the information that they’re getting. That’s going to be a big educational challenge. Are there any especially pervasive or common misconceptions that you come across? Yes, we and others have done research on misconceptions that people have about genetics, and one of the most pervasive is simply genetic determinism. The average person really does treat genetics as something special. If there’s an indication in 12 GeneWatch

your genes that you might be predisposed to a disease, they have a very difficult time differentiating between “the gene causes this kind of condition” as opposed to “the gene predisposes this condition in a probabilistic way.” One of the more dramatic examples is BRCA 1 and BRCA 2 testing, which has obviously had a lot of recent press because of Angelina Jolie revealing that she had tested positive and decided to have a prophylactic mastectomy. People often don’t understand that sometimes you can have a gene with a mutation and not necessarily ever get the disease. In the case of BRCA 1 and 2 mutations, the

It’s a perennial lament for many of us who think about these things that we usually end up preaching to the choir. likelihood is much higher—there’s a lifetime likelihood of developing breast cancer in the 80% range, which means 20% with the mutation will not get breast cancer. But for many mutations in other genes, the “penetrance” is much lower, such that a majority of people who have the mutation never suffer the disease. That’s an issue that people have a very, very hard time understanding. There is also a general misconception about what genes are and how they differ from mutations. In

general, genes direct processes contributing to normal function and behavior; mutations in genes can, but do not always, disrupt function and behavior, which is what leads to disease. However, the disease is caused by the faulty genes, not normal ones. This is often perpetuated by the shorthand that scientists sometimes use and the media propagates. We routinely hear and see references to “genes for cancer” or “genes for autism,” when in fact there are no such genes. There are genes that produce proteins or RNAs that contribute to some sort of a normal phenotype that get disrupted when they have certain types of mutations. So that’s another aspect of the determinism misconception that really confounds peoples’ ability to understand genetics well. And that’s only going to get more difficult. It used to be, when we talked about genetics even just a half-dozen years ago, that we were talking about the genetics of Mendelian traits, single gene mutations which led with very high likelihood—in many cases with near certainty—to development of a genetic disorder. It was just a single gene that could produce that disorder. Now, with testing at a whole exome or whole genome level, or even just genotyping across many genes, we can identify lots and lots of risk alleles for complex traits—diabetes, hypertension, heart disease, cancer, schizophrenia—and all of these disorders are the result of mutations in many genes (along with environmental factors). So trying to parse the impact of any single gene mutation becomes extremely challenging. It’s challenging enough for the professionals who are doing the work; for the public, I think it can start to seem hopelessly complex. nnn

May-July 2013

Becoming Mr. Proficient: Junior High Genetics How do you get 8th graders interested in learning about genetics? It can be done, and it involves dance parties. By Vani Kilakkathi

For several years, international science test results have revealed a performance gap between U.S. students and their peers in other developed countries. According to the recent Trends in International Mathematics and Science Study (TIMSS), released in December 2012, this lag in science still persists today. The study found that students in South Korea and Singapore achieved the highest scores on the fourth grade science test,1 while students in Singapore and Taiwan led the rankings on the eighth grade science assessment.2 In comparison, U.S. students ranked 7th on the fourth grade science assessment and 10th on the eighth grade science assessment. Within the U.S., TIMMS also found disparities in the performance of different student groups. For example, “black and Hispanic students scored lower than the U.S. average . . . [and] students from schools with low poverty rates posted better average scores than students from high-poverty schools.”3 Sadly, these results mirror broader educational achievement trends in the U.S.4

Having spent two years as an eighth grade science teacher in the Newark Public Schools,5 these results were not at all surprising to me. Many students came into my classroom not knowing what a cell was, but at the end of the school year, they were all expected to describe the structure and purpose of the DNA within a cell on the state-administered science assessment. The results of these tests would influence my students’ placement in high school honors classes, which could, in turn, affect their college admissions and eventual career outcomes. But as much as I wanted my students to do well on these exams so that they could increase their academic and professional opportunities, I also knew that understanding genetics had more serious consequences. For example, research has suggested that science education, particularly in the area of genetics, can affect eventual health outcomes in those patients suffering from diseases with a genetic component.6 This makes intuitive sense: if someone misunderstands the basic mechanics of gene expression, she will not make

informed treatment decisions that are in her best interest, with possibly fatal consequences. Clearly, the educational stakes are much higher than they may initially seem. As teachers, we’re told to avoid reinventing the wheel and to instead replicate the best practices of other successful teachers. In this spirit, I’ve summarized a list of strategies that helped my students master the basics of genetics and allowed them to break the school’s previous records for achievement on the eighth grade science exam. These are listed below: • As much as possible, use visual or hands-on learning aids. Unlike topics such as earth science or astronomy, genetics can initially be difficult for students because they have a hard time visualizing the concepts they’re discussing in class. For example, before beginning my genetics unit, I anticipated that my students would have a difficult time conceptualizing nucleotide base pairing. I began the DNA structure lesson with a hands-on activity in which

Many students came into my classroom not knowing what a cell was, but at the end of the school year, they were all expected to describe the structure and purpose of the DNA within a cell on the state-administered science assessment. Volume 26 Number 2-3

GeneWatch 13

I gave each group a bag with four differently-colored and differently-shaped puzzle pieces. The red A’s would only fit together with the blue T’s, and similarly, the green C’s would only fit together with the yellow G’s. After passing out the puzzle pieces, I asked my students whether they noticed any patterns. They could all readily identify the A-T, C-G base pairing rules and were able to articulate the basic reasoning underlying these rules, namely that the structure of the individual pieces determined the complimentary base pair. This hands-on activity was a more effective and engaging means of presenting the information than a standard lecture. The base pairing activity also primed my students for later lessons about sequencing. For example, in a subsequent lesson, I had my students build DNA models using gummy candy, marshmallows, and toothpicks, which could be twisted to mimic the double-helix structure of the molecule. The students had to use the concept of base pairing to determine the sequence of a complimentary strand of DNA, and I used the same nucleotide color scheme from the previous base pairing lesson. This familiar color coding reminded the students of the concepts from the lesson about DNA structure and allowed them to consciously (and literally) build on this prior knowledge.

14 GeneWatch

Auditory learners. At the beginning of each class, I presented my students with a list of “Words to Know” for that day. We would practice saying these words together as a class—first while going over the “Words to Know” at the beginning of each lecture, and again when we encountered that word in the presentation slides for that lesson. This repetition helped my auditory learners process and retain these vocabulary words. Visual learners. For those students who learned best through visuals, I maintained a “Word Wall” in the back of my classroom. After presenting a particular vocabulary word, I would have students turn that word into a graphic by writing it on a large piece of paper and pairing it with a picture to quickly remind the reader of the word’s definition. For example, in the genetics unit, one student represented the word “dominant” with a heavyweight boxer knocking out an opponent with one punch; in contrast, “recessive” was a much smaller and weaker boxer who needed two punches to knock out his opponent. Over the course of a unit, as more and more vocabulary was covered, the Word Wall would increase in size; when we finished a unit, a new Word Wall would go up. The Word Wall was also an opportunity for students to teach

each other and take pride in doing so. Kinesthetic learners. Finally, I reinforced vocabulary through dance by coming up with a unique move for each word that we covered in class (often with the students’ help and input). For example, the dance move for “double helix” was the intertwining of the left and right May-July 2013

Image: S. W. Anderson

• Teaching genetics as a language. During my first year of teaching, one of my mentors told me that all teachers—even those that taught math and science—were teachers of literacy. Her advice made sense; decoding a piece of scientific text is largely a task of understanding

what the words mean. As a result, I began taking a literacy-based approach to lesson planning, and I focused my instruction on helping my students build their science vocabularies. I did this in several different ways to make sure I was reaching auditory, visual, and kinesthetic learners:

even choreograph whole dances for specific songs.

arms. For the kinesthetic learners, at least once each unit, I would put on music and have what I called “Science Dance Parties.” Students could dance to their hearts’ content – provided that they did only science dance moves and only while saying the name of the vocabulary word associated with each movement. Some particularly committed students would Volume 26 Number 2-3

• Take advantage of interdisciplinary teaching opportunities by highlighting the intersection of social forces, ethics, and genetics. Genetics presents a unique opportunity to tie together a number of different disciplines and have deeper conversations with students about social justice and equality. Each year, I had my students research a number of bioethical issues and debate them in front of the class. Topics included cloning, genetically modified food, and genetic discrimination. Many students were disturbed by these bioethical issues, and particularly the lack of attention given to them. I also included lessons about scientists in the field of genetics who came from underrepresented backgrounds, like Rosalind Franklin and George Washington Carver. Students were moved by the stories of these scientists, who often did not achieve recognition for their contributions to the field. In my classroom, we had frank conversations about why, even today, minorities and women are underrepresented in these areas of research. After these discussions about the merits of having a range of perspectives represented in the sciences, several students expressed an interest in pursuing scientific careers. I consistently applied these strategies during my two years in Newark, and the hard work paid off. Instead of providing statistics about my students’ achievement, I will end with a story (changing the name and some minor details to protect the privacy of the student). During my first year, I

worked closely with Kenny, who had one of the biggest, brightest smiles I’ve ever seen. Kenny struggled with reading and writing, but he loved the daily hands-on activities and the science dance parties, even coming up with several of the more popular dance moves. Kenny was one of my hardest-working students, staying after school several times a week for extra science tutoring. But after taking the state science test in April, he came to me dejected, shaking his head and saying “I can’t believe I worked so hard for nothing.” When the scores were released several months later, I flipped through them and held my breath when I got to Kenny’s results. After taking a deep breath, I called him (he’d started high school by then) and told him to stop by on his way home. We went up to my classroom and I handed him his scores. His smile was the biggest and brightest I’ve ever seen it when he read the word at the top: “Proficient.” After a few rounds of high fives (and a few celebratory science dance moves), Kenny decided to make his way home. On the way out, he bumped into an old teacher of his and showed her the score. “Kenny, I’m so proud of you!” she said, hugging him, to which he replied, “I’m sorry Miss G, but I’m not Kenny anymore – I’m Mr. Proficient.” Kenny’s story serves as an example of how adopting a strategic approach to science instruction can help any child, like Kenny, become a Mr. or Ms. Proficient. nnn Vani Kilakkathi is a Fellow of the Council for Responsible Genetics and a second year student at Harvard Law School.

GeneWatch 15

Teaching Social Justice in Science Because of myths and gaps in scientific education, scientists are often unprepared when confronted with an egregious misuse of science. By Morgan Thompson, Benjamin T. Morris and Jon Beckwith

16 GeneWatch

tower perspective in which the social impacts of their accomplishments are not their concern. Perhaps what they do not learn is even more important. They learn nothing of contemporary perspectives in the history and philosophy of science, which challenge the notion of objectivity. They learn nothing of examples from the history of science in which social biases have so contaminated scientific research as to lead to significant social harm. They know of none of the tragic examples of scientists’ work that was subsequently misused in socially or militarily oppressive ways. Because of the myths and gaps in scientific education, scientists are unprepared when confronted with a particularly egregious application or misuse of either their own science or that of others. Nor do they have a strong sense of responsibility for the problematic

uses of their own or others’ work that could cause social harm. The principles of being a scientist that students learn, either by omission or commission, lead to a group of scientists that historian of science Jennet Conant referred to as a “docile lot” in the face of destructive applications of science.1 An historical example of this docility is reflected in the attitude of Thomas Hunt Morgan who was arguably the leading researcher in genetics during the field’s infancy at the beginning of the 20th century. When confronted at that time with the growing social impact of the U.S. eugenics movement, much of it fueled by genetic arguments, Morgan abstained from public commentary for many years despite his disdain for the scientific arguments used in eugenics literature. In a private letter to May-July 2013

Image: S. W. Anderson

What is education like in the United States for college and graduate school students pursuing scientific careers? In many respects, it is a superb education that ensures a future workforce of scientists who can be imaginative, innovative and creative. Young scientists learn how to be both technically and theoretically critical of their own work and that of others. These aspects of their education and the massive amount of government funding for science are largely responsible for the major role U.S. scientists have played in scientific advances in the last 50 years or so. However, there are aspects of what prospective researchers learn that prevent them from becoming the whole scientists that society needs. They learn that science is an objective pursuit, uncontaminated by social influences. They learn an ivory

Charles Davenport, Morgan stated, “I have no desire to make any fuss.” By the time Morgan did decide to speak out, the eugenics movement had accomplished most of its goals.2 These concerns about the education of scientists lead us to recommend that students be exposed to the work of historians, philosophers, ethicists, sociologists, and the relatively few practicing scientists who have been active in dealing with societal implications of science. While these topics are currently largely absent from scientists’ formal education, our experience suggests that many science students actively seek out and enjoy opportunities for this training when they are made available. One of us has taught a course to trainees in science that embodies our recommendation and was initiated at the prompting of two graduate students who recruited faculty support and guidance to make the course a reality. The “Social Issues in Biology” course has been offered annually since the mid-1980s at Harvard University. The format is a small reading and discussion-based seminar with a maximum of twenty undergraduate and graduate students. Topics include history and philosophy of science, evolution versus creationism, genetics and race, women and science, genetic testing, journalism and communication of science to the public, genetics and criminality, science in wartime, scientist-activists and social responsibility. Popular with students, the course has resulted in multiple teaching awards for its lead faculty member, Dr. Jon Beckwith. This spring, the course began a more explicit, imbedded dialog about communication of science Volume 26 Number 2-3

through the arts, by allowing students to participate in the genesis of a collaborative, multimedia, devised theater production, called “The Edge of the Map.” Calla Videt, a professional writer and director of the Sightline theater company in New York, was recruited to develop the experimental theater production with the input of course students and faculty. Virtual planning began in the fall and culminated in a five-week spring residency during which time Videt and a teaching assistant led the students in art-making activities to produce written text, video or audio recordings, drawing, painting, photography, etc. These materials were then publicly exhibited in conjunction with the final production. Students also participated in interactive rehearsals. The result of this process was that “The Edge of the Map” focused on genetics via interweaving four stories that tackled questions about what genetics can and cannot tell us about identity using present day and near-future innovations in genetic testing and engineering. The course and performance also incorporated a social media Twitter campaign to engage audiences before and after the performance with important questions about the social implications of science. It is our belief that courses incorporating substantial interdisciplinary learning—such as the model we describe here—are essential to the cultivation of socially conscious scientists who are capable of navigating the complexity of interplay between science and society. The depth of consciousness-raising that we hope to achieve extends beyond the ethics workshops that are mandated for graduate students and postdoctoral fellowships at institutions

with government-funded biomedical research, which can vary greatly in quality. The recent efforts of the National Institutes of Health Office of Research Integrity to expand the scope of Responsible Conduct of Research teaching to include discussions of “the scientist as a responsible member of society, contemporary ethical issues in biomedical research, and the environmental and societal impacts of research” are an improvement.3 However, as scientist activists we feel that a more explicit commitment to teaching science and social justice is needed now. To reach more people with this perspective, a new collaboration called the Science and Social Justice Project has been initiated by a joint effort of faculty at the Arcus Center for Social Justice Leadership at Kalamazoo College and at Harvard Medical School. Together, we are building a web resource that will include a repository of course curricula and activities related to science and social justice and will gather a community of activist scholars with the goal of making this training an explicit part of higher education science teaching and research. nnn Morgan Thompson recently completed her PhD at Harvard University and is currently Project Manager of the Science and Social Justice Project. Benjamin T. Morris is a PhD candidate in Biological and Biomedical Sciences and teaching assistant at Harvard University and was producer of “The Edge of the Map.” Jon Beckwith is a Professor Emeritus of Microbiology and Immunobiology at Harvard Medical School and a member of the Genetics and Society Working Group.

GeneWatch 17

Changing the Subject: Educating Research Participants What do you need to know before agreeing to share your genome with the world? Interview with George Church

George Church, PhD, is Professor of Genetics at Harvard Medical School, Director of the Center for Computational Genetics, and founder of the Personal Genome Project. The Personal Genome Project has collected genomic information and health records from over 1,000 informed participants, all shared openly with the research community and the general public. GeneWatch: The Personal Genome Project requires that all participants are “informed.” What does informed participation mean in this setting? What does a participant need to know before becoming involved in medical genetic research, particularly when their information may become public? George Church: In principle, all medical research has the participant sign a consent form. In practice, many—if not most—principal investigators acknowledge that they don’t feel the participants have read it or understood it, which we didn’t feel was a good idea. So we have an entrance exam, 20 questions, and participants have to get 100%. The exam covers what would be in the consent form, maybe a little more elaborate than a consent form but a little easier to read. Consent forms tend to be written in legal language to protect the institution, so our exam precedes that with a very readable 18 GeneWatch

set of scenarios. For example, it asks: What if one of your relatives doesn’t like that you are participating in this study? Have you checked with them? What if you learn that you have something incurable, or not actionable?

in a medical genetic study. And the fact is that we only need a small fraction of the population to participate in medical research—there’s no reason to be coercing people into signing a form that they don’t understand.

Does each of these questions have a “correct” answer?

Do you find that there’s usefulness in participants having a preliminary understanding of how DNA works going into this kind of study?

There are answers that would indicate that this particular study isn’t a good one for the individual to participate in. We’re not providing health care, we’re doing research. For example, if you’re under 21 years old, you shouldn’t participate in this study. If you have dementia and you can’t finish the exam, you shouldn’t participate in this study. If you really don’t want any of your information to be public, there is a chance of being reidentified in any medical study that’s public, and you need to consider that. So there’s a long list of potential complications for someone participating

As a research participant, it’s more important to have curiosity than to have all the answers.

I’m sure it’s more helpful in some studies than others. I think in general, as a research participant, it’s more important to have curiosity than to have all the answers. Knowing the difference between recessive and dominant or knowing how many base pairs are in your genome may not be crucial for deciding whether you’re ready to participate in research on medical genetics. It is crucial that you have thought through the likelihood of your information becoming public. Many studies either waffle or disingenuously promise that they will do their best to keep your information private, which gives you sort of a warm fuzzy feeling that it will stay private. We felt it was more forthright to say, “Look, if we say it’s going to stay private, even on a secure computer system, there is still a very good chance that it could become public and even re-identified.” Things like that, I think, tend to be more important in the decision making process for a potential participant May-July 2013

than whether you know how many chromosomes there are. And I think it’s very important to do this education upfront. A lot of studies say “we’ll educate them later, if they need it,” but at that point it’s too late. Then you have to say: “Hey, we found something really bad in your genome, do you want to hear about it?” At that point, they’re hosed either way, right? Either they say they don’t want to hear it and they potentially worry about it for the rest of their life, or they do hear it and they potentially worry about it for the rest of their life. What’s better is to tell them up front, walk them through the scenarios, and ask specifically: “What if we found you have a high likelihood of getting Huntington’s disease? Would you like to know about it?” They might say “no, that would worry me sick for the rest of my life.” And you might have to say Volume 26 Number 2-3

that this probably isn’t the study for them. Now, some studies address this by just saying they’re not going to return any results to the individual. That’s probably bad practice on two counts. Number one, it’s naïve to think that you can keep the data private; but more importantly, if you do find something that could save someone’s life, it doesn’t seem morally defensible to withhold that information. But you can’t wait until you’ve found something to give them the choice of whether or not to hear it. You have to find that out upfront. You mentioned the idea that it’s naïve to think that you can definitely keep the data private. I take it that’s something that comes across in the education for PGP participants? Oh, it comes across loud and clear.

But it doesn’t come across so clearly in most other studies, because they’re concerned that they won’t get participants if they don’t fib a little bit and assure people that their information isn’t going to get out, and that if it does get out there’s no way it could be re-identified. They won’t say “there’s no way it can happen,” they’ll say “we will try our best” or “it’s very unlikely,” but the end result is that they give the would-be participant a very strong impression that their information can be kept private. And for some people the consequences of having it public when they’ve been promised that it would be kept private is worse than just having it known upfront that the information could become public. The problem is that the participant is being lied to, whether it’s inadvertent or intentional. nnn GeneWatch 19

Genomic Tools for Clinicians Advances in medical genomics will translate into health benefits much faster if clinicians have a way to keep up with them. By Sara Riordan, Bedir Shather, Elissa Levin, and Paul R. Billings Since the completion of the Human Genome Project in 2003, genomic technologies have advanced at an astounding rate, even eclipsing the pace of the biennial doubling of computer processing power described by Moore’s law. While DNA analysis and genetic testing were for decades reserved for those who were thought to have or be at risk for a rare inherited disease, increasingly faster and cheaper DNA sequencing technologies have made it possible for genomic tests to become available to a broader patient population. Couples planning a pregnancy can receive carrier testing for hundreds of diseases with a single test. People with cancer can have their tumor’s unique genomic signature analyzed, providing their oncologists with valuable information about the aggressiveness of their cancer and treatments that might be more effective. And individuals with an unexplained constellation of symptoms can have their whole genome or exome (the 1-2% of the genome that provides the instructions for making all the proteins in the body) sequenced, with the goal of ending the diagnostic odyssey and finally arriving at the cause, and possibly the cure, for their disease. While the value to groups and populations of genetic and genomic tests has generally not been studied, the benefits derived by individual families is well documented. The increasing availability of clinical genomic testing has the potential to introduce a paradigm shift in 20 GeneWatch

clinical practice – from a one-sizefits all approach to one that is truly personalized based on each individual’s unique biology. However, there are substantial hurdles that need to be overcome before genomics can be integrated into routine clinical care. With the vast and ever-evolving array of genomic test offerings being marketed to consumers and health care providers, clinicians can be overwhelmed and unsure of which test to recommend for a patient. Furthermore, genomic tests can generate a tremendous amount of data. A single exome sequence can produce tens of gigabytes of output, often requiring a separate hard drive or significant cloud-based storage. Sorting through the data and prioritizing clinically relevant information are daunting tasks for any bioinformatician, and can seem downright impossible to the clinician. Finally, much of what is encoded by the genome is not well understood, and the clinical consequences of most variations in the genome are unknown. Concern about what to tell patients when a “variant of unknown significance” is encountered remains a significant challenge for clinicians. Physicians have expressed concern about their own knowledge gaps in genomics and the guidelines for its use, prompting calls for more education and training to facilitate the effective integration of genomics into clinical practice.1,2 In response, several medical schools and other graduate programs for health

professionals have begun incorporating more genomics education into their curricula. However, these efforts do not address the need of keeping health care providers up to date with rapid advancements in technology and our understanding of the genome. Clinicians require practical, point-of-care resources and tools to provide accessible opportunities for genomics education and knowledge, and promote more confidence in the use of genomic technologies and tests. Indeed, focus groups have indicated that the majority of physicians would incorporate genomics into their practice if they had access to the necessary knowledge and tools.3 To bridge this gap, we encourage the following strategies: Increase the amount of continuing education opportunities in genomics In a field in which knowledge and technologies are constantly evolving, continuing education opportunities are an effective way to expose physicians and other health care providers to current, evidence-based knowledge from experts in the clinical applications of genomic technologies. While a classic format for offering continuing education is the in-person professional conference, web-based and electronic mediums May-July 2013

offer more flexibility at a lower cost. Webinars and multimedia courses, whether live or self-paced, accommodate busy clinic schedules and can be participated in by desktop or mobile device. There is evidence that such focused education opportunities can change the way providers view genomic technologies: primary care providers who were exposed to an interactive workshop and a series of PowerPoint educational modules demonstrated improved knowledge and increased confidence when undertaking genetic risk assessment or recommending genomic tests.4 Widespread uptake of continuing education opportunities by health care providers should be encouraged by offering continuing medical education (CME) or other education credits for completion of the course or conference. Utilize the expertise of genetic counselors The traditional view of a genetic counselor is an individual who helps to translate complex genomic information to a patient, analyzing the patient’s family history and discussing various genetic testing options. However, genetic counselors are also excellent expert resources for physicians and other health care providers. Genetic counselors provide, either at the point of care or in follow-up consultation, adjunct educational information, vetted resources, and clinical decision-making guidance. Many genetic counselors also teach courses and provide lectures for health care providers in academic and continuing education settings. With a battery of genomic testing options available, and a host of different clinical guidelines, studies have demonstrated that physicians may not correctly refer for genetic testing, and that this may be due to lack of appropriate training and education Volume 26 Number 2-3

in genomics.5,6 However, utilizing the expertise of genetic counselors can inform appropriate genomic test ordering and consequently result in a savings of health care dollars.7 Thus, genetic counselors can serve as a critical, readily available resource for physicians and other health care providers. The National Society of Genetic Counselors maintains a searchable database of genetic counselors in all practice areas on its Web site ( Develop innovative point-of-care tools for clinicians The complexity and rapid pace of genomic technologies, and the vast amounts of data generated from whole genome or exome sequencing, require innovative tools to aid clinicians in offering and interpreting genomic tests at the point of care. Clinical decision tools that integrate a patient’s family/medical history with established clinical guidelines, and interface with a menu of available genomic tests, can guide clinicians in appropriate test ordering. Mobile device applications that are searchable by patient symptoms, family history, gene, and disease can aid in the differential diagnosis. Tools that interpret the tremendous amount of data produced by whole genome/exome sequencing, filter the data according to a patient’s symptoms or family history, and provide clinically useful reports are necessary in order for physicians to incorporate this type of testing into their practice. Finally, innovative methods for genomic data storage that securely allow clinicians to access a patient’s data through an electronic medical record, ensuring a uniform ontology, are key to allowing a patient’s genomic data to be used as a valuable resource over the course of a patient’s lifecycle.

Informed, empowered patients actively participating in their care improves quality and reduces unnecessary and unwanted clinical efforts. By improving the public’s knowledge of genomics and its clinical uses in our school systems and emphasizing the role of patient education and consent in care settings, the optimal use of family history information and testing results will be hastened in rapidly evolving clinical settings. Genomic technologies offer great promise in achieving a truly personalized approach to disease prevention, diagnosis, and treatment. However, such promise cannot be realized without arming clinicians with the appropriate knowledge, tools and resources. A variety of academic and government efforts are underway to offer more formalized genomics education and training opportunities for health professionals, but there also must be investment in knowledge sources that can be utilized at the point of care. If genomics is to be successfully integrated into mainstream clinical practice, the immediate demand for state-of-the-art, widely accessible genomics tools and resources needs to be met with speed and innovation. nnn Sara Riordan, M.S., CGC is a boardcertified genetic counselor and Senior Genomic Service Specialist at Life Technologies, Corp. Bedir Shather, MBChB (MD), BSc , is a physician and medical consultant at Life Technologies. Elissa Levin, M.S., CGC is a board-certified genetic counselor and Director of Clinical Support Services at Life Technologies. Paul Billings, MD, PhD, is Vice Chair of the Board of Directors of the Council for Responsible Genetics and Chief Medical Officer of Life Technologies. This article represents the authors’ own views rather than those of Life Technologies.

Enhance patient-driven care GeneWatch 21

The Genomics Education Imperative Understanding the basis of genetic disease and their treatments is becoming more and more essential for both clinicians and patients. By Douglas L. Brutlag The impact of genomics on health care Since the determination of the sequence of the human genome, there have been numerous implications for patient health care. Most notable among them are new and more accurate diagnostic tests for inherited diseases, determination of the best drugs with the least side effects for patients, early detection of inherited diseases based on non-invasive prenatal maternal blood tests, prenatal genetic selection to avoid passing on debilitating or lethal inherited diseases and even estimations of a person’s risk for complex diseases that have both genetic and environmental causes. In addition to these patient-specific impacts, genomics has provided many novel drug targets for the pharmaceutical industry and discovery of genes and mutations in them that directly cause disease, leading to new diagnostic possibilities. Genomics has had and will continue to have a major impact on patients’ healthcare, physicians’ practice, drug discovery and basic scientists hoping to understand and cure inherited diseases. Because the field is developing so rapidly, with new diseases, diagnostics and drugs being discovered daily, it is essential that patients and physicians be educated on the importance of these results for healthcare. It also requires more medical students to specialize in medical genetics and a larger number of people to be trained in genetic counseling to advise patients about genetic diagnoses and how to help them interpret 22 GeneWatch

the meaning of the results to improve their healthcare. Genomics as the basis of preventive medicine The most important aspect of genomics is that it forms the basis for preventive medicine for inherited disease. Just as vaccines have had a major impact on preventing infectious disease, genomics has the potential to permit the prevention of inherited diseases. As Louis Pasteur, the discoverer of man-made vaccines and the godfather of preventive medicine said, “When I think about a disease, I never think about how to cure it, but instead I think about how to prevent it.” Prevention of an infectious disease requires knowledge of the causative agent (usually a virus or bacteria) and the development of a vaccine against it. Prevention of an inherited disease requires identification of the genes and mutations causing the disease and followed by either a treatment or drug targeting these genes. The study of the genetics of patients, families and populations afflicted with an inherited disease reveals the nature of the genes and their mutations that cause the disease. With these genes and mutations in hand, we immediately have a good diagnostic tool for detecting and characterizing the disease, and these discoveries direct further research that will lead to novel treatments, interventions and drugs that specifically attack the cause. When attempting to prevent a disease, one must first know the cause and then develop appropriate

treatment just as Pasteur did for infectious diseases. Most often, our treatment of disease is targeted at ameliorating the symptoms rather than attacking the cause. When one tries to treat the symptoms instead of the cause, one often exacerbates the disease itself, which continues unabated. Since the basis of many inherited diseases is contained in our genetic information, some of these diseases can best be treated genetically via either gene therapies or via stem cell approaches. Complex diseases (those that have both a genetic and an environmental cause) can be treated by changing the environment or the behavior of the patient. The best description of the importance of preventive medicine I have read was written in the first Chinese Medical Textbook in 2600 BC: “Superior doctors prevent the disease, mediocre doctors treat the disease before it is evident to the patient and inferior doctors treat the full blown disease.” Our current healthcare system does not care for the healthy, but instead treats the ill. Maybe it should be renamed our illness care system rather than healthcare system. We need to develop policies and incentives to keep patients out of the hospital and out of doctor’s offices. We know that preventive medicine can greatly reduce the cost of healthcare. It has been determined that every dollar spent on prevention saves ten dollars in treatment. An unfortunate corollary to this is that there is more of a market for treating the ill rather than preventing illness. Treatments bring more profits than May-July 2013

prevention; drugs bring more profits than vaccines. Genomics has the potential to develop diagnostics that can inform a patient of their risks as well as new treatments and interventions that can attack the cause of their disease, including drugs, gene therapies and stem cell approaches. Personalized medicine Another major impact of genomics is that it permits a highly personalized form of healthcare. For example a simple genetic test can tell you how you will react to different drugs, what an appropriate dose is for you and whether you are likely to have adverse reactions to them. The FDA currently requires 107 different drugs be labeled if a genetic test is either required or recommended prior to prescribing them. This area is called pharmacogenomics and is one of the most useful areas of the application of genomic information. Similarly your genomic information can not only tell if you are a carrier of a highly penetrant mutation for a Mendelian disease, but what your risk is for more complex diseases which may only have a 25 to 50% genetic component. These risk estimations are most important because changing the environment or behavior can reduce the risk indicated by ones genetics. It can increase one’s vigilance and often suggest additional follow up clinical tests to see if such a complex disease is progressing or not. Sir William Osler, considered the father of modern medicine, said in 1892: “If it were not for the great variability among individuals, medicine might well be a science, not an art.” Personalized medicine based on genomic tests holds the promise of making medicine a true science. More importantly it shows how Volume 26 Number 2-3

irrelevant anecdotal information should be to patients. Just because a drug works on your neighbor’s afflictions, does not have any relevance to how the drug will work on you. Only your genetic background can inform you of the best treatment. The goal of personalized medicine, according to the FDA, is to give the right drug to the right patient at the right time.

Genomic education is an ongoing process

Many of the concepts discussed above, (inherited diseases, Mendelian diseases, complex diseases, genetic tests, pharmacogenomics, risk estimation) are not commonly understood and most often misunderstood. There is a very important need for books, courses, tutorials, websites, videos and journal articles to explain these concepts to the public. The field is moving so quickly that one cannot keep up without understanding the underlying concepts. As more and more diseases can be diagnosed and treated based on genetic tests, understanding the basis of genetic disease and their treatments will be more and more essential for both clinicians and patients. It is also critically important to not only train medical students in the same area, but also to provide continuing education opportunities for existing physicians so that they can interpret genetic results just as they would any other clinical test. They must know what each test can tell you about a disease, when it is appropriate to order such a test and finally what clinical follow-ups should be done to confirm the genetic results. I have been teaching premedical students a course in Genomics and Medicine for the past 12 years, and our medical school has been training all its students in genomics and personalized medicine for the past four years. More recently I have also taught a Stanford Continuing Education course entitled “Your Genes and Your Health” for the public. Both my courses are freely available online where one can download videos and slides of the lectures and watch them on your own computer. nnn

Finally, it is also increasingly important that both physicians and the public be made aware of the progress and limitations of genetic testing.

Douglas L. Brutlag, PhD, is Professor Emeritus (by courtesy) of Biochemistry and Medicine, Stanford University School of Medicine.

Adverse reactions to genetic tests While there are many positive aspects of genomic and genetic tests described above, there are some adverse reactions to such testing that are equally important as well. This is particularly true for inherited diseases which have no cure and which are invariably fatal such as Huntington’s disease. Genetic testing has been shown to give rise to adverse reactions such as suicide, attempted suicide, depression, divorce, isolation and other behavioral disorders as often as 26% of the patients. Less penetrant genes such as BRCA1 and BRCA2 that can lead to an 80% life time risk of a series of different cancers. It is important that a patient meet with a genetic counselor prior to undertaking any such test so as to maximize the usefulness of the tests to the patient. It is critical to determine what the patient’s reaction to both a negative and a positive finding will be so that the path forward is clear to both the physician and the patient. The increasing use of genetic tests in healthcare will require a very large increase in the number of highly trained genetic counselors.

GeneWatch 23

Defying Determinism with Healthy Living Genetics may load the gun, but a healthy lifestyle can foil the factors that would pull the trigger. By Martha Herbert

24 GeneWatch

counselors that there might be more things shaping this child’s performance than just her primary genetic diagnosis? Why didn’t they look for other avenues to maximize this child’s creative, expressive potential? This story is for me a parable of how a belief in genetic determinism puts a filter on a clinician’s perspectives - or if the patient or family also believes this determinism, on their

aspirations as well. Many people talk about a twohit model: genetics creates risk and environment pulls the trigger. My colleague Robert Hendren at UCSF talks about a third hit: the belief that it is hopeless, which blinds people to things they can do. So much of what can be done is not that complicated - it involves “lifestyle changes.” Through modifying diet, exercise, sleep and exposure to toxins, many of the most common and severe chronic diseases can be prevented or at least greatly reduced in severity. This includes obesity, diabetes, heart disease, cancer and neurodegenerative diseases like Alzheimers and Parkinsons. It also includes childhood conditions like asthma, ADHD, allergies and maybe even autism and autoimmune diseases. A guest editorial last September in the New England Journal of Medicine noted that much of the $750 billion we spend on diabetes alone could be prevented by just such lifestyle changes.1 And yet we are not doing that. Why not? The NEJM editorial focused on bureaucratic obstacles to reimbursement of the care and coaching that would be required. Other obstacles include the barrage of advertising for the very products that

May-July 2013

Images: S. W. Anderson

A little girl whom I wrote up in my book The Autism Revolution was diagnosed with the idic 15 mutation. Because this mutation is associated with autism, her geneticist told her family that her current set of limitations were what they could expect she would live with her whole lifetime. These limitations included inability to talk, lack of social relatedness and chronic diarrhea. The family took her with reluctance and skepticism to another doctor, a primary care pediatrician with an integrative-wellness orientation, who looked for other potential contributors and found vulnerability to celiac disease. After four months off gluten the child started to babble and the diarrhea went away. The child’s mother was impressed and opened her mind to investigating further ways of amplifying her child’s improvements. A number of later food and gastrointestinal-based orientations, as well as a transient course of steroids to treat a medical problem, opened the child’s verbal capacities further to the point where rather than simply repeating what others were saying she engaged in rich, ongoing, spontaneous reflections on what was going on around her. Why didn’t it occur to the geneticists and the genetics

make us sick, the cuts in income that the health care industry and sectors of agribusiness would take if people were healthier, and the fact that research on lifestyle changes is less “sexy” than genetics and molecular biology. Systems biology is eroding the foundations of genetic determinism because it is showing the complicated webs of mutual influence across many scales of biology. It’s no longer a one-way bottom-up trip from genes to everything else. But old habits of thought die hard. Even seemingly advanced formulations of systemsbased personalized medicine may not go far enough. The “4P” approach to medicine - personalized, predictive, preventive, participatory - still rests largely on genetic testing, and falls very short in relation to looking at physiology - at metabolism, immune function, biochemistry, nutrition, and noxious toxicant, radiation and infectious exposures. Other approaches, such as functional medicine, are not so shortsighted. They look to genetics to identify vulnerability, and look to environment for ways this vulnerability can be shored up. The partnership of the Institute for Functional Medicine and the Personalized Lifestyle Medicine Institute is aimed at educating both health care professionals and the general public to expand their frameworks and to be proactive.

Volume 26 Number 2-3

How might a proactive lifestyle approach to genetics work? By aiming to optimize patterns of gene expression, metabolism and physiology. Healthy lifestyle improves gene expression. Biochemistry can also be influenced by lifestyle choices: An enzyme that is slowed down due to a genetic variant can often be supported by nutritional cofactors of the enzyme to speed up the chemical reaction. The impact of toxic exposures can be reduced by maintaining biochemical and metabolic resiliency. An anti-inflammatory diet reduces the cellular breakdown that leads to chronic disease and cancer. The buildup of science to support such approaches is making it ever harder to dismiss them as quackery. The failure of so many pharmaceuticals designed to modify molecular targets is further support for a backto-basics preventive approach to healthcare. Lifestyle changes are more than personal choices. The food policies in the United States would not presently support the population if everyone were to change to a healthier diet overnight. We need to change at the larger as well as at the local scale. Systems biology points toward a “middle-out” approach where physiology gets input from genes and environment but basically runs the show. Take calcium channels for example. They play many critical roles

in maintaining all manner of cellular functions. They can be altered by genetics or injured by environment. We can’t get rid of mutations we may already have that hamper the function of our calcium channels. But we can avoid the pesticides, the electromagnetic fields and the many other toxic exposures that can make the situation worse. And we can minimize the impact of mutations by keeping our cells and membranes healthy through a diet rich in antioxidants, healthy fats, vitamins and minerals. Genes provide information but so does the environment. Genetic education will most effectively protect personal and public health when it teaches us about the interplay and how to make life all it can be through healthy and ecologically sound personal and public choices. nnn

Martha Herbert, MD, PhD, is a pediatric neurologist and neuroscientist at the Massachusetts General Hospital, Harvard Medical School, where she directs the multidisciplinary TRANSCEND Research Program. She is a former CRG Board member and author of The Autism Revolution: Whole Body Strategies for Making Life All It Can Be.

GeneWatch 25

“Why Do I Need to Know This Stuff?” Teaching young adults about personal genetics is not only important in its own right—it can also be a way to get them invested in learning about the science of genetics. By Ann Zeeh

Every spring, I teach genetics to undergraduate students, many of whom will be the healthcare professionals and science researchers of the future. Many of these students will also experience in their lives some sort of event where they will be asked to consider their own genetic background or that of a family member. Having taught genetics for 24 years, I have seen many new ideas and a great deal of new information emerge to revolutionize our understanding of how genes work to govern all the processes going on in living things. Post-Human Genome Project researchers over the past 10 to 15 years, in particular, have generated an impressive amount of information connecting human gene function to health and disease, with new information emerging daily, spawning a new sub-field of genetics, designated personal genetics. Such health information must not remain in textbooks and journals but must make it to the application stage, for all the hours and dollars spent to be worth the effort. While certainly today’s healthcare workers must be trained in the applications of personal genetics now available, the upcoming generations of doctors and researchers will have the greatest stake in bringing personal genetics to fruition for the general public.1 The students sitting in our science classrooms must hear about personal genetics, and the earlier the better. Such education may allow this branch of modern medicine to become a natural extension of 26 GeneWatch

our healthcare practice, just another component of preventative medicine, in line with vaccines and yearly check-ups. With a popular celebrity like Angelina Jolie recently announcing her decision to undergo a preventative double mastectomy following a genetic evaluation of her BRCA1 and 2 gene status, and the Supreme Court

of the United States considering the legality of gene patenting, the phrase “genetic testing” has become commonplace in the news. Our children read about genetic testing for disease and in forensics as early as in their middle school science books. Doctors may advise patients and their family members about the possibility of genetic testing for disease diagnosis or prediction. Television shows depict genetic testing scenarios ranging from paternity cases to complex crime scene investigations. But the reality is, although the technology is

equivalent to a pop culture phenomenon, our students (and their families) are not prepared for the incorporation of DNA technologies into their own everyday lives. We must ask, when is the best time for strong lessons in genetics and 21st century genetic technology to be incorporated into science curricula? Training today’s youth in the fields of science, technology, engineering, and mathematics is a national priority, with the hopes of inspiring innovation and creativity in our future leaders. With the support of 26 states, a completed Next Generation Science Standards document was released earlier this year, detailing a 21st century framework of demanding, but well-tested, educational standards for K-12 students covering all major areas of science.2 For high school students, these standards recommend the teaching of the structure and function of DNA and the inheritance and variation of genes in individuals or families, as well as processes that lead to evolutionary events. While middle school students are taught the basic concepts of familial inheritance in classical transmission genetics discussions (think Mendelian genetics and questions like, “Can you roll your tongue?”), it is not until high school that students have the beginnings of the intellectual maturity needed to grasp the more challenging, not so easy to see, concepts of molecular genetics and the significance and power of DNA. Enter the idea of incorporating May-July 2013

personal genetics into a high school biology curriculum. In a recent conversation with one high school teacher of both Biology and Advanced Placement Biology, the teacher indicated that all levels of students are very interested in the material presented in the genetics unit. Quoting her: “In AP Biology, the genetics unit may be their favorite unit.” The problem lies in the large number of overall topics that must be covered in a year-long biology course. It is rare to be able to spend much time beyond the basics of each topic, for example, in consideration of the implications of the genetics in everyday life. This is extremely unfortunate. As our high school students explore the complexities of how the genetic material of an organism works to define that organism and acts as a dynamic entity to define the future of populations, seldom do they consider their very own DNA as a real diagnostic tool and predictor of their own futures. When asked to comment, one middle school principal and former science and technology department supervisor told me, “If students were able to think more about personal, practical applications of science topics, such as genetics, instead of considering science as an abstract, theoretical entity, science may become more interesting to them. Making science personal could be just the hook we need to engage more students in the study of science.” A discussion of personal genetics is one place to start. To ensure successful conversations with our current and future generations of students in personal genetics, or any area of applied science, we must be innovative in how we choose to accomplish the teaching of modern science and there are obstacles to be circumvented. First, Volume 26 Number 2-3

teachers must be prepared to teach the very latest in genetic technology. Teachers must have access to professional development opportunities on a regular basis to keep them upto-date on current science research applications and technologies. In the area of genetics, information changes quickly and professional development programs must be able to both keep up and address the needs of a wide teacher audience – young teachers just out of science education programs to more established teachers who may have last formally studied science 20 or 30 years ago. Furthermore, we should truly engage our young people, answering for

them the question: “Why do I need to know this stuff?” One solution may be to routinely prioritize time for a discussion of not just the science of genetics but the social, ethical, and even legal issues that accompany applications of a modern science such as personal genetics. Engaging young people in critical and analytical thought processes early in their adult lives is essential to their future success in college and beyond. As with most worthwhile endeavors, re-vamping early genetics

instruction to make it more personal will take considerable effort. Teachers must be afforded time and resources to keep up-to-date with technologies and time in the classroom to intersperse ethical discussions and debates into an already packed science curriculum. Students require time on their own to just think about the real implications of what they are learning. Some high schools are making progress in the right direction with the development of discussion-based bioethics courses. Science research programs are also helpful, where interested high school students are matched with practicing researchers who act as hosts and mentors to the students as they complete independent projects during the school year or in the summer. Unfortunately, because of limited availability, neither bioethics courses nor science research programs are accessible to all students. If we could also work to increase professional development offerings for our teachers and encourage self-reflection in our students, we would be offering a better overall genetics education to more of our young citizens, training them to make good personal choices for themselves and their families well into the 21st century. nnn Ann Zeeh, PhD, is Associate Professor of Biology at The College of Saint Rose and Chair of the Department of Physical and Biological Sciences.

Acknowledgements – Many thanks to my science education colleagues, Linda Maier of the Emma Willard School in Troy, New York and Michael Klugman of Bethlehem Central Middle School in Delmar, New York for interesting discussions of the state of genetics education in our high schools today. GeneWatch 27

The Big Picture, for Young Minds At a high school focusing on health and science careers, genetics and bioethics lessons start early. By Stacey Wickware Every student in high school will undoubtedly encounter a biology class as a part of their required course of study and road to graduation. In this class, they will learn the basics about genetics in terms of where genes are found in our bodies, how genes influence our characteristics, and how babies inherit genes from their parents. But do we, as high school teachers, have a responsibility to add to the scientific instruction of theory and big concepts that encompass key terminology such as dominant and recessive genes, phenotypes and genotypes, and the rules associated with Mendelian inheritance? Specifically, should we challenge students to investigate the ethical issues associated with genetics and new technologies? At Dozier-Libbey Medical High School, the collective answer is a resounding “yes.” All students at Dozier-Libbey Medical High School, a pathway school with a health science career technical theme, take four years of health, science, and math. In addition, much of their course work in other subjects is integrated with various health themes. As freshmen, all students take biology, but this is no ordinary biology course. Students are challenged with rigorous projects that require them to put their scientific and technological knowledge to work by exploring the outcomes of genetic crosses. For example, they flip a coin to determine a series of traits for a dragon and then draw their dragon. They put their traits for some easily observable human characteristics that are coded for by only 28 GeneWatch

one gene on a model chromosome and then randomly combine those genes with a classmate to create a fictional child. Juniors in AP Biology perform simulations to track changes in the gene pool with various selective events. They also discuss selective breeding as a means to cause changes similar to natural section. And this is where we open up the can of worms as it applies to humans and the ethics associated with genetics. By the time the students are seniors, they will have encountered several health themes embedded into the entire curriculum. The freshmen year involves an in depth study of “self ” as students learn about nutrition, their own bodies, and of course, genetics. As sophomores, they learn what it means to be culturally competent in the health care field as they investigate the merits of both Western medicine and complementary and alternative medicine. In the junior year, students tackle medical terminology, as well as diving into the history of disease, the death and dying process, and taking part in a pregnancy and child care simulation. All of their work culminates in their senior year Medical Ethics course, the content of which serves as the hub for the integrated themes taught in their English, Physics, Government, and Economics courses. This integrated work demands that students go beyond the scientific realm of their genetics knowledge and challenges them to use that knowledge in several ethical decision making projects. The essential question that drives

the Medical Ethics course is one that relates to what it means to be “fit” in society and what happens when members of that society determine that a particular group is “unfit” for membership. As such, one of the first units involves medical ethics abuses and focuses on the eugenics movement. Here, students investigate issues surrounding eugenic control of reproduction, forced sterilization of the feebleminded or incarcerated, and unethical medical research on

those thought to be “unfit.” At every opportunity, students are asked to utilize their scientific knowledge of genetics and relate it to the ethical issues we are uncovering in an attempt to answer our essential question. Successive units require students to challenge themselves by identifying ethical considerations as they relate to fairness, justice, respect for persons, potential harms, and possible benefits. This is largely done by researching case studies and being on constant watch for information in the media that relates to the case May-July 2013

study topic and bioethics in general. In one unit in particular covering genetics and new technologies, students ponder who has control of our bodies. They research and discuss current and continuing issues, such as the stem cell debate, by deconstructing the documentary Lines that Divide. The film deals with such issues as miracle cures for diseases, harvesting select human life to save others, moral arguments over the utilization of embryos, and the possibilities of cloning. They also evaluate the documentary Cracking Your Genetic Code dealing with issues of protection and privacy of genetic data, ensuring effective public education about promises and limitations of personalized medicine, and the burden of knowing your own

genetic information. Students also learn about the dangers associated with gene therapy by studying the death of Jesse Gelsinger, the 17 year old teenager who in 1999 lost his life as a result of the experimental gene therapy he received for an inherited disorder (ornithine transcarbamylase deficiency or OTC). As a summative assignment, students engage in the research process after having read The Immortal Life of Henrietta Lacks in their English class. This research essay offers the students their choice Volume 26 Number 2-3

of several prompts, the content of which are all related to the ethical issues they have been learning in their Genetics and New Technology unit. Prompts include the subject of direct to consumer genetic testing and the issues of privacy, genetic discrimination, and a possible shift toward a “new eugenics.” Another prompt is related to privacy and contact tracing of donors of eggs or sperm. Perhaps one of the most engaging units in the Medical Ethics course is a 5-week long integrated project titled Project EDDIE, which stands for “Envision, Discover, Design, Invent, and Execute.” This might seem like a reach for the study of genetics, but when you consider that students are being asked who and/or what we are trying to “fix” and what it means to be “normal,” you can begin to see how the students’ knowledge of genetics will surely be challenged. This unit involves an in depth study of human enhancement and disability studies. Students explore disability, ableism, eugenics and transhumanism in the context of emerging human enhancement technologies. The unit’s essential question—”What does it mean to design better humans and do we want to?”—is looked at by focusing on the underlying questions related to what it means to be disabled, the meaning of normal, and who should determine what kind of people get to be born. At the heart of the project is the physics component where students actually invent a product for a person with a disability, designed to help that person continue an activity they are passionate about. In preparation for this, students screen the documentary Emmanuel’s Gift to investigate the American narrative surrounding how the disabled in third world countries are portrayed, as well as participate in discussions that highlight the disability rights movement, government and citizen

responsibility, and the examination of cultural values that in some ways become embedded in assistive technology. Case studies, articles related to reproductive rights, cultural understandings of “the body,” and texts like George Estreich’s The Shape of the Eye relating to children with Down’s Syndrome, are used to help students evaluate the impact of new technology on humans. Clearly, the staff at Dozier-Libbey Medical High School feels that high school age students are just the right group of people to expose to the ethical issues associated with the science of genetics. To be sure, high school graduates are charged with entering college with a skill set that includes being able to articulate their opinions, make difficult decisions, and be able to justify those decisions using scientific facts but also ethical considerations. What we are doing at Dozier-Libbey is giving students the necessary tools for their college and career toolbox, but more importantly, we are equipping them with the knowledge they will need in order to become productive citizens who will eventually be able to make informed decisions and in some cases, vote on legislation directly impacting their lives. Teenagers are precisely the right age for asking multitudes of questions. They naturally want to know “why.” Even if we do not have them in high school long enough to teach genetics curriculum at an in depth level to answer those questions as they do in college, we are certain they will be prepared and more interested when they do encounter these teachings. So, should we challenge high school students by having them engage in both scientific and ethics related curriculum? You bet. nnn Stacey Wickware teaches Medical Ethics and AP United States History at Dozier Libbey Medical High School in Antioch, California. GeneWatch 29

Bringing Science Out of the Clouds A region-specific approach to teaching ecology serves as a model for how to keep students engaged in complex science topics. By Yael Wyner and Rob DeSalle

Being responsible about genomics, genetics, climate change, stem cell research, conservation biology these are all difficult topics for even the specialist to grasp, not only scientifically but ethically. So when they are taught to elementary and secondary school students, the challenge is immense. How do we convey the excitement of research in these areas in a responsible and scientific manner? How do we also get through to the students that our research and use of advances in these areas have impacts on everything from our everyday lives to our future on this planet? While the overall subject of this issue of GeneWatch is genetics education, we thought it would be instructive to detail an approach that we developed for conservation biology and conservation genetics that has shown great promise in educating elementary and secondary level students. The approach is called Ecology Disrupted and is based on the famed ecologist and conservation biologist Aldo Leopold’s ideas about ecological and evolutionary processes. Ecology Disrupted hopes to take local environmental issues to the formal classroom setting by connecting students to the issues in an obvious and personal way. In so doing the approach engenders excitement and, more importantly, involvement of the student in the science and interpretation of the science. Accomplishing these objectives in the classroom gives the student a richer understanding of the topics in conservation biology and conservation 30 GeneWatch

genetics. The first layer of educating a student on a complex issue is to engage the student. If this layer is not accomplished first, the task of educating the subsequent layers is made more difficult. As museum scientists, we use the same approach with exhibitions. If an exhibit somehow touches a visitor in a personal and meaningful way, then the scientific content becomes much easier to teach in an informal setting. We suggest that formal education should be no different. Taking the additional step of linking day to day life to an ecological or genetic process, aids the student in discovering the hidden complexity of ecological processes around them and provides an excellent way of teaching the principles of the phenomenon such as ecology or conservation genetics. Another important layer of learning contributed by the Ecology Disrupted model is the use of “real” scientific data to make ecological connections. This has two functions. First, it directly connects the student to the researcher and gives the student an idea of who scientists are and what they do. This objective is important in that it brings the science out of the clouds and convinces the student that the inferences made in science are real and justifiable. In conservation biology and genetics, scientists

have collected data for decades that bear on specific subjects and these data can be easily presented to the student with a specific task for the student to manipulate the data, such as linear regression, or mapping, or even simply plotting data. Additionally, if the data presented to the stu-

dent are up to date, the student gets the sense that his or her own knowledge is up to date and cutting edge. This aspect of the Ecology Disrupted model goes a long way toward keeping students engaged and attentive to the lessons. An interesting example from ecology concerns Lyme Disease. In the Northeastern United States, late elementary and secondary students are well versed in the perils of Lyme disease. However, most students don’t understand the connection of the May-July 2013

disease to fragmented habitats and disrupted food webs. Placing Lyme disease in its ecological context helps students gain a deeper understanding of its causes and the related ecological principles. This approach allows for more detail to be taught to the student about habitats and food webs, some very basic subjects in modern ecology. One big challenge of the Ecology Disrupted model is that the case studies need to be tailored to the geographic area where it is being taught. While Lyme disease is of interest to kids in the Northeast United States, it might not be terribly interesting to kids in Florida. So the development of regional examples is important. However, because the ecology of the United States has been studied extensively with many data sets generated on hundreds of topics, the tailoring

of region-specific examples is not a problem. Two of our earliest examples show how regional specificity of topics can be easily achieved. We developed a classroom exercise on using genetics to understand the role of highways in Southern California and Nevada in disrupting bighorn sheep metapopulations. The second example concerns the impacts of salting of icy roads in the Mid-Atlantic states. Both of these studies are based on real data published in respected ecology and conservation journals. We hope that this excursion in conservation biology and ecology teaching has been informative for the more genetics-oriented audience of GeneWatch. From the Ecology Disrupted model and its initial application in NYC classrooms, we can suggest that teaching complex scientific topics such as ecology or genomics

is augmented when the connection to everyday life is made. The Ecology Disrupted approach helps students learn that no matter where they live, they are part of a system in which ecological processes and disruptions to these processes affect their daily lives. We also posit that involving the student with real data from upto-date publications is an important aspect of science education at the secondary and upper primary levels. nnn Yael Wyner, PhD, is Assistant Professor in the Department of Secondary Education/Biology at The City College of New York. Rob DeSalle, PhD, is a Curator and Professor at the American Museum of Natural History and The Sackler Institute for Comparative Genomics.

High School Bioethics A high school incorporates bioethics topics in science classes - and into social studies, and English, and art ‌ By Eran DeSilva High school students are inundated with information and new technology each day. They are savvy when it comes to the latest social media technology—they know how to snap chat, tweet, and instagram much more efficiently and effectively than I ever could. But are they equipped to use it all in a thoughtful and responsible manner? How about when it comes to the technology that can affect their health, their diet, their medicine, their body image, and their relationships? It is in this setting that human biotechnology is rapidly advancing, posing complicated social, cultural, and political questions—and these are the questions Volume 26 Number 2-3

that our high school graduates will need to answer in their lifetime. They may become the scientists, engineers or geneticists who work on new technology. Or they will be the patients, elected officials, or parents who are receiving, guiding or selecting human biotechnologies. As an educator, I want to engage students in conversations about bioethics so that they can be prepared to make good decisions personally and civically. I try to do so in a way that is engaging to them, so that they can see the relevance of bioethics to their own lives. At Notre Dame High School, we take an interdisciplinary approach to our curriculum where different

departments address topics through their respective perspectives. Even though I am a social studies teacher, I incorporate bioethics into my classes at the senior level. Before students come to my classes they have already studied the issues surrounding biotechnology through their science and English classes. Victoria Evashenk, the science department chair, creates and implements lessons about gene testing and gene therapy, exploring how these techniques are used, who should have access to them, who should make the decisions about their use, and how they should be regulated. She also has students complete a DNA fingerprinting lab and GeneWatch 31

learn how gene sequencing democratic nation that values is used. the individual? Students are As students learn genetasked to consider their own ics in science classes, they role in asking hard questions are examining the implicaand being an upstander who tions and questions that will participate in the ongoarise from these advanceing public dialogue about ments in the humanities to biotechnology. see how they extend outI have to admit that I feel side of a research lab. In my like I have just scratched the government class students surface of bioethics. As a study genetic engineering in social studies and fine arts two ways. First, during our teacher by training, engagstudy of the federal bureauing in scientific discussions is cracy, they are introduced to definitely a stretch and quite the case of Jesse Gelsinger, a daunting. But it is an importeenager who died in a 1999 Student illustration, part of an assignment for the author’s U.S. tant one that I feel passionate gene therapy clinical trial. Government class. Illustration: Whitney Do about because I know bioethThe goal is to grapple with ics is part of everyday life. The the tenuous relationship students and I are learning memoir by George Estreich who between a competitive market that together because the advancements shares his journey as a father who thrives on innovation and a demoare coming so rapidly. It is hard to has a daughter with Down syndrome. cratic government that must serve anticipate what the latest technology He connects his own life with the the public good and promote safety. will enable humans to do. My goal is history of eugenics and larger sociThe students are immediately drawn to equip the students with the critical etal attitudes towards the disabled in by the personal story of Jesse as thinking skills to navigate the ethical community. It serves as a good case they are in the same age range. They questions that advancements in biostudy to challenges the students to discover how the material we discuss technology and genetics will bring. I consider how the medical instituactually has an effect on this teenwant them to be able to evaluate the tion can shape social and individual ager’s life. information that they are given and attitudes and behaviors towards the This academic year, the students to help them make good decisions disabled. They also Skyped with the also looked at the social implications for themselves and for their comauthor and were able to ask questions of genetic engineering in our unit on munity. Moreover, I want to foster about the book and deepen their unelections and campaigns. In Novemtheir creativity and imagination so derstanding about the topic through ber California voters had to make a that they can be problem solvers and a personal conversation with Mr. Esdecision about Proposition 37, which visionaries. I hope my students cretreich. The unit ends with a focus on would require mandatory labeling for ate a thoughtful, just, local and global bioethics. The students read about genetically modified food. A group of community by being advocates encurrent events concerning emerging students researched the proposition gaged in complicated and exciting isbiotechnology like “designer babies.” and presented their information to sues that today’s technology brings. With their understanding from scithe class. This activity led students nnn ence and history classes, they are through the process on how to be now able to evaluate the social, poan informed voter and also discover Eran DeSilva teaches Social Studies litical and cultural ramifications this how science would impact everyday during the academic year and Art during has on our local and global commuchoices like what to have for dinner. the summer at Notre Dame High School nities. The students recognize the In Contemporary Social Issues in San Jose, California. social justice implications of parents bioethics is incorporated into the being able to genetically select traits Disability Justice unit. Students begin for their offspring. How will this by tracing the history of the disability technology challenge the disabled movement. They read the book The community’s place and value in our Shape of the Eye, a thought-provoking society? Is that equitable and fair in a 32 GeneWatch

May-July 2013

A Lesson in Race, Genes, and IQ A museum exhibit gets students to think critically about claims linking IQ scores to race. By Peter Taylor

“Some people suggest that race is coded in genes and genes determine IQ test scores. A slightly less simple but similar supposition is that differences among races are associated with differences in genes that people have, which, in turn, are associated with differences in IQ test scores. Yet everyone has a sense that such claims are controversial. What should you think about them?” With this introduction I kicked off an interactive presentation to high school students visiting the exhibit “Race: Are We So Different” at the Museum of Science in Boston in 2011. In preparing the talk I had been concerned that the efforts of many critics to counter claims that link race, genes, and IQ test scores were too easily discounted by people entertaining the hypothetical: “Suppose that one day advances in genetics show direct links…” So I wanted not to assert from a position of professorial authority that this or that scientist was wrong about the facts or interpretations. I sought instead to render simple direct relationships implausible and to provide angles of critical questioning that would help students respond to any new facts that might emerge in the future. In this spirit, the presentation started with the introduction above, announced the take-home lesson—”The world is not that simple”—then moved through the script reproduced below. I do not have data to show how successful I was, so let me suggest that readers evaluate the Volume 26 Number 2-3

educational approach for themselves by formulating their own answers at each step. At the end, see whether you have a clearer sense of why it is implausible that race, genes, and IQ test scores can be linked in any direct fashion. Two preliminaries: Firsly, “IQ test scores” is used where most commentators use the shorthand “IQ.” To avoid any connotation that the data concern intelligence, I wanted to remind students that the data are about scores on some test, no more than that. Secondly, a single schematic of the different data is used, but the actual data are not so different and support the conceptual points being made.1

The Lesson In this presentation, I want to get you to think like a scientist: Ask questions. Put forward explanations. Evaluate whether they fit the data. Debate alternatives. Start with these data:

(I won’t tell you yet what groups 1 and 2 are, but you would know if you were in them.) Notice that the average of Group 2 is quite a bit higher than that for Group 1. What would you make of these patterns if you were in Group 1? In Group 2? Also think about how your answer might be different if you know that you are near the bottom, middle or top of the group. First lesson: Individuals in groups differ from the group average and should not be treated as if the group average is what they are. Second lesson: Science is more than getting at causes. Already, you [in the audience responses] were talking about what you would do and what more you would want to know (e.g., is the IQ test biased towards Group 1?). So let me highlight the two interlinked questions that will run through the presentation: 1. What would you do on the basis of these patterns? (E.g., a community leader in Group 1 might push for better schools or get depressed because Group 2 will stay ahead.) 2. What more would you want to know about these patterns before you decided what to do? (E.g., an IQ researcher might work with a geneticist to look for genes that Group 2 have that Group 1 does not.) GeneWatch 33

Now imagine you are…. [Students looked at the card each had been given that assigned them to one of these roles: a community leader in Group 1, community leader in Group 2, teacher of children from both groups, government policy-maker, genetics researcher, or IQ researcher]. How would you react to these patterns in IQ test scores—specifically, how would you answer questions 1 or 2 above? What would you do on the basis of these patterns: We already have some examples from a Group 1 community leader. In addition, a government policy-maker might accept income inequality because it comes from IQ inequality. A teacher might make more effort to teach people in Group 1. What more would you want to know about these patterns before you decided what to do: A government policy-maker might look for situations in which Group 1 and Group 2 are more equal and learn from that. An IQ researcher might work with a geneticist to look for genes that Group 2 have that Group 1 does not have. Stop for a moment. Why would an IQ researcher ask a geneticist to look for genes that Group 2 have that Group 1 does not? Well, their reasoning might be: Because there is variation within each group and genes are involved in variation of other traits, e.g., height. And the gap has been there for a while in the USA and has not changed much. And there is no simple environmental or social factor that explains the gap. And what are the alternatives? 34 GeneWatch

If that is what they are thinking, consider the results of a study from France: New information: Group 1 = people who were adopted by poor families. Group 2 = their brothers and sisters who were adopted by well-off families. Perhaps the IQ researcher should ask a social scientist to look for social conditions that Group 2 have that Group 1 does not. But that is too simple. Indeed, it is too simple even to say it must be a combination of genes and environment so both the geneticist and the social scientist should look, respectively, for genes and social conditions. To see why, consider results that are common across many industrialized countries: New information: Group 1 is your grandparents’ generation. Group 2 is your parents’ generation. What would you now do on the basis of these patterns? OR What more would you now want to know about these patterns before you decided what to do? It turns out there is no simple environmental or social factor that explains the increase. Would we then look for genes to explain this increase? Recall the line of reasoning used by the IQ researcher in asking a geneticist to look for genes: There is variation within each group and genes are involved in variation of other traits, e.g., height. And the gap has been there in many countries.

And there is no simple environmental or social factor that explains the increase. And what are the alternatives? But we know that genes do not change much from one generation to the next, so there must be something wrong in the logic for explaining the gap between groups. There must be alternative explanations. To develop them, we need to think about more dynamic explanations. [Here we discussed what Flynn (2007) and his collaborator Dickens say about basketball in the age of TV to convey a model in which there is a matching of environments to differences that may initially be small (e.g., children who show an earlier interest in reading will be more likely to be given books and receive encouragement for their reading and book learning), and a social multiplier through which society’s average level for the attribute in question influences the environment of the individual (e.g., if people grow up and are educated with others who, on average, have higher IQ test scores, this will stimulate their own development).] We now have a sense that more dynamic explanations are needed, that genes versus environment—nature versus nurture—is too simple. So now turn to a last form of Group 1-2 differences: New information: Group 1 are African-Americans in the USA. Group 2 are Euro-Americans (“whites”) in the USA. What would you now do on the basis of these patterns? OR What more would you now want to know about these patterns before May-July 2013

you decided what to do? Why propose that genes could—if not now, then some day—explain the differences in averages between the two groups? After all, we have seen that differences in generations are associated with differences in average IQ test scores, but these cannot be associated with differences in genes. Realizing this takes away the plausibility of proposing that differences in races are associated with differences in average IQ test scores because both are associated with differences in genes. (If this last proposal is still plausible to you despite generational

differences not being different genetically, ask yourself if factors outside the data are influencing your thinking.) Third lesson: The world is not a simple matter of genes eventually explaining anything and everything living. Be skeptical of anyone who wants you to think it could be simple. (They are not being true to the science of average group differences.) Ask questions—dig deeper into the complexity, looking for dynamic explanations. In the meantime, when thinking about what would you do on the basis of any patterns resulting from statistical comparison of groups, remember

also the first lesson: Individuals in groups differ from the group average and should not be treated as if the group average is what they are. nnn Peter Taylor, PhD,is Professor of Critical & Creative Thinking at the University of Massachusetts Boston, and is director of the Science in a Changing World graduate track.

GeneWatch Multimedia CRG is excited to announce that GeneWatch magazine has launched its new Youtube video channel: GeneWatch TV. Each new issue of GeneWatch magazine will have a video component highlighting the key people and hot topics in its pages.

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Communicating Complexity The National Human Genome Research Institute’s Education and Community Involvement Branch takes on public genomics education. Interview with Vence Bonham

Vence L. Bonham, Jr., JD, is Chief of the National Human Genome Research Institute’s Education and Community Involvement Branch and Senior Advisor to the NHGRI Director on Genomics and Health Disparities.

public education related to genomic health literacy and genetics and science education targeting a variety of audiences.

GeneWatch: Can you say a bit about NHGRI’s public education programs?

We’ve narrowed our focus in many ways over the years. One of the reasons this branch was established is that when Dr. [Francis] Collins was the director of the Genome Institute, he recognized the need to engage diverse communities across the country. One of our major programs involved conducting community genetics forums, hosting year-long programs to discuss the issues of genetics and genomics research. We are excited to engage individuals within a community, not only to enhance their knowledge but also our understanding of the issues important to their specific community. We have also been involved in family health history projects. We’ve worked with the Surgeon General’s

Vence Bonham: The National Human Genome Research Institute established a branch in the Division of Policy, Communications and Education more than 8 years ago that is focused on public education, called the Education and Community Involvement Branch. Our primary mission is to engage the public, and specific targeted audiences within the public, to share research findings on genetics and genomic science, and to have dialogues with communities on issues that are of importance to them. The second component of our program has been focused on

36 GeneWatch

How has this work evolved over the past eight years?

office to communicate to the public the importance of knowing your family health history. We have also supported a number of demonstration projects in different communities related to family health history. In the next few years, our program priority area will focus on genomic literacy. We will assist in facilitating the public’s knowledge as genomic medicine comes to clinical practice. Today, we are beginning to see the reality of genomics in peoples’ lives, particularly related to clinical care. A major part of our work is to help educate the public (patients and family members of patients) as they make health care decisions, but also charge them to be scientifically knowledgeable and informed citizens. So with genomic literacy being a focus, are there any specific groups of people you are especially trying to reach? There are—although our budget has been reduced recently along with

May-July 2013

many other government agencies. Unfortunately, we have had to eliminate some of our programs. One audience we have especially tried to reach is American Indian and Alaska Native communities. Recently, we helped develop a genetics resource tool for tribal communities. We worked with the National Congress of American Indians on these efforts. The objective of this program is to provide genetic and genomic information, not encourage or discourage their participation in research, but to help tribal communities make decisions based on what is important to their community. One of the activities we are very excited about right now is the collaboration with the Smithsonian Institution in Washington, D.C. We partnered with the National Museum of Natural History to create a genomics exhibition that opened this month to the public. The 4,400 square foot exhibit highlights the role of genomics in the natural world and the importance of genomics in human health and the broader societal issues, integrating ethical and social issues. We expect the exhibition, “Genome: Unlocking Life’s Code” to reach over 5 million visitors in 15 months. It will then tour North America over a four-year period thanks to generous support from sponsors and private donors.

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Here’s an annoying question: When you have a goal of educating the broader public, how do you measure success? There are various ways to do it, but there are certainly limitations. Part of it is to measure access to the information you’re disseminating to the public and their participation in programs developed. We use data from programs, which include the number of individuals visiting our websites and attending our programs, and the number of teachers who use our materials. We also conduct formal evaluations. Program evaluation is a challenge of informal science education. So we know that many people are at least accessing the information, but are there any signs we might look for to indicate a broad improvement in public awareness of genetics? I think participation in certain activities is an indicator. With the example of collecting family health history, we have seen a steady increase in the number of people who have gone to the U.S. Surgeon General’s family health history tool and downloaded the information.

I’ve asked a couple of other people this same question: Are there any pervasive misconceptions about genetics you come across? Do you read things or see things on the news that make you just smack your forehead? Sure, I read things that make me cringe, statements which are not communicating the message that’s important for the public to understand. Specifically, not communicating the complexity of traits and diseases, the role and relationship of the genomic and environmental components of disease. In our programming, we attempt to address those misconceptions and misunderstandings, and it’s a clear goal of this new Smithsonian exhibition. It’s the challenge of what sells newspapers, what makes headlines, versus the complexity of the issues and increasing public knowledge of genomics. I’ve been involved in this area for over ten years, and clearly I see, in my opinion, an increased knowledge and understanding. And that’s happening in the lay media too. We clearly still need to address misconceptions about our understanding of the role of genes and the environment in disease, and the fact that most diseases are not single gene disorders, but complex and multifactorial. nnn

GeneWatch 37

What You Know That Just Ain’t So The public could be excused for believing that we have already entered the age of personalized genomic medicine, considering how widely and confidently the hype has been peddled. By Donna Dickenson Promoting public understanding of science in general, and genetics in particular, usually proceeds from the assumption that people just need more and better factual information. To some extent this is true, with a great deal of misinformation widely extant about genetics. There is no lack of possible candidates for the Least Scientifically Plausible Gene award, if one existed, including media-promoted genes for becoming a ruthless dictator, getting into debt, and that old favorite, the ‘gay’ gene. But what actually gets us into trouble, as Mark Twain rightly remarked, isn’t so much what we don’t know: it’s what we confidently think we know that turns out to be wrong. When the first draft of the entire human genome was sequenced in 2000, an editor at the respected science journal Nature predicted that by the end of the 21st century, “Genomics will allow us to alter entire organisms out of all recognition, to suit our needs and tastes … We will have extra limbs, if we want them—maybe even wings to fly.” It just ain’t so yet, and doesn’t look likely to be, not even in another 87 years. The public could be excused for believing that medicine is already being radically transformed by genetics. Francis Collins, former co-director of the Human Genome Project (HGP), has written: “We are on the leading edge of a true revolution in medicine, one that promises to transform the traditional ‘one size fits all’ approach into a much more powerful 38 GeneWatch

It ain’t what you don’t know that gets you into trouble. It’s what you know for sure that just ain’t so. - Mark Twain strategy that considers each individual as unique and as having special characteristics that should guide an approach to staying healthy.” Pharmacogenetics is beginning to have some important impacts, true, but genetic-based cancer medicine is so far not nearly as advanced as Collins’ premise of a paradigm shift brought about by personalized testing and therapy. As the New York Times science writer Nicholas Wade wrote in 2010, “After ten years of effort [since the HGP started operations] geneticists are almost back to square one in knowing where to look for the roots of common disease.” For example, a recent study of 101 genetic variants thought to be linked to heart disease actually proved of no value at all in forecasting the disease for a group of 22,000 white US women over a ten-year period. The old-fashioned method, taking a family history, was found to be more informative. All biotechnology is prey to “hype,” of course, but genetic science seems particularly prone to misconceptions about what we know that just ain’t so. Genetic exceptionalism—the belief that “genes are us,” the source of our

deepest identity—is both an illustration and a cause of that phenomenon. Perhaps it’s because many people believe that our identity is primarily genetic that they attach so much importance to genetic science, and also want to believe that it has succeeded beyond the actual evidence base. The gene is a cultural icon, as Dorothy Nelkin and Susan Lindee put it in The DNA Mystique: it’s widely seen as the equivalent of the soul. With this weight of belief attached to it, it’s not surprising that popular understandings of genetics are particularly resistant to the warning that what gets you into trouble is what you think you know, but which just isn’t so. Public optimism about genetics is continually fed new tidbits, as was plain during the recent celebrations of the discovery of the double helix. Buoyed up by the supposed scientific plausibility of the Selfish Gene hypothesis, genetic determinism still seems acceptable to many people at a time when other forms of determinism, such as racial determinism, are no longer respectable. Not only do we obey our genes, in the genetic determinist view: our genes obey the dictates of evolutionary success. There’s not much of our identity left at all, in that case, which doesn’t seem all that attractive a proposition. So why is this still a widely popular view? It’s internally contradictory of genetic determinists to attempt to persuade us to accept, presumably of our own free will, the claim that there is no such thing as free will. May-July 2013

Actually, in giving public lectures and appearing at science or literary festivals, I have found that people can see that point, although of course it causes productive controversy. They’re also quite wary of the opposite of over-the-top optimism and hype about genetics: unduly nightmarish visions of “Frankenstein science.” In interviews and focus groups,

the British social scientist Jenny Kitzinger found that respondents were very apologetic about introducing any qualms about biotechnology that might be dismissed as “science fiction” of the Jurassic Park variety. In a level-headed way, they wanted to know the answers to the sorts of questions that are the rightful realm of bioethics: whose interests are

served by particular discoveries in genetics and biotechnology, who is harmed and how can justice be best promoted? In my experience, people also have a strong attachment to the idea that the genome is the common property of humanity. When I give public talks on commodification of the body, the issue that arouses the most outrage and disbelief is genetic patenting: the fact that 25 to 40 percent of human genes are now the subject of private patents. These patents are now being contested in the Myriad Genetics case,* in which those opposing monopoly patents have formed an unexpected and promising alliance among patients, medical professionals and religious groups such as the Southern Baptist Convention. It’s possible to counteract what people think they know that’s simply not true with a reality check of the facts: for example, that retail genetics tests have very limited value, that transgenerational genetic engineering is so far limited to one macaque in one study with a huge attrition rate, or that breast cancer is actually ten different diseases when analyzed genetically, all requiring different treatments. But it’s also important to ask why we want to be so sure that what we know about genetics is true, even if it just ain’t so. nnn

Image: S. W. Anderson

Donna Dickenson, MSc, PhD, is Emeritus Professor of Medical Ethics and Humanities at the University of London and Research Associate at the HeLEX Centre, University of Oxford. Her new book is Me Medicine vs. We Medicine: Reclaiming Biotechnology for the Common Good.

* Note: The Supreme Court issued its Myriad decision shortly before publication of this issue. For more on the landmark decision, see pages 5-9.

Volume 26 Number 2-3

GeneWatch 39

Incidental Findings and Informed Consent A new set of recommendations for laboratories performing clinical genome sequencing breaks from some longstanding medical precedents. Interview with George Annas In March, the American College of Medical Genetics and Genomics (ACMG) released its recommendations on the handling and return of incidental findings in clinical sequencing, arguing that laboratories have “an obligation to report clinically beneficial incidental findings.” George J. Annas, JD, MPH is Chair of Health Law, Bioethics & Human Rights at Boston University School of Public Health – and co-author of a recent paper published in Science criticizing the ACMG recommendations.

GeneWatch: I think even the people involved in writing or approving the ACMG recommendations must have known they were pretty bold. Was there anything in them that particularly surprised you? George Annas: The main thing that surprised me is that they want to do away with informed consent. Actually, that didn’t surprise me, it shocked me. There’s no reason to do that. The medical profession gets to set the standard of care; they do not get to say whether patients can refuse treatment. That’s done by the law. It’s not a matter left to physicians. Even if a physician knows exactly how to save your life, the physician can’t do it unless you agree. Their whole premise in these recommendations is: “This could save your life, so we’re going to do it, whether you want us to or not. It’s so important that we—the doctors— get to decide.” They really seem to believe that. I’m not arguing that genomic information is not important information, but it’s more important to me, the patient, than it is to you, 40 GeneWatch

the doctor. This is my life we’re talking about, not yours! That’s the whole basis for informed consent. That’s why the patient gets to decide. Do you think this becomes a legal issue, then, if doctors are giving patients information that they might not have wanted to hear? Well, the legal issue they’re worried about is: If they don’t do it, will they get sued? They say, “We already have the information, once we sequence your entire genome”—although it’s not clear that these recommendations only apply to whole genome or exome sequencing, but assuming they do—”we have the information, now it’s only a matter of looking at it.” And they’re afraid if they don’t look for these certain genetic markers, a patient who finds out later that they have a condition that could have been detected this way could come back and sue the doctor for not looking and telling them about it. That is really what they’re worried about: liability. But they don’t seem to understand they’ve also got liability the other way, for testing without consent. Do you think there are legitimate concerns about patients making bad decisions? They’re not geneticists, so isn’t there a danger that patients could refuse testing based on bad information? That sounds like all the old paternalism arguments, where you wouldn’t need consent for surgery, for HIV testing, for anything the doctor

thinks you need and is afraid you will refuse! Would doctors prefer never to get consent? Some would, apparently, but most understand that this is an absolute requirement of the doctor-patient relationship, and is fundamental to any trust in the doctor-patient relationship. Put another way: What is a patient’s reasonable expectation? Is it reasonable for the patient to assume: “If they’re doing any genomic screening on me, they’re going to do these 57 other things?” Patients don’t know what’s going on unless you tell them; and I think you have a legal and ethical obligation to tell them. But there’s a common response to that, the analogy of the chest X-ray: If you get a chest X-ray because you have pneumonia and they find lung cancer, they’re going to tell you about it. That’s the analogy they use, but this is nothing at all like an X-ray. I really don’t know how they can, with a straight face, use the X-ray analogy. If you are doing a chest X-ray and you find something that you weren’t looking for, it’s accidental. You didn’t go in looking for it—which is exactly what these recommendations are saying labs should do in genomic tests, that is, look for 57 specific things. This might be a little off topic, but are you familiar with the gorilla study? You watch a video with people passing a basketball back and forth, and they ask you to count how many times they pass the ball. And in the middle of this – May-July 2013

Oh, in the middle of it a gorilla marches out onto the court! Right, and at the end they ask you “Did you see the gorilla?” And about half the people don’t see it. So there was another study where the researchers made a bunch of Xrays and gave them to 23 radiologists to read, and there was a little gorilla in the corner of the X-ray. Once you see it, you can’t miss it, but 83% of the radiologists didn’t see the gorilla. They went in looking for lung nodules and they didn’t catch what would have been an “incidental finding”—the gorilla. So X-rays are a bad analogy for incidental findings in genome sequencing. They’re not talking about results you just stumble across; they’re talking about results that you specifically search for. That’s not “incidental.” The X-ray analogy is used to make genome sequencing seem similar to other medical testing, but there are also arguments coming from the same places for why genetics is fundamentally different. They’re trying to make two arguments at the same time. One is that the genome is unprecedented, we’ve never had anything like this before, it’s magic, it can help save your life … and the other is that the genome is just like regular medicine, like an X-ray or cholesterol screening, so we shouldn’t treat it differently. Except for informed consent, apparently! It’s instructive to see the European incidental findings guidelines, which also came out this year. The Europeans spent a couple years working on this—they involved the public, had open meetings, and they posted the first draft on their website last July for comments. The ACMG didn’t do any of this. It wasn’t a secret process, but Volume 26 Number 2-3

they didn’t open it up to the public either. They’re working on the right subject, but they didn’t do it right, and that’s partly how they came to bizarre conclusions about informed consent. If you read the European recommendations, they’re about how to do informed consent in this context, not how to get rid of it. And they understand that the recommendations they make about adults are going to have implications for children, for newborn screening and pre-natal screening, and they think children should continue to be treated separately. That’s the other big change in the ACMG recommendations: They propose treating children like adults. Which is strange … it just comes from nowhere. No one has ever seriously suggested that before. Those are the two radical parts of this: Doing away with consent, and testing children for adult-onset diseases. After that, they make some good points. In fact, if they had put this out as a discussion paper, I’d say great, we need to discuss this! But to put them out in this form, as guidelines, is at best premature. Here’s the real question: If this “incidental” screening is such a good idea, why don’t you tell the patients about it? Here’s a counter-question, then: Why would a patient want to turn down something that could save their life? One answer is that patients can turn down a test for any reason. They don’t need a reason—it’s the patient’s decision. I was involved in an early study about the Huntington gene, and almost everybody in the genetics community said that as soon as we nail this gene down, everyone who is at risk for Huntington’s is going to

want to be screened. It turned out that almost nobody who is at risk for Huntington’s wants to be screened. People really didn’t want to know. This didn’t make sense to some doctors. The assumption is that people will want to know, but it’s not that simple. The right not to know is not trivial—it’s really important, like the right to refuse treatment. A doctor might say, “Why would you ever refuse treatment?” Well, a lot of people might just not want the treatment. They might rather not go through it, whether it’s an amputation or chemotherapy ... even dialysis, a lot of people just stop dialysis. Sometimes, for some people, the treatment is worse than death. In any event, it’s not for the patient to justify their decision, it’s for the doctor to justify their decision—they can’t just do things to the patient without consent. And for some doctors I think that’s just a hard thing to accept. They believe in what they’re doing, that they’re doing good work—and they are doing good, they’re trying to do what’s best for the patient. But ultimately it has to be the patient who decides what’s best for them. We all know we’re going to die, but Americans are pretty good at denying it. Some people would just rather not have to face the decisions that come with finding out you have a genetic predisposition toward something like breast cancer. Maybe they just want to go about their life and not worry about it. We might say “you’re in denial”—and sure, maybe they are. But they have that right. Genomic screening can help make your life better—but without consent it can inflict information on patients that can also make their lives miserable. nnn

GeneWatch 41

Fertility Cynics Excerpts from Cracked Open: Liberty, Fertility and the Pursuit of High Tech Babies. By Miriam Zoll

One Egg, Please, and Make It Easy I am an official member of the Late Boomer Generation. We grew up after the Pill and the Baby Boomers, in the socially transformative 1970s and ‘80s, watching with wide eyes while millions of American women—some with children and some not—infiltrated formerly closed-to-females professions like medicine, law, and politics. This exodus from the kitchen into the boardroom created a thrilling, radical shift in home and office politics, in the economy, and in relations between the sexes. “Shoot for the stars,” some of the more thoughtful women advised us, “but don’t forget about the kids.” We are the generation that also came of age at a time of burgeoning reproductive technologies. We grew up with dazzling front-page stories heralding the marvels of test-tube babies, frozen sperm, surrogates and egg donors; stories that helped paint the illusion that we could forget about our biological clocks and have a happy family life after—not necessarily before or during—the workplace promotions. Each week newsstands brimmed with stories about older celebrities becoming mothers with the help of miraculous fertility treatments. A few years ago, photographer Annie Leibovitz birthed her first child at the age of 52, while actress Geena Davis delivered at 48 and supermodel Christy Brinkley at 44. More recently we read about singers Mariah Carey 42 GeneWatch

and Celine Dion delivering twins at 41 and 42, and actresses Courtney Cox and Marcia Cross became mothers at 43 and 45, respectively. From where we stood, science and technology was the New God, giving women once considered over the hill a chance to start a family in middle age. Whether we knew it or not, we comforted ourselves in a security blanket of medical and media reassurances that age and motherhood no longer mattered. *** On the morning of our first appointment at the fertility clinic, Michael and I were nervous and excited. The clinic literature cited studies claiming, “Well over two-thirds of all couples seeking treatment for fertility- related problems become parents.” It didn’t occur to us then to ask if this statistic meant that two-thirds of parents birthed their own babies or a donor egg or embryo baby, or if they became parents through adoption or surrogacy. We were as green as could be about what to expect and what to ask, and we were eager to hear how the doctors thought they might help us. The world’s first test-tube baby had been born in Britain in 1978. Data from the European Society for Human Reproduction and Embryology indicates that globally in 2012, approximately 1.5 million assisted reproductive technology (ART) cycles were performed and roughly 1.1

Cracked Open: Liberty, Fertility and the Pursuit of High Tech Babies By Miriam Zoll Interlink (2013)

million failed (77 percent). In the United States, the Fertility Clinic Success Rate and Certification Act of 1992 requires the Centers for Disease Control (CDC) to publish selfreported ART pregnancy “success rates” from almost 500 fertility clinics scattered throughout the country. In 2010, the most recent data available, there was an overall failure rate of 68 percent. With no standardized reporting mechanism, the rates are based on cycles that require manipulation of egg and sperm outside of a woman’s body. They do not take into account success or failure rates of intrauterine insemination (IUI), May-July 2013

hormone treatments alone, or donor egg cycles that are cancelled. That first day, my husband and I met with two health care professionals, one who examined my female interior and another who walked us through the ins and outs of the medical aspects of fertility treatments. A marble egg sat on a little pedestal on both staff members’ desks, and at one point during our meetings they each held it between their thumb and index fingers. In the spirit of Vanna White, the former Wheel of Fortune hostess, they smiled and said, verbatim: “Like we say here at the clinic, it only takes one good egg to make a baby.” It was obviously the clinic’s mission statement. I immediately thought that, if all we had to do was find one good egg, we were certainly the right candidates for the job. How hard could that be, really? We had the best of modern science and medicine at our fingertips. I was in great mental and physical health. I exercised and practiced yoga regularly. I ate well. What more could a doctor ask from a patient? Little did I know that the process of finding one good egg would be a bit like panning for gold in a mine that had already been stripped of much of its bullion. A few weeks later, we met with a veteran physician I like to refer to as the Silver Fox. He greeted us with a warm handshake and a smile, and gave us time to look at his marble egg and photos of ferocious sperm fertilizing healthy eggs. Once he read through our medical records, he sighed very dramatically, clasped his hands together on top of his desk and looked me straight in the eye. “The first thing I want to say is that you’re old.” I winced as his words cut through me like a razor-sharp sword, and then within a split second I found myself in a serious state of denial, fighting Volume 26 Number 2-3

back the urge to tell him that he was the one with the white hair, not me. He was the old geezer in the room, not me. No sir, not me. All my life I had to convince people that I wasn’t as young as I appeared. I knew I was teetering on the brink of officially entering middle age, but I didn’t think I was there—yet. “Women your age have a harder time conceiving, especially if they have endometriosis, like you,” he continued. “You should have come to see me when you were thirty.” Why thirty? My friend Sarah became pregnant the first time she tried at the age of forty, and Tracy got pregnant the first time she tried at forty, and then again at forty-three. Susan and Stephanie, my colleagues at the United Nations where I was working, both delivered without IVF at forty-two and forty-three. I was a little shocked by the doctor’s recommendation, but I quickly learned that, after witnessing the failure of the technology time and time again, a growing number of fertility specialists around the world were now advising women to have their children in their twenties. Welcome to Casino Fertile …I was confident that, since my mother had birthed me later in life, I would have no trouble doing the same thing. During that first meeting with the Silver Fox, I proudly told him that my mother had been thirtynine years old when I was born. “Just because your mother did it doesn’t mean you will too,” he replied. “Do you think there’s a gene for birthing in middle age that your mother passed onto you?” nnn

From the Council for Responsible Genetics on the 30th Anniversary of GeneWatch magazine:

Biotechnology in Our Lives What Modern Genetics Can Tell You about Assisted Reproduction, Human Behavior, and Personalized Medicine, and Much More

Edited by Sheldon Krimsky and Jeremy Gruber For a quarter of a century, the Council for Responsible Genetics has provided a unique historical lens into the modern history, science, ethics, and politics of genetic technologies. Since 1983 the Council has had leading scientists, activists, science writers, and public health advocates researching and reporting on a broad spectrum of issues, including genetically engineered foods, biological weapons, genetic privacy and discrimination, reproductive technologies, and human cloning. Written for the nonscientist, Biotechnology in Our Lives examines how these issues affect us daily —whether we realize it or not. AVAILABLE NOW from Skyhorse Press

GeneWatch 43

“Democratizing Creation” with Glowing Plants A start-up company raises hundreds of thousands of dollars to create plants carrying a synthetic gene that makes them glow … and to ship them all over the country. By Pete Shanks In April, a tiny San Francisco startup launched a Kickstarter campaign to raise $65,000 to create bioluminescent mustard plants. If the project were fully funded, anyone who contributed $40 or more would receive a packet of seeds and full instructions for growing their own glowing plant. Offer not valid in Europe. In the U.S., however, Glowing Plant (the company) insists that this is entirely legal. It would be a mass distribution of what they claim will be the second ever synthetic organism, after Craig Venter’s bacterium, but no law prevents it. The basis of this is that they will be using gene-gun technology rather than viral technology to introduce the synthetic gene to the plant’s DNA, which may be less efficient but evades USDA regulations. Within a week they had more than doubled the original target and set a “stretch goal” of $400,000 to extend the project to include glowing roses. They have met that goal, and more, with over 7,500 backers, mostly pledging in the “$40 or more” range. This project is a go. First mustard, then roses — then glowing biological streetlights! (Why would you even want to turn them off, haven’t you seen Avatar?) To be clear, they are proposing to release somewhere between 5,000 and half a million experimentally modified plants to anyone with $40 who asks for them, at completely unknown sites, with absolutely no oversight or reporting requirement. Would any responsible lab really do this? Really? Technologically, the immediate 44 GeneWatch

effort is a plausible outgrowth of previous research; both Arabidopsis plants and fluorescence genes have been lab staples for years. The species is an experimental subject, the genes frequently used as insertion markers (usually requiring special light to be visible). Indeed, the “bio artist” Eduardo Kac exhibited a glowing rabbit in 2000.

What’s most novel about the current effort is social. Not just the crowd sourced funding, but the explicit reliance on the “wow” factor, the blithe libertarian disregard of regulatory authority (though they are certainly aware of and watching for reaction), and the connections with new-model capitalism and social media. That the

company’s website is a blog may be the least up-to-date aspect of the operation: The hip financial kids don’t even use email, they’re now on Yammer, HipChat and Tracker. Of course this is, in several senses, a stunt. Indeed, Glowing Plants has hired a public relations company, Command Partners, which has sent emails to possible media contacts. There have been articles in the New York Times, Time, and other mainstream publications; they may not have been required for the fundraising (its success was a regular story hook) but they certainly worked to hype synthetic biology in general. And that may have been the most important goal, at least to some of the participants. One of the three principals of Glowing Plant is Omri AmiravDrory, the founder and CEO of Genome Compiler, whose technology is intrinsic to the process. Genome Compiler is itself a small company with big goals that has at least $3 million behind it, according to TechCrunch, largely from Autodesk. The other Glowing Plant founders are Antony Evans, who has a background as a management consultant with Bain and Company among others, and Kyle Taylor, a Stanford-credentialed molecular biologist. Also involved, at least technologically, is Cambrian Genomics, headed by Austen Heinz (Seoul National University; Trinity College, Duke), a young entrepreneur who has a vision of mass production and a knack for partners. The company was cofounded by, among others, George May-July 2013

Church (synthetic biologist extraordinaire), Reese Jones (Silicon Valley veteran, venture capitalist) and John Mulligan (founder of Blue Heron Biotechnology, which worked on Venter’s bacterium). Cambrian has at least one modest National Science Foundation grant, and backing from Founders Fund, Felicis Ventures and Draper Associates; in April it was said to have several million in funding “lined up.” This is not 1970—these guys are not barefoot hippies, and they are certainly not selling a VW bus or H-P calculator to buy circuit boards. They do, however, have something in common with the pioneers of personal computing: They don’t know what will come of their technology, but they think it will be wonderful. Back in the days before VisiCalc and Lotus — let alone graphic interfaces and the web — personal computers were a hard sell. What were you going to do with them, balance your checkbook? Type in your recipes? (It wasn’t quite clear whether people were laughing with or at those who made such projections.) Actually, we’re now checking our bank accounts directly and searching online for exotic ways to prepare food. Did Jobs and Gates and the rest know that? Not exactly, but they had an inkling. That’s where Drory, Heinz and company think they are. Just listen to them on YouTube doing blue-sky speculation. Drory floated the idea of “glowing oaks” a year ago, so the mustard and roses are concessions to some kind of practicality. Heinz talks blithely about bio-fabbed terraformed environments on Mars, right after discussing synthetic cancer treatments in people and right before mentioning brain-computer interfaces and reviving extinct mammoths. Don’t focus on the specifics: These guys are convinced they will Volume 26 Number 2-3

change the world. And they might, just not necessarily for the better. Over 5,000 individuals are due to receive 50–100 mustard seeds each in May or June 2014, and nearly 500 are set to get an actual plant, and a rose 6–12 months later. One rich guy (at least; five at most) will have his name inscribed, in DNA, into the plant’s genome itself! And then there’s other pledge-drive premiums, ranging from vials of DNA with your personalized Tweet-length message ($500) to T-shirts ($25) and stickers (for a low, low $5, plus $2 if international shipping is required). The glowing plant release may be, as George Church suggests, as safe as one of these experiments is likely to get. (Suddenly it becomes a feature rather than a bug that the genetic modification might weaken the new species, so it would be unlikely to drive the wild type to extinction.) But how safe is that, really? There have been documented instances of genetically modified Arabidopsis thaliana outcrossing with wild-type plants, but the sales pitch has no mention of small-scale experimental release, no caveats, and no follow-up. This is irresponsible at best, and certainly ought to be illegal. Federal laws and regulations about biotechnology are notoriously poorly defined. The classic example is the FDA stepping in to shut down a purported Raelian human cloning lab in 2001 by asserting jurisdiction over biological products, drugs and devices. None of those obviously cover reproductive cloning, but virtually everyone wanted the Raelians stopped, so there we are. In this case, however, there is a significant lobby looking to exploit loopholes, and the sensible response would be to close them. Moreover, it’s by no means clear that the public thinks that any of this is so cool. A small subset of people obviously did respond to the

Kickstarter campaign, but then small subsets of people support almost anything. Search for “glowing plants” on YouTube and the numbers are not particularly impressive — the top for hits is 32,000 for one news report, two of the next three predate this effort, and by then the numbers are down to four figures and rapidly sink to three. Dolly the sheep, a source of genuine public fascination, gets half a million. The proponents are selling this concept as magnificent, inevitable, energy-efficient and ultimately democratic. It’s hard to avoid the suspicion that they’d call it a nutritious time-saver that will guarantee your health, improve your sex life, extend your lifespan and secure your retirement savings if that would move more product, but the “democratic” claim deserves some attention. “Democratizing Creation” is the title of a talk Heinz gave last year that is still at the front of his website, and also of a discussion that featured both Heinz and Drory. It’s a concept that is widespread among synthetic biology advocates, and clearly seems to build on the “garage start” history of Hewlett-Packard, Apple and others. There is an attraction to it, in the simplistic anarcho-libertarian style. But it’s fundamentally flawed. Even on its own terms, it atomizes society into individual components, and thereby eliminates the very concept of social consensus and deliberate decision-making. In that vacuum of responsibility, a few people can become very rich. To them, that’s a feature; to the rest of us, it’s a bug. nnn Pete Shanks is an author and activist who blogs regularly at Biopolitical Times.

GeneWatch 45


Supreme Court Allows the Taking of DNA Upon Arrest By Jeremy Gruber Police can routinely collect DNA samples from people who are arrested and charged for a crime, a divided U.S. Supreme Court recently ruled, limiting privacy rights and giving police unprecedented access to Americans’ DNA. The justices, voting in a close 5-4 decision, upheld Maryland’s DNA Collection Act, which was expanded in 2008 beyond DNA samples of people who were convicted of a felony to include anyone arrested for a crime of violence or burglary. The law is representative of a growing trend of states across the country massively expanding their collection of DNA samples. The federal government and at least 26 states allow DNA collection at arrest or have legislation pending that would allow it. Many more may now adopt the practice. Because only a fraction of those who are arrested are ultimately convicted, however, this practice necessarily will permit the government to collect DNA from innocent people. That the government would obtain DNA from any innocent person is disturbing, but the practice visits a special and severe harm upon minorities. Members of minority groups are arrested in disproportionate numbers, and a disproportionate percentage of innocent arrestees are therefore likely to be minorities. In Maryland v King, the Court has now carved out a dangerous exception to the bedrock principle of Fourth Amendment jurisprudence in this country that requires police have probable cause to believe that a suspect has committed a crime before a search can take place. Rather 46 GeneWatch

than waiting for the criminal justice system to sort out who is guilty and who is not, “a suspect’s criminal history is a critical part of his identity that officers should know when processing him for detention,” Justice Anthony Kennedy wrote for the majority. He likened DNA sampling to fingerprinting, calling DNA “a markedly more accurate form of identifying arrestees.” In so ruling, the majority failed to examine the robust informational content in every person’s DNA. As Justice Scalia noted in his scathing dissent, the decision’s scope is “vast” and “scary.” The Court also failed to acknowledge the practical reasons that police take DNA from suspects-to investigate unsolved crimes. In a series of cases, the Supreme Court has concluded that searches without probable cause are lawful if the government has “special needs,” and if the “primary purpose” of the search is not collecting evidence for ordinary law enforcement. Citing special needs, the justices and the lower courts have upheld a plethora of practices, from drunk-driving roadblocks to drug testing of students and transportation workers. In this case, the Court failed to distinguish between investigative searches and regulatory searches. “The Fourth Amendment forbids searching a person for evidence of

a crime when there is no basis for believing the person is guilty of the crime or is in possession of incriminating evidence,” Scalia wrote. “That prohibition is categorical and without exception; it lies at the very heart of the Fourth Amendment.” Kennedy said states could collect DNA from people arrested for “serious offenses,” and the Court did appear persuaded by some of the safeguards the Maryland law had in place, including automatic expungement of a DNA profile upon an ac-

quittal. However, many other states collect DNA upon arrest without even these limits in place; limits Scalia said were meaningless anyway. He said the logic behind the majority’s reasoning would permit DNA to be taken from someone arrested for a traffic offense. “Make no mistake about it: As an entirely predictable consequence of today’s decision, your DNA can be May-July 2013

taken and entered into a national DNA database if you are ever arrested, rightly or wrongly, and for whatever reason,” he wrote. Stephen B. Mercer, chief attorney within the Maryland Public Defender’s Forensics Division, said he believes the decision could set the stage for a universal DNA database made up of all citizens.

“All Marylanders who care about their genetic privacy should be alarmed and ready to explore political options,” Mercer said. The Council for Responsible Genetics was an amicus in the case, submitting a brief to the Court on the racial justice implications of collecting DNA upon arrest, citing the wealth of empirical and social science evidence

documenting the harms to minority populations from this practice. nnn

Trends in International Mathematics and Science Study (last visited May 19, 2013), 2. Table 5. Average science scores of 8thgrade students, by education system: 2011, International Mathematics and Science Study (last visited May 19, 2013), 3. Lyndsey Layton & Emma Brown, U.S. students continue to trail Asian students in math, reading, and science. The Washington Post (Dec. 11, 2012), b9-11e2-ae43-cf491b837f7b_story.html. 4. E.g., 2011 NAEP Science Scores, Achievement Levels, and Achievement Gaps, Education Week (last visited May 19, 2013), infographics/ naepscience_charts.html. 5. I was member of Teach For America’s 2008 Newark corps. 6. Wilhelmina A. Leigh & Malinda A Lindquist, Women of Color Health Data Book 15 (1998).

3. Najafzadeh, M., et al. 2013. Barriers for integrating personalized medicine into clinical practice: a qualitative analysis. Am J Med Genet Part A. 161A:758-763. 4. Carroll, J. C., et al. 2009. Genetic education for primary care providers: improving attitudes, knowledge, and confidence. Can Fam Physician. 55:e92-e99. 5. White, D. B., et al. 2008. Too many referrals of low-risk women for BRCA1/2 genetic services by family physicians. Cancer Epidemiol Biomarkers Prev. 17:2980-2986. 6. Brandt, R., et al. 2008. Cancer genetics evaluation: barriers to and improvements for referral. Genet Test. 12:9-12. 7. ARUP Laboratories. 2011. Value of genetic counselors in the laboratory. Salt Lake City, UT.

Thompson, Morris and Beckwith, p. 16

Zeeh, p. 26

1. J. Conant. Last of the outspoken scientists. Boston Globe, April 28, 2005. 2. G. Allen. Genetics, eugenics and class struggle. Genetics 79:29-45 (1975). 3. Office of Research Integrity, Responsible Conduct of Research Instruction Components (2009)

1. Wiener, C.M., Thomas, P.A., Goodspeed, E., Valle, D., and Nichols, D.G. (2010). “Genes to Society” – The Logic and Process of the New Curriculum for the Johns Hopkins University School of Medicine. Acad. Med. 85(3): 498-506. d.o.i. 10.1097/ACM.0b013e3181ccbebf. 2. Next Generation Science Standards. (2013). Retrieved on June 1, 2013 from

Jeremy Gruber, JD, is President and Executive Director of the Council for Responsible Genetics. CRG’s brief is available at

Endnotes Simoncelli, p. 5 1. Justice Scalia wrote a 1-paragraph concurring opinion, stating more or less that while he could not affirm all of the “fine details of molecular biology” he agreed with the upshot of the opinion. 2. Stohr, G. et al., “Gene patents limited by Court in mixed ruling for Myriad,” Bloomberg, June 13, 2013. 3. Holland, Jesse J., “High Court says human genes can’t be patented, partial win for Utah company,” Associated Press, June 13, 2013. 4. These initial reports were no doubt referring to the second part of the Court’s main holding, namely that complementary DNA (cDNA) “is patent eligible because it is not naturally occurring.” But while the cDNA question was an important one, it was not the central question in this case. The central question was whether genomic DNA was patent eligible. 5. The PTO made clear its policy to allow patents on DNA sequences in 2001, stating that an “isolated and purified DNA molecule that has the same sequence as a naturally occurring gene” is patentable subject matter. In justification of its policy, the PTO stated that “[A]n excised gene is eligible for a patent as a composition of matter or as an article of manufacture because that DNA molecule does not occur in that isolated form in nature.” Utility Examination Guidelines, 66 Fed. Reg. 1092, 1093 (Jan. 5, 2001). 6. Reynolds, T., “Genome data announcement fuels stock plunge, misunderstanding,” Journal of the National Cancer Institute, Vol 92(8): 594-597. Available at: http://jnci.

Kilakkathi, p. 13 1. Table 4. Average science scores of 4thgrade students, by education system: 2011,

Volume 26 Number 2-3

Riordan, Shather, Levin, and Billings, p. 20 1. Klitzman, R., et al. 2013. Attitudes and practices among internists concerning genetic testing. J Genet Counsel. 22:90-100. 2. Avard, D. and Knoppers, B. M. 2009. Genomic medicine: considerations for health professionals and the public. Genome Med. 1:25.

Herbert, p. 24 1. “What’s Preventing Us from Preventing Type 2 Diabetes?” Judith E. Fradkin, M.D., B. Tibor Roberts, Ph.D., and Griffin P. Rodgers, M.D., M.B.A. N Engl J Med 2012; 367:1177-1179. September 27, 2012.

Taylor, p. 33 1. For an accessible entry-point, see Flynn, J. R. (2007) What is intelligence? Cambridge University Press.

GeneWatch 47

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Genetics Education