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Volume 28 Number 1 | Jan-May 2015

ISSN 0740-9737

GeneWatch January-May 2015 Volume 28 Number 1

Editor and Designer: Samuel Anderson Editorial Committee: Jeremy Gruber, Sheldon Krimsky 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 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

Editor’s Note

Samuel Anderson

As the cost of genome sequencing continues to drop, the concept of personalized medicine has received a great deal of attention. There is certainly cause for excitement when we imagine a not too distant future in which patients’ treatments can be specifically tailored to match the peculiarities of their genome. However, as you will read in the following pages, there are some bigpicture applications of genome sequencing which haven’t been getting the buzz of personalized medicine. For starters, genomics is about much more than developing treatments. Muin Khoury (page 4) puts it succinctly: “Although personalized treatments can help save the lives of people who are already sick, disease prevention applies to all of us.” And so this issue of GeneWatch focuses on public health genomics. Khoury has plenty to say on the subject – he’s the Director of the CDC’s Office of Public Health Genomics. Yet, for all the promise of these new applications, he will agree with a primary theme in this issue, and in much of the discussion of public health genomics today: Before we get too excited, let’s not forget that just because we increasingly can prescribe genomic technologies to large groups of people doesn’t mean we always should. For example, Susan Klugman and Siobhan Dolan (page 10) look at the fast-approaching possibility of combining non-invasive prenatal screening with whole genome sequencing: “When these two technologies collide, there is great promise that risk-free diagnoses can be made early in pregnancy.” Yet they quickly point out that when this is applied to all pregnant patients as a routine procedure, the stress and anxiety it introduces may contain more risks than benefits. As James Evans (page 6) puts it: “Genomics holds potential for great public health benefits, especially in heading off certain severe but preventable diseases, but we must be careful about inflicting our favorite medical interventions on those who are already healthy.” Still, Evans points out, there really is reason for excitement about public health genomics; perhaps in contrast with personalized medicine, public health measures can prevent great benefit to the greatest number of people. “Stunning successes like vaccines and fluoridated water attest to the power of public health and dwarf the small good that I do in my medical office treating one sick patient at a time.” nnn

comments and submissions staff

Jeremy Gruber, President and Executive Director Sheila Sinclair, Manager of Operations Samuel Anderson, Editor of GeneWatch Cover Design Samuel 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 28,1 0740-973

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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. Student submissions welcome!

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 • Terri Goldberg Jan-May 2015

GeneWatch Vol. 28 No. 1

4 Public Health Genomics Has Come of Age An introduction to the issue, by the Director of the CDC’s Office of Public Health Genomics. By Muin J. Khoury 6 A Promising – and Practical - Vision for Public Health Genomics Genomics could deliver great public health benefits, but we must be careful about inflicting our favorite medical interventions on those who are already healthy. By James P. Evans 8 Consumer Engagement in the Genomics Era Our increasingly networked world enables new ways to connect people with information and services … but the health care system has some catching up to do. By James O’Leary 10 Whole Exome and Whole Genome Sequencing in Prenatal Testing: What’s the Whole Story? In some cases, new technologies offer great promise for risk-free diagnoses in early pregnancy; in other cases, they may add more risk than benefit. By Susan Klugman and Siobhan M. Dolan 13 Genetic Counselors: The Journey Into the Genomic Era As genomics is integrated into medicine, it is increasingly important for genetic counselors to be open and adaptable. By Catherine Wicklund 15 Genomics Education for Health Educators Health educators can serve to bridge the gap between the health care system and the lay community, but many health educators have little training in genomics. By Lei-Shih Chen 17 Et tu 23andMe? After years of emphasizing consumer privacy, 23andMe begins selling customer data to biotech and pharmaceutical companies. By Jeremy Gruber 18 Behavioral Genetics and the Trouble with Twin Studies A preview of the author’s new book, The Trouble with Twin Studies: A Reassessment of Twin Research in the Social and Behavioral Sciences. By Jay Joseph 20 Overview: Africa-U.S. Food Sovereignty Strategy Summit Organizations from Africa and the U.S. met in Seattle last year to discuss food sovereignty and foreign interventions in African agriculture. By Phil Bereano 23 Endnotes Volume 28 Number 1

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Public Health Genomics Has Come of Age An introduction to the issue, by the Director of the CDC’s Office of Public Health Genomics. By Muin J. Khoury

This special issue of GeneWatch features a number of articles on public health genomics. Topics covered include prenatal testing, newborn screening and genetic testing for adult common diseases. Cross cutting themes include consumer and provider education as well as the evolving role of genetic counseling in the era of genomics. Readers may wonder what public health genomics is all about. After all, genomics is about personalized or precision medicine, while public health pertains to population health. The mission of public health is to ensure conditions by which people can be healthy. Public health genomics is a multidisciplinary field concerned with the effective and responsible translation of genomebased science to improve population health. Genomics can be integrated into the three core public health functions: 1. Policy development: Public health serves as a convener and honest 4 GeneWatch

broker, advising providers, the public, and policy makers on the potential net health impact of a particular health technology (such as genetic testing). 2. Assurance involves implementing appropriate programs (such as newborn screening), laws, and regulations; assuring access; and strengthening providers’ genomic competencies and the general public’s health literacy. 3. Assessment applies public health sciences to monitor and evaluate effectiveness, quality and outcomes of deployment of genomic technologies in populations.1 As the promise of the Human Genome Project was mixed with unrealistic expectations, the public health community has called for a scientific approach to explore the balance of benefits and harms of advances in genomics.2 Public health fostered an ongoing active dialogue among basic, clinical and public health-related scientific communities, and helped

develop workforce competencies for integrating new tools in practice.3 There are many areas of ongoing progress in genomics, where information is making a real and immediate impact on improving health and preventing disease in populations and individuals: Newborn Screening remains the largest public health genetics program in the world, is run by public health agencies in all 50 states in the U.S., and identifies more than 30 conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention in more than 12,000 babies every year helps prevent death or disability. Each year, millions of babies in the U.S. are routinely screened for certain genetic, endocrine, and metabolic disorders using a few drops of blood from the newborn’s heel, or a point of care test at the bedside. Family Health History: Even with Jan-May 2015

Although personalized treatments can help save the lives of people who are already sick, disease prevention applies to all of us. the relentless progress in genomics, family history remains the simplest and most readily available genomic tool for disease prevention and health care across the lifespan. Family members share genes, behaviors, lifestyles, and environments that together may influence their health and their risk of disease. Most people have a family health history of some diseases (e.g. cancer, coronary heart disease, and diabetes) and health conditions (e.g. high blood pressure and hypercholesterolemia). Family health history can inform decisions to use evidence-based preventive services, such as screening for elevated cholesterol and osteoporosis. The updated Surgeon General’s My Family Health Portrait tool provides consumers with a free and easy way to record their family health information; is published in several languages; and enables the information to be readily shared with family members and health care professionals.4

build critical molecular sequencing and bioinformatics capacities at national and state levels to support public health efforts to control infectious diseases.5

Pathogen Genomics and Public Health: The emergence of powerful sequencing and bioinformatics tools has changed the landscape in the public health fight against infectious diseases. There are numerous uses for pathogen genomics including diagnosing infection, investigating outbreaks, describing transmission patterns, monitoring antimicrobial resistance, and developing interventions such as vaccines. In 2014 CDC launched the Advanced Molecular Detection (AMD) Initiative, which aims to

Finally, the recently launched U.S. Precision Medicine Initiative offers a new era of personalized treatment and health care.10 To enable the development of new targeted interventions, a cohort of one million or more people will be sequenced and followed up over time for health outcomes.11 Nevertheless, to fully realize success of this initiative, a population-based perspective is truly required.12 Collecting information from large numbers of people is far more informative when these people are representative of the underlying

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Genome Sequencing in Healthcare: We are now in the era of Next Generation Sequencing which includes many applications such as exome sequencing, gene panels, and whole genome sequencing.6 This advanced technology is increasingly utilized to identify genetic causes of rare, uncharacterized diseases, particularly childhood conditions.7 In addition, tumor-based genomic sequencing is used in oncology for molecularlytargeted tumor classification and gene-directed therapy.8 In 2013, the Blue Cross Blue Shield Technology Evaluation Center evaluated the clinical use of exome sequencing in the diagnosis of rare diseases and reported a significant uptake of the technology into clinical laboratory practice.9

population from which individuals are drawn. Using data from convenience samples collected without regard to important factors such as race/ethnicity, age, and sex can lead to substantial selection bias and unreliable disease prediction models. Also, while precision medicine is currently focused on treatment, a compelling case can be made for giving even more attention to early detection and disease prevention. Although personalized treatments can help save the lives of people who are already sick, disease prevention applies to all of us. “Precision prevention� may be useful in using both science and limited resources for targeting prevention strategies to subsets of the population at particular risk.13 In summary, the successful implementation of genomics in practice and the U.S. Precision Medicine Initiative require an active collaboration among multiple sectors including research, practice, consumers, industry and public health. Public health plays a key role in making the promise of genomics a reality by identifying evidence-based applications; informing and engaging providers, policy makers and the general public; and through effective integration into health programs. nnn Muin J. Khoury, MD, PhD, is Director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention. The findings and conclusions in this report are those of the author(s) and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

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A Promising – and Practical - Vision for Public Health Genomics Genomics could deliver great public health benefits, but we must be careful about inflicting our favorite medical interventions on those who are already healthy. By James P. Evans

Massively parallel sequencing is proving to be a potent clinical tool. The ability to sequence anywhere from dozens of genes to the entire exome of a patient can be critical to arriving at a diagnosis when confronted with an enigmatic clinical presentation that results from a primarily genetic etiology. Likewise, the application of massively parallel sequencing (MPS) to analyze a tumor’s genome and guide targeted treatment shows great promise for improving cancer care. Yet, while improving the care of the ill is a necessary and noble goal, our grandmothers had it right: “An ounce of prevention is worth a pound of cure.” If we wish to gain the most possible benefit from any medical application, we should look for ways in which it may be used to prevent disease in the first place. When it comes to medical interventions, the successful application of public health measures holds the greatest promise for providing the greatest benefit to the greatest number of people. Stunning successes like vaccines and

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fluoridated water attest to the power of public health and dwarf the small good that I do in my medical office treating one sick patient at a time. Thus, given the inherent power of public health to provide benefit, there has long been interest in applying genomics in this realm. Until recently, however, those efforts focused primarily upon genomic risk assessment in common disease. Unfortunately, these approaches have gained little traction so far, due to a variety of factors. We remain ignorant about the majority of the genomic contribution to common disease and genomic factors are only one of many etiologic contributors to the maladies we are most likely to develop. Moreover, the hope that the provision of genomic information would be a potent motivator to get people to change unhealthy lifestyles has, predictably, not been borne out. But there does exist a highly promising potential application of genomics in the public health sphere. Millions of people in the US harbor mutations that predispose them to

dramatically increased risk of severe but preventable disease. For example, given a population prevalence of about 1/400 for Lynch Syndrome, there exist close to a million individuals in this country who are at starkly elevated risk for colorectal cancer and could thus benefit from specifically targeted preventive modalities with already-proven efficacy. If one carefully compiles a list of genes that when mutated confer a high risk of preventable disease, roughly 1-2% of the US population carries such a mutation, making them candidates for robust prevention. The way we currently identify such individuals in routine clinical care is by their family history – bluntly put, we wait for family members to get sick or die to signal the presence of a potent genetic predisposition – arguably a rather grim and imperfect way to detect the presence of preventable disease risk in a family. However, with the advent of MPS it is now theoretically possible to identify those 1-2% of individuals in the population who are at high risk of preventable disorders

Jan-May 2015

and initiate preventive modalities in time to avert or greatly mitigate disease. The investigation of such an approach is timely. Mary-Claire King recently called for all women in the US over 30 years of age to undergo BRCA1/2 sequencing and President Obama has called for a “Precision Medicine” initiative. But we must be careful before we rush head long to inflict our favorite medical interventions on those who are already healthy. The healthy have less to gain from any medical intervention and more to lose than those who already suffer from disease and who come to us seeking help. And make no mistake, all medical interventions have the potential to do mischief, whether it be overt physical harm from treatment, over-diagnosis from a nonspecific screening test or simply missed opportunity costs in which time and money could have been better spent. A pilot study, GeneScreen (funded by the NHGRI) is currently underway at the University of North Carolina in which healthy individuals are being screened for mutations in a highly selected set of genes that when mutated result in a high risk of preventable disease, such as the Lynch Syndrome associated genes and BRCA1/2. There are many challenges to realizing the tantalizing potential of this approach, including how to adequately consent, educate and return results to vast numbers of people. But the time is ripe for investigating its promise. As in newborn screening, if one can target those conditions that are amenable to early treatment or prevention, much good could result. The current study will answer important questions about implementing such a program, but further questions will remain, such as the true penetrance and prevalence Volume 28 Number 1

of high-risk mutations in the general, unselected population. One could ask a rather obvious question: “Why focus on a set of highly selected genes? Given the plummeting costs and wealth of information to be discovered, why not just do whole genome sequencing (WGS) on everyone?” Cogent arguments against such a clinical approach are myriad. We are still far from understanding how to interpret the vast majority of the 4 million variants found upon WGS. Long experience in clinical care has taught us well that there is little point in generating massive amounts of information in the provision of an individual’s medical care that we do not understand and that begs for misand over-interpretation. Moreover, the notion that one’s whole genome sequence is a “resource” that can be drawn upon for years ignores the reality that a whole genome sequence derived in 2015 will be vastly out of date by 2018, just as a genome sequence derived in 2012 would now not be relied upon. Until this rapidly advancing technology plateaus there is no point in depositing a vast, soon to be obsolete data set in your medical record. More to the point, the entire lesson of the new genomic landscape is that sequencing is getting cheap and easy. We can therefore sequence what we need to sequence when we need to do so as we understand it. This is not to argue that we shouldn’t obtain whole genome sequence data on vast numbers of people. We should and we must if we ever hope to gain sufficient knowledge to interpret the human genome. But that endeavor falls squarely within the context of research - we must not conflate research with clinical care. WGS of vast numbers of people must be pursued in a context in which those

individuals are appropriately consented and educated and in which we do not dilute their clinical care and squander opportunity costs by making them unwitting research subjects. Finally, the issue of financial cost looms large. Medical care is phenomenally expensive. Even at today’s relatively low cost of sequencing, providing a whole genome sequence (not to mention storing and interpreting it) costs more than $1,000. Moreover, the upfront cost of a test is only the tip of the iceberg in clinical medicine. An unwarranted test, even if free, is exorbitantly expensive if it generates downstream testing or overt harms. These costs cannot and should not be borne by the medical system until we show that the provision of such information to the healthy individual is clinically beneficial. The time is right to aggressively investigate the promise of targeted sequencing of carefully selected genes to detect those members of the population who are at high risk of preventable disease. Critical, immediate tasks include determining which genes warrant sequencing in healthy individuals, how to do so in an affordable way, how to properly educate individuals about the implications of both a positive and negative result and how to effectively implement preventive care when such mutations are found. In the end, if we determine that such a program results in improved outcomes to individuals and their families, we will have begun to realize a promising vision of public health genomics. nnn James P. Evans, MD, PhD, is Bryson Distinguished Professor of Genetics and Medicine at the University of North Carolina School of Medicine and the Editor-in-Chief of Genetics in Medicine. GeneWatch 7

Consumer Engagement in the Genomics Era Our increasingly networked world enables new ways to connect people with information and services … but the health care system has some catching up to do. By James O’Leary

Since its inception, people have used the Internet to find what they need and to connect with one another. While healthcare and public health systems have only recently begun to leverage the power of online communication and social media to improve health, advocacy organizations, support groups, and other disease-based affinity groups have dramatically proliferated to fill the gap. Their close ties to individuals and families create effective feedback loops and allow them to iteratively improve programs and mobilize large numbers of individuals to enact change. More than that, these groups are engines of innovation in health. They coordinate and offer services, drive international research, educate and engage individuals and families, and advocate for smarter public policy. While public health has successfully aligned with gatekeeper communities in the past, it has largely failed to tap into the considerable power of the engaged healthcare consumer on an individual level. Public health programs have often been implemented without the high levels of public awareness and consumer engagement seen in successful advocacy or marketing efforts. Because of this, rigorous standards are in place to ensure that interventions are evidence based, of significant utility, and broadly applicable to populations. These services operate in the background, seamlessly improving the nation’s health. And yet, 8 GeneWatch

the distance between public health and its beneficiaries has had other, more negative effects. Trust of traditional public health activities such as vaccination has eroded in recent years and public health mandates have been challenged in states, especially where they extend to quality improvement and public health research. In addition, the field of public health has seen stagnant or diminishing funding, while the costs of healthcare have ballooned. As a relatively new field, public health genomics provides an incubator where we can explore new types of collaboration and innovation. Novel partnerships between traditional public health systems, clinical medicine, and advocacy and support organizations are a requirement due to minimal funding and limited public health workforce with genetics expertise. In addition, hallmark programs such as newborn screening emerged with strong partnership

from disease advocacy organizations. Yet we have not even begun to scratch the surface of the power of true consumer engagement to transform health. Dr. Tom Frieden, Director of the Centers for Disease Control and Prevention (CDC), argues that the biggest impacts can be made at the systems level (the base of the ‘Health Impact Pyramid’), including socioeconomic factors and changing the context to make individuals’ default decisions healthy.1 Counseling, education, and clinical interventions appear at the top of the pyramid. Given that, one would be wise to ask where the benefit lies in engaging individuals. On a personal scale, people are: • Keepers of valuable health information • Actors that can impact their own or others’ health • Spokes or hubs in a complex network of families and

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communities • Voices for policy and cultural change But it is these attributes in aggregate that present the biggest potential benefits for public health. While there are “low hanging fruit” interventions that can be taken through public policy, the majority of decisions that people make are driven by culture and social interaction. In order to achieve change in these areas, we must simultaneously hold in our minds the idea of population impact and individual engagement. While these concepts are often viewed as contrary to one another, it is increasingly possible to create systems and technology that are both personalized and pervasive in our modern networked age. Public health genomics provides at least two key opportunities for population impact and individual engagement centered on data collection and use and screening and testing. Data Collection and Use The amount of health data produced each year is dramatically increasing and genomics will only heighten that trend. Everyone is familiar with the term ‘big data,’ but its full potential in healthcare is uncertain. One thing is certain: Deidentified or poorly structured data provides limited utility for healthcare and public health interventions, especially in genomics. In addition, useful data tends to live in silos, such as public health registries, electronic health records, medical devices, apps, and search history. What if we empower individuals by allowing them to dynamically control who sees and uses their data? By following a model that is closer to that used by online tools and apps, we could Volume 28 Number 1

gather data in layers, collecting some broad, representative data as part of public health programs, while asking for permission where the data is more sensitive and thus more useful. As a community, we fear that giving people choices will lead to opt-out, but this very fear undermines our ability to benefit those who contribute their data, and thus to incentivize participation. How do we look more honestly at what we can provide back to individuals for contributing their data without holding useful services hostage? Numerous lawsuits and the destruction of millions of bloodspots previously available for public health research have taught us the dangers of low public engagement. In essence, access to richer data can allow better access to targeted services and support and help us build a stronger public health system. The decisions we make with regard to control and use of genomic sequencing data and associated phenotypic data will determine whether we continue current models or engage individuals in new ways. Screening and Testing With shrinking budgets and a growing number of screening tools, we need to access the networked world to scale our impact. While certain conditions may meet the evidence and utility threshold for broad-based screening programs, such as newborn screening, there are thousands of other diseases that have a major impact on health but require a different approach. One example of such an approach is cascade screening. Cascade screening is a targeted method to identify those at high risk for conditions, promoting prevention and early diagnosis. Individuals who are “at risk” for a specific genetic disease are evaluated and, if they test

positive, their parents, siblings, and children may be evaluated. This can identify additional relatives who may be evaluated through a ‘cascading’ effect. Currently in our healthcare and public health system, we have poor mechanisms for reaching family members or helping individuals connect with their family members, yet there are a multitude of social media sites that do just that. Last quarter Facebook passed 1.19 billion active users, and yet the standard practice that most healthcare institutions use to contact family members is a certified letter. We must embrace tools and resources that help connect ‘at risk’ individuals, link family members through patient portals and electronic health records, and simultaneously create emissaries of public health. An important strength of public health is the scale of its impact. While clinical interventions can lead to significant positive health outcomes, they are frequently limited in scope and costly to implement. Public health’s focuses on infrastructure, policy, and cross-cutting programs are the foundation of our nation’s health. How can we engage the public to magnify that impact? How can we harness the innovation and flexibility of affinity and consumer groups as effective partners? We must think outside the box of traditional public health while maintaining its strengths. Public health genomics is a perfect bridge between the sectors of public health, clinical medicine, and the empowered consumer. But, we need to do more than tweet public health facts to make a difference. We must create a fundamental shift in the way we engage if we are to create a new age of health. nnn James O’Leary, MBA, is Chief Innovation Officer at Genetic Alliance. GeneWatch 9

Whole Exome and Whole Genome Sequencing in Prenatal Testing: What’s the Whole Story? In some cases, new technologies offer great promise for risk-free diagnoses in early pregnancy; in other cases, they may add more risk than benefit. By Susan Klugman


Siobhan M. Dolan

Advances in genetic technology are allowing a more rapid and costefficient capacity to perform clinical genome-scale sequencing via whole exome and whole genome sequencing. At the same time, non invasive prenatal screening using cell free fetal DNA is providing access to fetal DNA and the potential to perform genetic testing prenatally without incurring the risk of miscarriage. The excitement about these two developments coinciding has prompted calls for whole genome sequencing on cell free fetal DNA. This certainly is an exciting prospect, but on the front line in the clinical prenatal reproductive genetics setting, there are many challenges to consider before this becomes a reality. Clinical Genome-scale Sequencing Whole genome sequencing (WGS) involves sequencing an individual’s entire genome, whereas whole exome sequencing (WES) involves sequencing the exome, the protein coding regions, which constitute approximately 1 percent of the genome. WES can be used to target particular genes of clinical interest and can have a lower cost but may miss mutations due to insufficient capture of some exons. Clinical genome-scale sequencing is used currently in the pediatric or adult setting when a patient presents with clinical findings that have a high suspicion for a genetic etiology and traditional genetic testing has been negative or inconclusive. 10 GeneWatch

Traditional genetic testing includes karyotype analysis, to determine the chromosomal complement of an individual, and targeted testing based on clinical features that can diagnose syndromes such as Williams-Beuren syndrome or Familial Hypertrophic Cardiomyopathy. Commonly, evaluation of intellectual disability, developmental delay or multiple congenital anomalies in a child will prompt consideration of genome-scale sequencing when karyotype, targeted testing and possibly chromosomal microarray analysis are negative. Candidates for genome-scale sequencing are often already undertaking a plan of clinical care and genetic testing results may or may not alter that care. One of the most important outcomes of genetic testing can be that test results offer insight into etiology, which helps parents answer the lingering question as to why their child has a particular clinical phenotype. Such information might be useful for parents who are planning future pregnancies or for family members who share the same genetic variants. In cases where well-defined syndromes are diagnosed, genetic information can allow for anticipatory guidance for care for a range of clinical outcomes that the patient might experience. However, genome-scale sequencing might provide results of interpretive uncertainty. Benign familiar variants are commonly found and variants of uncertain significance can

occur as well. Also, secondary findings may be revealed, defined as genetic findings that are not relevant to the reason the test was performed. An example might be the identification of a BRCA1 mutation (an indicator of increased risk for breast and ovarian cancer) in a 2-year old child being evaluated for developmental delay. Possible results need to be explained to the patient or parents (in the case of a child) so that testing is performed only after obtaining informed consent indicating that parents understand the risk of interpretative uncertainty, incidental findings and variants of uncertain significance. Many parents are likely able to tolerate results of interpretive uncertainty because their child’s care is ongoing and genetic information is seen as “bonus” or extra information that might help explain the “why” but does not dramatically change the plan of care. In the example of a 2-year old child being evaluated for developmental delay, the child will continue to receive developmental assessment, physical therapy, occupational therapy, early intervention or head start, and routine pediatric care, regardless of whether the genetic testing results identify a mutation. Non-invasive Prenatal Screening (NIPS) To date, cell free fetal DNA is being used clinically to screen for trisomies 21, 13 and 18, sex chromosome aneuploidies (Turner syndrome, Jan-May 2015

Klinefelter syndrome) as well as a few microdeletions (22q11 deletion, Angelman, Cri-du-chat, 1p36 deletion, and Prader-Willi syndrome), depending on the laboratory. Led by several major companies that are developing this technology, non invasive prenatal screening (NIPS) is a highly sensitive screening test for a group of significant genetic conditions that offers results early in pregnancy, thereby better quantifying patients’ risk. However, NIPS is not a diagnostic test and results indicating increased risk need to be confirmed by a diagnostic test, either chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester. While NIPS is an excellent screening test, there are some challenges with implementation. An adequate fraction of cell free fetal DNA must be obtained and obese women are at increased risk for having an inadequate fetal fraction, leading to a failed test. In addition, confined placental mosaicism and vanishing twin as well as maternal cancers can influence cell free fetal DNA results, leading to an incorrect assessment of fetal status. Furthermore, although NIPS is not a diagnostic test, some providers and patients misunderstand the distinction between screening and diagnostic testing for aneuploidy. NIPS can allow some to learn about certain aneuploidy risks while avoiding the risk of miscarriage. However, women with NIPS results showing increased risk are strongly advised to undertake a CVS or amniocentesis to confirm a definitive diagnosis. This misconception can lead to two potentially problematic outcomes. One is the termination of a pregnancy based on screening test results only. The second is a pregnant patient who receives an NIPS result Volume 28 Number 1

showing increased risk but declines diagnostic testing and thus spends the duration of the pregnancy with uncertainty about the clinical diagnosis. Continued patient and provider education is needed, as well as access to genetic counseling, so that reliance on NIPS instead of invasive testing does not lead to missed diagnoses of aneuploidies as well as pregnancy termination decisions based only on screening tests.

Whole Genome Sequencing on Cell Free Fetal DNA When these two technologies collide, there is great promise that riskfree diagnoses can be made early in pregnancy. In families with known genetic conditions, such as couples who are both identified as carriers of Tay-Sachs disease or Sickle cell anemia, identification of mutations in a fetus at 11 weeks gestation without the risk of miscarriage would be a wonderful clinical offering. In fact, GeneWatch 11

one of the most successful uses of cell free fetal DNA testing to date has been screening fetuses at risk for Rh sensitization. However, when WGS on cell free fetal DNA is proposed as an option for all pregnant patients, it raises concerns about the clinical utility of such testing in routine prenatal care. Information revealing variants of uncertain significance can be particularly problematic in the prenatal period, causing anxiety and stress in families who must make decisions about the pregnancy. What is relevant to consider is that the data obtained on a child is very different from the genetic information obtained on a fetus. We assume there is a bias of ascertainment in that all mutations and/or variants of uncertain significance obtained prenatally might not have the same implications if they are obtained in a child with an anomaly or disability. In order to be able to provide accurate predictions to parents, population-based datasets are needed regarding genetic variants in ALL children rather than simply datasets developed from affected children. Parents’ interest in the broadest possible number of genetic tests is often greatest when structural anomalies are noted on a prenatal ultrasound. Prenatal chromosomal microarray testing has been in clinical use for many years and the yield of an abnormal result after a normal karyotype is highest, approximately 6%, when structural anomalies are noted on the ultrasound. Thus the fetus with severe or multiple congenital anomalies is an area where WES and WGS are currently under investigation and may prove to have significant clinical utility. But, in the absence of a known fetal abnormality, genetic test results of interpretive uncertainty or uncertain significance 12 GeneWatch

are very difficult for both providers and patients to process. Uncertain genetic information prenatally has limited clinical utility and yet introduces much stress and anxiety, and there are arguably more risks than benefits of introducing such information into the prenatal period. Anecdotally, our pediatric colleagues have suggested that that anxiety of uncertain genetic test results identified prenatally can linger into the newborn period and negatively affect attachment and parenting. Thus, we caution that pre-test counseling and a complete assessment of risks and benefits must be provided to parents so that appropriate candidates can be identified for WGS on cell free fetal DNA. The jump to WGS on cell free fetal DNA might be in our near future but there are clinical, counseling and technical challenges to overcome first. The genomic era is an exciting time and maternal child health will certainly benefit from breakthroughs in genetics and genomics. Preterm birth, birth defects and infant mortality are all areas where genomic testing will hopefully contribute to a better understanding of causation and allow for the development of preventive strategies. However, continued research, data and education are all needed before we can translate these exciting advances into routine prenatal care in a way that consistently helps women and families achieve optimal healthy birth outcomes. nnn Susan Klugman, MD and Siobhan M. Dolan, MD, MPH, are both Professors in the Department of Obstetrics & Gynecology and Women’s Health at the Albert Einstein College of Medicine and an attending physicians in the Division of Reproductive Genetics at Montefiore Medical Center, the University Hospital for Einstein, in New York City.

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

Jan-May 2015

Genetic Counselors: The Journey Into the Genomic Era As genomics is integrated into medicine, it is increasingly important for genetic counselors to be open and adaptable. By Catherine Wicklund

When I reflect upon the past 20 years that I have been involved in training genetic counselors, I am aware of how much the genetic counseling profession has evolved and changed. Genetic counselors have been extremely successful transitioning into new specialties and entering into new areas such as neurogenetics, cardiology and psychiatry. Yet I am also aware of the ways in which genetic counselors can continue to grow and develop. I am continually impressed with genetic counselors that push the limits, enter into new spaces, challenge the accepted norms, integrate new service delivery models and continually look at ways to evolve and adapt to the emerging genomic landscape. Program directors have an immense responsibility to look to the future and prepare graduates for what will come. As we know, predicting the future is not easy, but it

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is important that genetic counselors must be adaptable, flexible and have a true understanding of what it means to have genomics and the profession be fully integrated into medicine. Keeping this in mind, emphasis on the core genetic counseling skills that apply in any specialty setting must drive the training curriculum. Graduate programs are moving away from having multiple lectures specifically on individual rare diseases, and instead are moving towards focusing on the genetic core concepts that allow genetic counselors to understand the complex molecular mechanisms behind genetic and genomic conditions. Instead, educators can use particular conditions to serve as examples to illustrate these concepts. Information about a condition can be easily retrieved; it is the ability to critically think, filter large amounts of information and determine what is pertinent to a client that is essential.

Graduate programs also cannot expose our students to every specialty that exists or will exist in the future. The idea that there needs to be a course specific to every specialty is not feasible and is also unrealistic. Each specialty may have its own content area; however, the genetic counseling skills counselors possess apply to each and every setting, clinical and those outside of the clinical setting. Perhaps different skills are emphasized more or less in each setting, but the application is the same. It is the graduate program’s duty to teach students how to apply their skills to different content areas, to recognize that they are building their skills on each subsequent rotation and to get them to move from saying “This is my first prenatal rotation, therefore I can’t…” to “although this is my first prenatal rotation, I have developed the skills necessary and can apply them in this setting.”

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As educators and practitioners, let us not forget the art of genetic counseling either: The emphasis on our clients and not on our own agenda; the recognition that information can be empowering, but not for all people; and the fact that there are a variety of ways that people make decisions, and the information we can provide may or may not be a pivotal factor for all of them. It is our responsibility to help clients determine what is relevant for them and be comfortable with our assessment. This will become even more important as we continue to move into genomic medicine. Tailoring counseling sessions to our clients is an integral part of genetic counselor training and we should allow ourselves the option of not covering all information in a single session. It is truly a genetic counselor’s ability to counsel their clients, tailor information, communicate effectively, attend to the psychosocial issues in the session, and facilitate decision making that is the foundation of the profession. As a program director and genetic counselor, I continue to struggle with the term “non-directiveness.” I agree with those who advocate moving away from this as a tenet of genetic counseling. While the word itself once served an important purpose, it is now a chain that holds us back from truly embracing our role in the future of genomic medicine. While shared decision making may be a better word to describe what genetic counselors do, genetic counselors must also recognize the tension that exists in helping a client make decisions that are in line with their personal preferences and the need to be sensitive to wise allocation of limited healthcare resources. What role does personal utility play in the current healthcare landscape? While we all can recognize the importance 14 GeneWatch

of personal utility and its relationship to clinical utility we must question whether this should be a driver of what healthcare providers offer and to whom? With limited healthcare dollars, our graduates and practicing genetic counselors need to be critical when thinking about whether a genetic test is indicated for each client they counsel and then which one. Genetic counselors must continue to acknowledge the point that we are part of a broader healthcare system with limited resources. It is no longer responsible to offer every test that is available for an indication, and it will become even more important for genetic counselors to continue to do what they do best: determine the best test for that particular patient based on their unique clinical picture. Literature published from large diagnostic laboratories has demonstrated that genetic counselors are essential in determining the most appropriate test to perform for a given clinical indication. We need to have the same level of awareness in our clinical practice since we currently live in an environment that is driven by technology and are expected to make decisions with limited evidence and guidance. Finally, what does it mean to have genomics truly integrated into medicine? How can genetic counselors continue to move from collaboration to true integration in the healthcare team? The role of the genetic counselor will continue to change and evolve. It is important that we listen to our healthcare colleagues to determine their needs and respect their knowledge and practice culture. Each setting and situation will be unique and it is our responsibility to adapt to these settings. Healthcare providers will continue to integrate genomics into their practice and genetic counselors are ideal partners to

help with implementation. The roles will vary from directly interacting with patients in a physicians’ office to consulting with the healthcare team and/or participating in graduate and continuing education for non-genetics healthcare providers. In addition, genetic counselors must also focus on growing the genetic counseling workforce by examining their current training models, facilitating development of new graduate programs, and increasing the number of graduates in established programs. This will require not only efforts from the genetic counseling community, but support from their institutions and non-genetics healthcare providers, and this support will need to extend to a national level. While the didactic curriculum of a program can set the stage for change, it is also the other messaging from program directors, clinical supervisors, faculty and the broader healthcare community that influence the future genetic counselors’ perspective. An awareness of the messages we emulate is the first step to continued cultural change. Are we being open, adaptable and flexible? Are we using evidence to guide our decisions? Are we being open to new and expanded roles for genetic counselors and to new genetic service delivery models? All professions must ask similar questions. The amount of change we have already adapted to is astounding, and I am confident we will continue to rise to the task. nnn Catherine Wicklund, MS, CGC, is Associate Professor in Obstetrics and Gynecology-Clinical Genetics and in the Center for Genetic Medicine at the Northwestern University Feinberg School of Medicine.

Jan-May 2015

Genomics Education for Health Educators Health educators can serve to bridge the gap between the health care system and the lay community, but many health educators have little training in genomics. By Lei-Shih Chen

Envision a pregnant woman living in a small town. Regardless of her age during the pregnancy, doctors recommend several prenatal genetic tests. These tests include the quadruple screen test, invasive prenatal genetic testing, and the latest non-invasive prenatal genetic testing (as a “replacement” for amniocentesis). Similar to many other prospective parents in the United States, this woman and her partner face uncertainty, anxiety, and challenges of informed decisions, understanding of the testing process, and the interpretation of test findings. While the obstetrician explains those prenatal genetic tests to this couple

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in the limited visiting time, the conversation is filled with medical jargon and terminology. Additionally, this small town lacks genetic counselors. If this couple wants to see a genetic counselor to learn more about prenatal genetic testing, they will have to travel to a big city. After the delivery, when this couple is exhausted, they are asked to decide whether or not their baby will undergo the newborn screening test. Then they have to make another decision regarding the use of the residual blood from this newborn screening test. This experience is quite common for many Americans. The endless amount of genomic information

presented to patients and the general public is often overwhelming. Along with prenatal genetic testing, individuals may also learn about BRCA1/2 cancer genetic testing from the mass media because of the “Angelina Jolie effect.” In addition, people may hear about stem cell research, gene therapy, personalized medicine, direct-to-consumer genetic testing, and genetically modified food from various sources. The reality is that genetics and genomics impact Americans’ lives. Thanks to hard-working scientists, genomic technologies have advanced dramatically and genomics information has exploded rapidly. Whether you like it

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or not, there is no way to avoid it. The issue is that public and patient education in genomics still lags behind genomic innovations, which leads to the incomplete understanding of genomic discoveries and difficulties in making informed decisions among the lay public. Unfortunately, there are inadequate numbers of genetic professionals to educate patients and the general population. One of the solutions for solving the shortage of genetic professionals is to involve health educators. So, who are health educators? Health educators are members of the public health workforce, experts in public health education, health behavioral changes, health program planning, implementation, and evaluation. There are over 75,000 health educators in the United States working in diverse settings, such as hospitals, K-12 schools, communities, universities, governments, worksites, and non-profit organizations. Unlike traditional health care providers, health educators are trained to “educate” people. Education is not merely giving a talk or handing someone a brochure or flyer. It involves a systemic, complex learning process of addressing people’s knowledge, beliefs, values, and culture. To qualify as a health educator, one must obtain a degree in health education, health promotion, health behavior, community health, or a related field. The National Commission for Health Education Credentialing, Inc. offers Certified Health Education Specialist (CHES) certification for entrylevel health educators and Master Certified Health Education Specialist (MCHES) for the advanced-level health educators ( Certain states require that health educators must have CHES or MCHES certification to entitle their work. As health educators are 16 GeneWatch

experts in educating the lay individuals and general public, they are the ideal candidates for bridging the gap between the health care system and the lay community through translating complex genomic information to lay individuals, enhancing general public’s genomic literacy, designing educational materials, enhancing communication between doctors and patients, and developing genomics education programs and evaluating the effectiveness of such programs. Researchers in the health education field have called for genomics training for health educators since 1993. During the past decade, several groups have provided genomics training for health educators or public health workers in general. Here in the Department of Health Education at Texas A&M University, I initiated a health promotion & genomics lab in 2009 ( and later started offering a course on health promotion and genomics to educate graduate students. This course covers the basic genomics content, latest development in genomics, and state-ofart literature in public health genomics. Students are required to write a manuscript related to genomics. This year, another course – advanced health promotion and genomics – was developed for graduate students who previously took the health promotion and genomics course. Students are anticipated to gain more indepth knowledge of genomics. As to undergraduate students, one of the doctoral students is working with me to design an online training in cancer genomics and plans to implement it this year. During 2010-2013 my research team developed and offered a theorybased continuing education program in genomics for health educators in the state of Texas. Along with the purpose of increasing participants’

genomics knowledge, the curriculum of the genomics education program addresses intention, attitudes, and self-efficacy. These components have proven to be strong predictors for affecting health educators’ practices in genomics. About 600 Texas health educators participated in this genomics education program. After the training, participants significantly adopted genomics skills into their work. Based on the success of the initial program, we have been creating new advanced curricula in genomics for health educators who have attended our initial training. We also plan to offer both initial and advanced curricula for more health educators in Texas. The next goal is to expand the Texas-based genomics education program to health educators nationwide. Despite ongoing genomics education activities at universities for health education students and beyond universities for practicing health educators, challenges remain. Genomics is still not a mainstream topic in the health education field. There are insufficient health education faculty and students trained in genomics. At the university level, genomics is not a required course for most health education programs. Although a genomic forum was established at the American Public Health Association, other traditional health education organizations are still missing the genomics theme. Accordingly, additional genomics education for health educators and increased funding to support genomics education in the health education field are strongly needed in the near future. nnn Lei-Shih Chen, PhD, CHES, is Associate Professor of Health and Kinesiology at Texas A&M University.

Jan-May 2015

Et tu 23andMe? After years of emphasizing consumer privacy, 23andMe begins selling customer data to biotech and pharmaceutical companies. By Jeremy Gruber

Nowhere has the confluence of public health, basic research in genomics, and the market economy been on clearer display than in the rise, fall, and subsequent reemergence of the direct to consumer (DTC) genomics industry. The industry emerged roughly ten years ago, riding the parallel waves of the growing social interest over personal information and the early euphoria over the seemingly limitless potential of genomic research and development for improving public health. Criticisms that these companies were marketing limited health information with no proven clinical application were regularly given short shrift, replaced by glowing promises of the future. Endless media reports offering little more than public relations talking points became the norm and many scientists themselves trumpeted the industry. This even after a high-profile investigation by the U.S. General Accounting Office in 2010 produced a damning report titled “Direct-toConsumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices” which led to a congressional hearing that lambasted the industry. Regulators started to notice, and several years of hearings and letters to the industry from a concerned FDA followed. As the FDA’s investigations grew more intense and the industry continued to show little to Volume 28 Number 1

no profitability, most of the legitimate companies changed course except for one. Sustained with significant amounts of venture capital, particularly from Google, the DTC company 23andMe soldiered on, seemingly impervious to the industry changes and outside forces marshalling against it. But that hubris had consequences and last year the FDA, frustrated at 23andMe’s lack of interest in working with them, sent 23andMe a ceaseand-desist letter ordering it to stop marketing its health related services. A firestorm of bad press ensued. That action reduced 23andMe, at least in the U.S., to little more than an ancestry testing service. Ramped up marketing overseas and a new engagement with the FDA weren’t enough to assure investors in light of continued unprofitability. So the company that not so long ago rode the slogan “Your genetic information should be controlled by you” recently announced collaborative partnerships with over a dozen biotech and pharmaceutical research groups, from Genentech to Pfizer, hungry to get at its massive database of over 800,000 consumer samples. Years of the company’s and its sycophant’s claims to ensure consumer privacy now seem like a distant memory, as the same era of Big Data that transformed tech companies like Google and Facebook into commercial powerhouses where “you” were the product now seems to have

firmly taken hold of the industry. Indeed, the leading genetic ancestry company, which not so long ago was similarly claiming no interest in data selling, announced its own intentions to sell data to biotech and pharmaceutical companies not long after. Several commentators have argued over the years that this was always the industry’s intent, that a money-losing fee-for-service business plan was simply cover for an industry that had always intended to sell consumer data once their database became large enough. Perhaps they were right all along. What is clear is that 23andMe’s “new” business plan is part of a gold rush occurring at the nexus of Big Data and Big Pharma, one that’s even encouraging tech powerhouses such as Facebook, IBM and Apple to get into the business of collecting personal health information in questionable ways in the name of advancing medical research. And there’s no end in sight. nnn Jeremy Gruber, JD, is President and Executive Director of the Council for Responsible Genetics. GeneWatch 17

Behavioral Genetics and the Trouble with Twin Studies A preview of the author’s new book, The Trouble with Twin Studies: A Reassessment of Twin Research in the Social and Behavioral Sciences. By Jay Joseph Since the 1920s, twin studies have been put forward as scientifically validated “natural experiments” for assessing the relative importance of heredity and environment. Identical (MZ) twin pairs are said to share 100% of their segregating genes, whereas fraternal (DZ) pairs are said to share only 50% on average. After reaching its low point in the early 1960s, twin research began a comeback that continues to this day, as twin studies are widely cited in support of important genetic influences on a great variety of psychological characteristics, behaviors, psychiatric disorders, and common medical conditions. Almost all studies investigate twin pairs reared together in the same family home, while a tiny yet influential handful have studied what researchers and others refer to as “reared-apart” twin pairs. Most genetic researchers and their critics agree that the results of a (non-twin) family study, where a behavioral characteristic is found to “run in the family,” can be explained entirely by non-genetic factors. Adoption studies are much rarer, and have their own set of methodological issues and questionable assumptions. In light of gene discovery failures, twin research continues to supply the main scientific evidence put forward by the nature (genetic) side of the “nature-nurture” debate. The first chapters of The Trouble with Twin Studies examine the six existing reared-apart twin studies, which have focused on areas such as 18 GeneWatch

IQ and personality. The most often cited are the three “classical” studies published between 1937 and 1965, and the highly publicized “Minnesota Study of Twins Reared Apart,” whose most frequently cited publications appeared in the 1980s and 1990s. Other topics include the “Cyril Burt scandal” and fraudulent or unethical practices in the social and behavioral sciences in general, and the controversy surrounding Berkeley psychologist Arthur Jensen’s claim that IQ score differences between various ethnic groups are due mainly to genetic influences. A central problem with these studies of rearedapart identical twin pairs (MZA, or monozygotic twins reared apart) is that most pairs were reared together for periods of time, had frequent or regular contact, and/or had a close emotional bond with each other. Most twin pairs, therefore, were only partially reared apart. Behavioral similarity can also result from the fact that, although they are raised in different family environments, both members of an MZA pair are the same age and sex, are very similar in physical appearance, and usually grow up in very similar cultural and socioeconomic environments in the same eras. The influential and widely cited Minnesota Study of Twins Reared Apart (MISTRA) is very problematic – particularly the questionable basis upon which the researchers arrived at genetic interpretations of their data. Problem areas include the many

The Trouble with Twin Studies: A Reassessment of Twin Research in the Social and Behavioral Sciences By Jay Joseph Hardcover edition published in 2015 by Routledge (Taylor & Francis Group). For ordering details and other information, please see the page and the Taylor & Francis page.

similarities of the twins’ social and cultural environments, the researchers’ failure to make their raw data available for inspection by independent reviewers, the questionable assumptions underlying the researchers’ model fitting procedures (some of which the researchers themselves recognized are “likely not to hold”), sample size issues, recruitment bias, and a reliance on twins’ potentially unreliable accounts of their degree of separation and behavioral similarity. A major issue has been the failure of the Minnesota researchers to publish and evaluate their full-sample Jan-May 2015

reared-apart fraternal twin (DZA, or dizygotic twins reared apart) IQ correlations, even though they reported full-sample DZA correlations for non-IQ behavioral characteristics in various MISTRA publications. This occurred despite the fact that IQ (cognitive ability) was the main focus area of the study, and that the researchers had designated DZA twins as the MISTRA control group. To this day, the researchers have not published and evaluated the results for all tests completed by the full sample of twin pairs they studied. Nevertheless, based on the incomplete data that have been published, there does not appear to be a statistically significant Wechsler (WAIS) IQ or Raven Progressive Matrices IQ correlation difference between the MISTRA MZA and DZA groups - a result that runs counter to genetic predictions and theories, and by itself would invalidate genetic interpretations of the MISTRA IQ studies. Because MZA pairs are more similar genetically than are DZA pairs, an MZA sample correlation not higher than the corresponding DZA sample correlation at a statistically significant level suggests that non-genetic (environmental) factors alone are responsible for raising both correlations above zero. Contrary to the way the authors of textbooks and other authoritative works usually write about the MISTRA, the study failed to provide scientifically acceptable evidence in support of genetic influences on IQ, personality, and other types of behavior. The second section of The Trouble with Twin Studies focuses on the much more common studies comparing the behavioral resemblance of reared-together identical (MZT, or monozygotic twins reared together) versus same-sex fraternal twin pairs (DZT, or dizygotic twins reared Volume 28 Number 1

together), which use a procedure called the “classical twin method.” The evidence undermines this method’s “equal environment assumption,” as MZT pairs grow up experiencing much more similar environments and treatment, and experience much greater levels of identity confusion and psychological attachment, than experienced by DZT pairs. Therefore, the greater behavioral resemblance of MZT versus DZT pairs can be completely explained by environmental factors. The book also examines twin research in psychiatry in the context of over four decades of gene discovery failures in the field. Psychiatric twin studies are based on MZT-DZT comparisons (the twin method), and constitute the most frequently cited evidence that the major psychiatric disorders have an important genetic component. Although supporters of psychiatric twin studies argue that the equal environment assumption has been tested and upheld, the bestreplicated disconfirmation of this critical theoretical assumption consists merely of all the psychi¬atric twin studies ever performed. Nine decades of such studies have shown consistently that pairs experiencing similar environments and high levels of identity confusion and attach¬ment - MZTs - resemble each other more for psychiatric disorders than do pairs experiencing less similar environments and much lower levels of identity confusion and attachment - DZTs. The results of these EEA-test studies strongly suggest that the assumption is false. Finally, the book addresses the possibility of a “post-behavioral genetics” era, beginning with the ongoing decades-long failure to identify genes for behavioral characteristics such as IQ, personality, and psychiatric disorders. Genetic researchers

have since 2008 referred to a “missing heritability problem,” but I propose an alternative understanding: that the best explanation for “positive” twin study findings in combination with negative molecular genetic results is not that “heritability is missing,” but that something is wrong with genetic interpretations of twin data. The numerous assumptions, decisions, claims, and conclusions made by leading twin researchers and others have been tested under the microscope of molecular genetic research, and the (negative) results are now in. Twin studies published to date have been unable to supply scientifically valid evidence in support of genetic influences on the characteristics studied in the social and behavioral sciences. My conclusions are that (non-molecular) behavioral genetic and psychiatric genetic research methods are, to varying degrees, unable to disentangle the potential roles of genetic and environmental influences on differences in human behavior; that the historical positions, research methods, and “landmark” studies of these fields are massively flawed and environmentally confounded; and that family, social, cultural, economic, and political environments - and not genetics - are the main causes of psychiatric disorders and differences in human behavior. nnn Jay Joseph, Psy.D., is a licensed psychologist practicing in the San Francisco Bay area. In addition to The Trouble with Twin Studies, he is the author of The Missing Gene: Psychiatry, Heredity, and the Fruitless Search for Genes (2006) and The Gene Illusion: Genetic Research in Psychiatry and Psychology under the Microscope (2004). For a complete list of publications, please see GeneWatch 19

Overview: Africa-U.S. Food Sovereignty Strategy Summit Organizations from Africa and the U.S. met in Seattle last year to discuss food sovereignty and foreign interventions in African agriculture. By Phil Bereano “Food sovereignty is the right of peoples to healthy and culturally appropriate food produced through ecologically sound and sustainable methods, and their right to define their own food and agriculture systems.” -Wikipedia

years ago, based on understanding the realities of the Gates foundation’s interventions into African agricultural policies and programs. The Pesticide Action Network (PANNA) worked closely with AW to plan such an event. The Gates Foundation’s Green Revolution in Africa

AGRA Watch, a project of Seattle’s The Gates Foundation has devoted Community Alliance for Global Justice, hosted an Africa-U.S. Food Sov- over $3 billion to agriculture since its ereignty Strategy Summit in Seattle founding in 1997. Since 2006, it has October 10-14, 2014. The four-day partnered with the Rockefeller Founmeeting brought together a range of dation and chosen Africa as its main grassroots organizations, progressive target of global market integration, funders, and international networks working towards food sovereignty in Africa and the United States. The goal of the Summit was to deepen cooperation and develop a shared analysis of current public and private foreign interventions in African agriculture (e.g., pushing GMOs), most notably by the Bill and Melinda Gates Foundation. The shared premise was the empowerment of Africans and supporting what photo courtesy of Heather Gray they have defined as necessary for agricultural policies founding the Alliance for a Green and food sovereignty. Revolution in Africa (AGRA). Yet, while AGRA serves as the loBackground and Planning cal PR arm of the Foundation’s work, The idea for a convening a meeting it in fact receives only a small portion between U.S. and African food sovof the Gates Foundation’s total spendereignty activists was born several ing on agricultural development. 20 GeneWatch

Rather paradoxically, North American and European institutions have received the greatest sum of total funds devoted to African agriculture. This money largely goes into the development of new biotechnology, like the GM banana developed for Uganda, and to promote these new technologies among African scientists so that they may promote them on a local level. The organizations nominated to participate in the Summit were selected by an international steering committee comprised of both U.S. and Africa-based organizations. Ultimately, 14 U.S.-based organizations and 7 Africa-based organizations attended, representing a mix of national NGOs, international networks, smallscale producers and farmer networks, and communitybased organizations (see listing at the end of this article). “You come. You buy the land. You make a plan. You build a house. Now you ask me, what color do I want to paint the kitchen? This is not participation!” - Simon Mwamba, East African Small-Scale Farmers’ Federation at a forum on AGRA

The Summit Itself Each morning, the Summit participants began their work by gathering Jan-May 2015

in a mistica, a powerful practice originated by the Brazilian Landless Workers Movement, Movimento dos Trabalhadores Rurais Sem Terra (MST). Delegates contributed seeds, banners of struggle, and other meaningful objects to the center of the room. Calling on ancestors, families, and joint moral and spiritual intention, this meditative activity cultivated a sense of trust and community among the U.S. and Africa-based organizations, strengthening their resolve to advance the struggle against philanthrocapitalism and the neocolonial scramble for Africa. During the meetings, and over meals, there were discussions and exercises that helped everyone learn more about each other. The organizations shared the context of their work, the challenges they face, and the strategies they have adopted to resist corporate interventions and to build resilient, agro-ecological agriculture and food-sovereign communities. AGRA Watch provided a summary of our research examining the Gates Foundation’s agricultural development programs which also analyzed the patterns of giving to discern the Foundation’s true objectives and modus operandi. Near the end of deliberations, the organizations attending the Summit adopted a joint statement representing a commitment to working together as well as some concrete ideas for campaigns and work moving forward (see below). In addition to the daily meetings, African participants were featured in a large public event held at Seattle’s Town Hall on Sunday, October 12. The event, “The Global Struggle for Food Sovereignty: A Discussion with African Food Leaders and Farmers,” included a panel discussion featuring three of the attendees: Million Belay (Alliance for Food Sovereignty Volume 28 Number 1

in Africa and MELCA-Ethiopia), Mariam Mayet (African Centre for Biosafety, South Africa), and Elizabeth Mpofu, (ZIMSOFF, La Via Campesina Africa, Zimbabwe). The panel was moderated by Eric HoltGiminez of Food First. During the question and answer period, all of the African participants took the stage for a lively discussion. Each African participant described a bit about the situation in their countries and how the right to food is affected by international corporations and other actors. The event and reception beforehand drew an enthusiastic audience of over 400. On the last day of the Summit, participants toured local urban and rural farms in the greater Seattle area as part of the Food Sovereignty Farm Tour. Our guests from Africa and the U.S. learned about our local food community while sharing ideas and making connections. Summit Accomplishments The group agreed to collaborate on several activities: GM Banana Campaign: Genetically modified bananas are the first GM crop ever to be tested on humans in the U.S.; feeding trials are currently taking place at Iowa State University. While there are many other GM crops on the African continent that the Gates Foundation and other international organizations hope to introduce, such as Bt cotton, GM wheat, and “Water Efficient Maize for Africa” (WEMA), the GM banana

copyright Alex Garland Photography

offers a strategic opportunity to examine and intervene in a process that touches both Americans and Africans. Through the campaign we hope to expose the roles of the Gates Foundation, the G8 New Alliance, and USAID in forcing genetically modified seeds on Africans in order to open new markets for multi-national corporations.1 No to the G8 New Alliance Campaign: Obama’s New Alliance for Food Security and Nutrition, adopted by the G8, is one of the most powerful threats to the African continent, seeking to transform the laws that govern African agriculture.2 The Gates Foundation is very much involved in the Alliance, and interestingly, the retiring head of US AID, Rajiv Shah, had been a functionary of the Gates Foundation’s agriculture development program. Participants recognized that there is no North American movement to challenge the role of the United States in the ‘New Alliance for Food Security and Nutrition’ aspect of this powerful Alliance. We have begun steps to better educate North American NGOs so that they may join with African and European groups already mobilizing on this subject. Research:


participants GeneWatch 21

volunteered to further develop research on AGRA and the Gates Foundation. U.S. partners will focus on identifying their funding trends while the African partners will focus on documenting impacts of AGRA and Gates Foundation funding. Agroecology and Farmer to Farmer Exchange: The group proposed ways that urban and rural farmers, youth, women, farmworkers and others can share ideas for sustainable solutions through learning exchanges. Ideas included U.S. groups visiting Southern Africa next year, taking messages of agroecology, climate justice and GMOs to the UN Climate Change Conference (COP 21) in Paris, and developing a hip-hop caravan in Africa modeled on African Peace Tours. A statement was signed by all the participants at the conference indicating common ideals and plans to go forward. Statement of the Africa-US Food Sovereignty Summit We are brought together by a shared belief in just, sustainable and equitable food for all. We share a concern over the dangerous loss of agricultural biodiversity and of the loss of dignified and viable livelihoods in the countryside. In great appreciation of the wisdom we each shared coming from our diverse cultures, struggles and experiences that are all a reflection of our shared humanity: We stand together against the corporate control of our food systems, the lack of accountability of global institutions like the G8 New Alliance For Food Security and Nutrition, the Global Agriculture and Food Security Program (GAFSP), the United States (US) government’s Feed the Future Initiative, the Grow Africa Partnership, the Gates Foundation 22 GeneWatch

and its Alliance for a Green Revolution in Africa (AGRA), and others, that are forcing their policies and institutions upon the farmers of the world to open up markets and create spaces for multinationals to secure profits; against the monopolization of our seeds that criminalizes the historical farm practices of saving, sharing, selling and exchanging seeds; against the displacement and dispossession of small-scale farm producers and workers from their lands; against the new Green Revolution, the global Free Trade Agreements, “climatesmart agriculture” and “sustainable intensification”. We pledge solidarity with the struggles of each of our organizations and with the global food sovereignty movement, and will work in mutual support to amplify the voices of the people on the ground fighting for food sovereignty, share information with the general public about food sovereignty and agro-ecology, and expose the myths underlying the false idea that corporate agriculture is necessary to “feed the world.” Africa-based Participants: • Mercia Andrews, Trust for Community Organization and Education, South Africa • Million Belay, Alliance for Food Sovereignty in Africa and MELCA-Ethiopia • Daniel Maingi, Growth Partners Africa and Kenya Food Rights Alliance, Kenya • Mariam Mayet, African Centre for Biosafety, South Africa • Herschelle Milford, Surplus People Project and Agrarian Reform for Food Sovereignty Campaign, South Africa • Elizabeth Mpofu, ZIMSOFF, La Via Campesina Africa, Zimbabwe

• Bridget Mugambe, Alliance for Food Sovereignty in Africa, Uganda North America-based Participants: • Saulo Araujo, WhyHunger • Debbie Barker, Center for Food Safety • Ben Burkett, Federation of Southern Cooperatives, National Family Farm Coalition • Jahi Chappel, Institute for Agriculture and Trade Policy • Georgia Good, Rural Advancement Fund, Rural Coalition • Jim Goodman, Family Farm Defenders • Heather Gray, US Africa Network • Lisa Griffith, National Family Farm Coalition • Eric Holt-Gimenez, Food First • Marcia Ishii-Eiteman, Pesticide Action Network North America • Sara Mersha, Grassroots International • Darcey O’Callaghan, Food & Water Watch • Kadiri Sennefer Ra, Detroit Black Community Food Security Network • Karen Swift, Swift Foundation • Yeshica Weerasekera, International Development Exchange AGRA Watch Team: Bill Aal, Phil Bereano, Matt Canfield, Janae Choquette, Heather Day, Travis English, John Fawcett-Long, Bobby Righi, Saba Samdani nnn Phil Bereano, JD, was a co-founder of CRG and AGRA Watch. He participated in the negotiations of the Cartagena Biosafety Protocol, its Supplemental Protocol on Liability and Redress, and meetings of the UN’s Codex Alimentarius dealing with GE food issues, such as labeling. AGRA Watch’s work may be followed at agra-watch Jan-May 2015

From the Council for Responsible Genetics

Endnotes Khoury, p. 4

The GMO DecepTiOn What You Need to Know about the Food, Corporations, and Government Agencies Putting Our Families and Our Environment at Risk

1. ehs/ephli/core_ess.htm 2. public-health-genomics-15-years-on/ 3. 4. fhh-web/home.action 5. topic/Budget%20Information/ factsheets/AMD_Factsheet.pdf 6. http://www.ncbi.nlm.nih. gov/pubmed/24074859 7. full/10.1056/NEJMoa1306555 8. http://www.ncbi.nlm.nih. gov/pubmed/23539594 9. 10. full/10.1056/NEJMp1500523 11. 12. genomics/2015/01/29/ precision-medicine/ 13. pubmed/?term=25362191 O’Leary, p. 8

edited by Sheldon Krimsky and Jeremy Gruber Foreword by Ralph nader

“If you do not understand why there is so much opposition to GMOs, nationally and internationally, this book is the place to start.” —Marion Nestle, professor of nutrition, food studies, and public health at New York University and author of Eat Drink Vote: An Illustrated Guide to Food Politics “The GMO Deception is the most comprehensive resource covering all areas of this complex topic.” —Ken Roseboro, editor and publisher, The Organic & Non-GMO Report

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1. Frieden, T. R., A Framework for Public Health Action: The Health Impact Pyramid. Am J Public Health. 2010 April; 100(4): 590–595. PMCID: PMC2836340 Bereano, p. 20 1. See, for example, 2. See http://www.actioncontrelafaim. org/fr/espace-jeunes-enseignants/ content/hunger-just-another-business

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ISSN 0740-9737

GeneWatch Vol. 28 No. 1  

Public Health Genomics

GeneWatch Vol. 28 No. 1  

Public Health Genomics