Abstracts and Speaker Bios
ELSI Virtual Forum June 15-16, 2020
Please click on the titles below for information about each presentation.
Integrating ELSI and Genomics: Past, Present, and Future
Monday, June 15 from 10:15 - 11:00 am
Speakers: Eric Juengst, PhD; Pilar Ossario, JD, PhD; Eric Green, MD, PhD; Moderator: Amy McGuire, JD, PhD
ABSTRACT
In 1990, the first Program Announcement for the ELSI Program solicited research proposals across nine domains in the intersection between human genetics and society. The idea was to sponsor research that anticipated the issues that might arise with the detailed mapping of our chromosomes that the Human Genome Project promised, to ensure that society could prepare itself for what was to come. In this Keynote, Drs. Eric Juengst, Pilar Ossorio, and Eric Green will delve into the past, present, and future of ELSI integration in genomics.
Dr. Juengst will begin by tracing the history of the ELSI Program, offering one observer’s take on how the genomics community’s ELSI experiment became self-reflective and how the need arose for the even broader interdisciplinary integration that characterizes ELSI research today.
Dr. Ossorio will then explore ELSI integration in the present day, highlighting the ways the ELSI concept has expanded beyond the genomics community and beyond the NIH. She will use this expansion to reflect on ELSI’s development within the genomics community and to reflect on whether central tensions in the ELSI concept have been adequately resolved or need to be continually renegotiated within and beyond the genomics community.
Lastly, Dr. Green will take us into the future by exploring the National Human Genome Research Institute’s (NHGRI) new strategic plan, which is to be published in October 2020. The significant advances in genomics since the NHGRI’s last strategic plan in 2011 demonstrated the need to once more engage the community in a new round of planning for an updated vision about the future of genomics. The new plan will detail the most compelling areas of genomics research and their application to human health and disease and will inform NHGRI’s scientific priorities, ensuring that the Institute continues to be a driving force at the Forefront of Genomics.
The Keynote will wrap up with an interactive discussion and Q&A session, moderated by Dr. Amy McGuire.
BIOGRAPHIES
Dr. Eric Juengst is Director of the UNC Center for Bioethics and Professor in the Department of Social Medicine and the Department of Genetics at the University of North Carolina, Chapel Hill.
He received his B.S. in Biology from the University of the South in 1978, and his Ph.D. in Philosophy from Georgetown University in 1985. He has taught medical ethics and the philosophy of science on the faculties of the medical schools of the University of California, San Francisco Penn State University, and Case Western Reserve University . From 1990 to 1994, he served as the first Chief of the Ethical, Legal and Social Implications Branch of the National Center for Human Genome Research at the U.S. National Institutes of Health, and from 2005-2010 he directed the Center for Genetic Research Ethics and Law at CWRU, an NIH supported “Center of Excellence in Ethical, Legal and Social Implications Research”.
Dr. Juengst’s research interests and publications have focused on the conceptual and ethical issues raised by new advances in human genetics and biotechnology. Since 1997 he has been the principal investigator of a series of N.I.H. funded research projects examining the ethical and social policy issues that will be raised by the availability of genetic and genomic technologies. His current R01 project examines ethical and social implications of “Personalized Genomic Medicine” as a paradigm for health care.
Dr. Pilar Ossorio is Professor of Law and Bioethics at the University of Wisconsin-Madison (UW) and the Ethics Program Lead at the UW-affiliated Morgridge Institute for Research. She directs UW’s Research Ethics Consultation Service and led the ethics core of UW’s Center for Predictive Computational Phenotyping. She has served on numerous national and international policy committees. Her research interests include: governance of emerging technologies; ethics and regulation of machine learning for health care; data sharing; regulation of research with human participants; the use of race in research and health care; and other questions relating to ethics in genomics.
Dr. Ossorio received her Ph.D. in Microbiology and Immunology in 1990 from Stanford University. She went on to complete a post-doctoral fellowship in cell biology at Yale University School of Medicine. Throughout the 1990’s Dr. Ossorio also worked as a consultant for the federal program on the Ethical, Legal, and Social Implications (ELSI) of the Human Genome Project, and in 1994 she took a full time position with the Department of Energy’s ELSI program. In 1993 she served on the Ethics Working Group for President Clinton’s Health Care Reform Task Force.
She received her JD from the University of California at Berkeley School of Law in 1997. While at Berkeley she was elected to the legal honor society Order of the Coif and received several awards for outstanding legal scholarship.
Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). He is the third NHGRI director, having been appointed by NIH director Dr. Francis Collins in 2009.
Dr. Green has been at the Institute for more than 25 years, during which he has had multiple key leadership roles. He served as the Institute’s scientific director for 7 years, chief of the NHGRI Genome Technology Branch for 13 years, and founding director of the NIH Intramural Sequencing Center for 12 years.
For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes.
Dr. Green earned his M.D. and Ph.D. degrees in 1987 from Washington University in St. Louis; coincidentally, the word “genomics” was coined in that same year. During his career, Dr. Green has authored and co-authored over 370 scientific publications.
Dr. Amy McGuire is the Leon Jaworski Professor of Biomedical Ethics and Director of the Center for Medical Ethics and Health Policy. She received her BA in psychology from the University of Pennsylvania, summa cum laude, her JD from the University of Houston, summa cum laude, and her PhD, with distinction, from the Institute for Medical Humanities at University of Texas Medical Branch. Her research focuses on the clinical integration of emerging technologies, with a particular focus on ethical and policy issues in human genetics and genomic research. Dr. McGuire served as a member of the National Advisory Council for Human Genome Research from 2011-2015. She is currently on the program committee for the Greenwall Foundation Faculty Scholars Program in Bioethics and is president of the Association of Bioethics Program Directors. Her research is funded by the National Institutes of Health.
Studying America’s Eugenics Era through an ELSI Lens: Data, Context, and Relevance
Monday, June 15 from 11:45 am - 12:30 pm
Panelists: Natalie Lira, PhD; Nicole Novak, PhD, MSc; Elyse Thulin, MS; Alexandra Minna Stern, PhD
ABSTRACT
We present innovative interdisciplinary research on the history of eugenic sterilization in the 20th century US, with the objective of showcasing new approaches in methodology and dissemination, and connecting past examples of genetic stigmatization to contemporary bioethical questions. The presenters are part of the ELSI-funded research team that is building and analyzing datasets on eugenic sterilization in California, Iowa, North Carolina and Michigan. Our aggregate dataset includes nearly 35,000 cases–more than ½ of the national total–and reveals powerful patterns related to age, gender, race, disability, and diagnosis that illustrate how eugenic biases of defectiveness and abnormality played out on micro- and macro-levels.
Our presenters will discuss: (1) The history of state eugenic sterilization laws and our motivations for undertaking a multi-method investigation of this topic (2) our study design and analytic findings, including patterns in implementation of forced sterilization across population groups, across states, and over time, and (3) use of big data analytics to examine how social biases shaped patterns of sterilization performed under state eugenics laws. Lastly, (4) we will discuss digital humanities and data visualization as a strategy to disseminate findings to broader audiences including K-12. Our study offers new scholarly knowledge about the ways in which a particular variant of genetic determinism resulted in the widespread state-mandated deprivation of reproductive capacity. This work can serve as a backdrop for contemporary conversations about the extent to which conceptions of normality, disability, and genetic stigmatization can define norms and practices of disease prevention and human improvement.
BIOGRAPHIES
Dr. Natalie Lira is an Assistant Professor in the Department of Latina/Latino Studies at the University of Illinois at Urbana-Champaign. Her research uncovers the largely neglected racial aspects of California’s eugenic sterilization program by providing evidence of the disproportionate institutionalization and sterilization of Mexican-origin women and men in state hospitals for the disabled during the first half of the twentieth century. Mobilizing an interdisciplinary mix of feminist, critical racial, and historical lenses, Dr. Lira’s research illustrates how stereotypes of Mexican-origin women and men as mentally inferior, hypersexual, criminal and unfit for citizenship came together with emerging medical and scientific concepts of deviance, delinquency, and disability to justify institutionalization and reproductive constraint. Through statistical and discursive analyses of thousands of sterilization requests, consent forms, institutional publications, and social science theses her work shows how eugenic ideas about national and racial health, disability, and immigration determined the reproductive future of institutionalized populations. In addition to documenting Mexican-origin women and men’s experiences of institutionalization and sterilization, Dr. Lira’s research unearths the various ways Mexican-origin patients and their families challenged institutional authorities and sought to prevent sterilization. In doing so, her work figures Mexican-origin women and men’s experiences of reproductive constraint, institutionalization, and their anti- sterilization efforts as central to twentieth-century histories of racial and reproductive struggles.
Dr. Nicole Novak is an Assistant Research Scientist in Community and Behavioral Health at the University of Iowa College of Public Health. She uses epidemiologic and community-engaged research methods to examine historical, structural and policy influences on the health of immigrants, Latinos and rural residents. She has particular interests in reproductive and perinatal health.
Elyse Thulin is a doctoral student in the Health Behavior Health Education Department at the University of Michigan. Elyse received her master’s from Duke University in Global Health, and a dual BA in Psychology and Anthropology from Johns Hopkins University. Her research and work background in early childhood and adolescent development in the United States, Kenya and Sierra Leone led to her interest in working with the Prevention Research Center (PRC). She is involved in PRC research projects on adolescent violence exposure, sexual health, and community development through environmental design.
Professor Alexandra Minna Stern is Associate Dean for the Humanities - Academic Affairs - Office of the Dean; Professor of American Culture, Professor in History, Women’s Studies, and Obstetrics and Gynecology; Director of the Sterilization and Social Justice Lab; Carroll Smith-Rosenberg Collegiate Professor of History, American Culture and Women’s Studies at the University of Michigan.
My research has focused on the history of eugenics, genetics, society, and justice in the United States and Latin America. Through these topics, I have explored the dynamics of gender, sexuality, race, ethnicity, disability, social difference, and reproductive politics. I believe that historical research and analysis can provide important coordinates for understanding and navigating contemporary dilemmas in health, especially when it comes to reproductive health and genetic technologies. My recent book, Proud Boys and the White Ethnostate (2019), applies the lenses of historical analysis, feminist studies, and critical race studies to deconstructing the core ideas of the alt-right and white nationalism.
Polygenic Risk Scores & Behavioral Traits: Interrogating the Science & Ethics
Monday, June 15 from 1:30 - 2:15 pm
Speakers: Dalton Conley, PhD; Steve Hyman, MD; Michelle Meyer, JD, PhD; Moderator: Paul Appelbaum, MD
ABSTRACT
The development and aggregation of huge datasets of genomic information, often including hundreds of thousands of participants, has enabled large-scale genome-wide association studies (GWAS) of a variety of phenotypes. Although much of this work has focused on medical conditions, increasing effort is going into analyses of behavioral phenotypes (e.g., same-sex sexual behavior) and social outcomes (e.g., educational attainment, income). These studies evoke a variety of concerns that are the focus of this session. This session will begin with an overview by Dalton Conley of the construction of polygenic risk scores (PRS), then move into discussion of their application to social traits. He will illustrate this with a description of recent work using polygenic scores for educational attainment, including the development of predictive models and their limits. Use of polygenic scores in the social sciences, however, goes beyond predictive models, and Prof. Conley will explain how they can be employed to increase the validity of analyses of the impact of social variables.
Next, Steve Hyman will describe reasons for skepticism about some of the ways in which polygenic scores are being applied and interpreted. He will explain the basis for that skepticism in the science of polygenic risk, including the difficulty of applying scores developed from one population group to other groups not well-represented in the reference set, and the intrinsic relationship between genetic and social influences on outcomes. Prof. Hyman will also describe the ELSI issues that arise from generation of polygenic scores for abnormal behavioral conditions. The session will conclude with time for comments and discussion from the audience.
Lastly, Michelle Meyer will describe the ELSI questions that arise in particular from the application of polygenic scores to behavioral and social outcomes. These include research ethics issues, illustrated by use of data from the U.K. Biobank; questions about distinctions between health-related and non-health-related studies with polygenic scores; and issues regarding consent. Prof. Meyer will present highlights from findings from studies conducted by Geisinger’s biobank and the Estonian biobank on public views about the legitimacy of using biobank data for development of polygenic scores on a variety of behavioral and social outcomes.
BIOGRAPHIES
Dalton Conley is the Henry Putnam University Professor in Sociology and a faculty affiliate at the Office of Population Research and the Center for Health and Wellbeing. He is also a Research Associate at the National Bureau of Economic Research (NBER), and in a pro bono capacity he serves as Dean of Health Sciences for the University of the People, a tuition-free, accredited, online college committed to expanding access to higher education.
Conley’s scholarship has primarily dealt with the intergenerational transmission of socioeconomic and health status from parents to children. This focus has led him to study (among other topics): the impact of parental wealth in explaining racial attainment gaps; the causal impact of birthweight (as a heuristic for the literal overlap of the generations) on later health and educational outcomes; sibling differences that appear to reflect the triumph of achievement over ascription (but which may, in fact, merely reflect within-family stratification processes); and, finally, genetics as a driver of both social mobility and reproduction.
He earned a M.P.A. in Public Policy (1992) and a Ph.D. in Sociology (1996) from Columbia University, and a Ph.D. in Biology from NYU in 2014. His books include Being Black, Living in the Red; The Starting Gate; Honky; The Pecking Order; You May Ask Yourself; Elsewhere, USA; Parentology; and The Genome Factor. He has been the recipient of Guggenheim, Robert Wood Johnson Foundation and Russell Sage Foundation fellowships as well as a CAREER Award and the Alan T. Waterman Award from the National Science Foundation. He is an elected fellow of the American Academy of Arts and Sciences and an elected member of the National Academy of Sciences.
Steven E. Hyman is a Harvard University Distinguished Service Professor of Stem Cell and Regenerative Biology and a Core Institute Member of the Broad Institute of Harvard and MIT, where he directs the Stanley Center for Psychiatric Research. The Stanley Center engages in large-scale, globally conducted studies of neuropsychiatric genetics, stem cell biology, neurobiology, and technology development in support of translational efforts focused on reducing the global burden of psychiatric disorders.
Hyman also serves as chair of the board of Charles A. Dana Foundation, which supports research and education in neuroscience. In addition, he is a Director of the Charles H. Revson Foundation, of the Wyss Center for Bio and Neuroengineering (Geneva, Switzerland) and of the nonprofit scientific publisher Annual Reviews Inc. In the private sector, he is a Director of Voyager Therapeutics and Q-State Biosciences and serves on the scientific advisory boards of Janssen Pharmaceuticals, BlackThorn Therapeutics, and F-Prime Capital.
From 2001 to 2011 Hyman served as Provost of Harvard University, the university’s chief academic officer. From 1996 to 2001, he served as Director of the U.S. National Institute of Mental Health (NIMH), where he emphasized investment in neuroscience and emerging genetic technologies. He also initiated a series of large practical clinical trials to inform practice.
Hyman has served as President of the Society for Neuroscience (2015), President of the American College of Neuropsychopharmacology (2018), founding President of the International Neuroethics Society (2008-2013), and Editor of the Annual Review of Neuroscience (2002-2016). He is a fellow of the American Academy of Arts and Sciences, a fellow of the American Association for the Advancement of Science, and a member of the National Academy of Medicine, where he served on the governing Council (2012-2018) and which he represented on the Governing Board of the National Research Council, the operating arm of the US National Academies of Sciences, Engineering, and Medicine (2016-2019). From 2012-2018 Hyman chaired the Forum on Neuroscience and Nervous System Disorders of the US National Academies, which brings together industry, government, foundations, patient groups, and academia. In 2016, he was awarded the Rhoda and Bernard Sarnat International Prize in Mental Health by the National Academy of Medicine.
Hyman received his B.A., summa cum laude, from Yale College, an M.A. from the University of Cambridge, which he attended as a Mellon fellow studying History and Philosophy of Science, and an M.D., cum laude, from Harvard Medical School.
Michelle N. Meyer is an Assistant Professor and Associate Director, Research Ethics, in Geisinger’s Center for Translational Bioethics and Health Care Policy. She chairs the IRB Leadership Committee and directs the Research Ethics Advice and Consulting Service and the Meyer Lab, which uses experimental and other methods to empirically investigate ethical, legal, and social aspects of science and health care.
Dr. Meyer’s research interests focus on the legal, bioethical, and policy issues that arise in the conduct of research and other learning activities (e.g., QA/QI). In particular, she has written and spoken about learning healthcare systems and the ethical imperative to study the consequences of policies and practices; the role of IRBs and alternative bodies and processes for overseeing research and other learning activities; informed consent effectiveness in research (and in clinical contexts); data privacy and data sharing; responsible science communication; and reproducibility in science.
She is also interested in genetics/genomics, where she has written about return of results, genetic privacy and property, genetic discrimination, the ethics of behavioral genetics research, and “reprogenethics” (e.g., prenatal testing, preimplantation genetic diagnosis, genetic modification). In addition to reprogenethics, she is also interested in abortion law and in the legal and ethical issues that arise when a living pregnant woman is not present during reproduction (for instance, disputes over control of frozen embryos and over posthumous pregnancy).
Finally, Dr. Meyer is broadly interested in the implications of behavioral science for law, bioethics, and policy. For example, she studies ways in which status quo and other biases by providers, administrators, and patients may constitute an obstacle to implementing a learning healthcare system.
Dr. Meyer currently sits on the American Psychological Association (APA)’s Commission on Ethics Processes, the Board of Directors of Open Humans Foundation (formerly PersonalGenomes.org), a nonprofit organization that has developed novel ways of managing the ethical, legal, and technical aspects of creating open access repositories of highly identifiable human genomic data like the Personal Genome Project; and the Advisory Board of the Social Science Genetic Association Consortium, which conducts large GWAS of social science traits like educational attainment and subjective wellbeing.
Dr. Meyer earned a Ph.D. in religious studies, with a focus on applied ethics, from the University of Virginia under the supervision of James F. Childress and a J.D. from Harvard Law School, where she was an editor of the Harvard Law Review and a founding co-editor of the Harvard Law Review Forum. Following law school, she clerked for Judge Stanley Marcus of the U.S. Court of Appeals for the Eleventh Circuit. She graduated summa cum laude from Dartmouth College, where she studied religious studies, philosophy, and creative nonfiction.
Dr. Appelbaum is the Elizabeth K. Dollard Professor of Psychiatry, Medicine, and Law, and Director, Center for Law, Ethics, and Psychiatry, Department of Psychiatry, Columbia University. He directs Columbia’s Center for Research on Ethical, Legal, & Social Implications of Psychiatric, Neurologic, & Behavioral Genetics. The author of many articles and books on law and ethics in clinical practice and research, Dr. Appelbaum is a Past President of the American Psychiatric Association and chairs the DSM Steering Committee. A graduate of Columbia College and Harvard Medical School, he has been elected to the National Academy of Medicine.
New Models for Ethical AI in Precision Medicine: Empirical and Normative ELSI Inquiry
Monday, June 15 from 3:00 – 3:45 pm
Panelists: Pamela Sankar, PhD; David Magnus, PhD; Ariadne Nichol, BA; Mildred Cho, PhD
ABSTRACT
The convergence of genomics, information sciences and Electronic Health Records is a main driver of precision medicine (PM). A common feature of definitions of PM is the use of big data for prediction or classification of groups of people for treatment, diagnosis, or prognosis. Achieving the vision of PM, with its vast data requirements, relies on the success of artificial intelligence (AI), especially for the predictive analytics needed. There are three distinctive features of AI in PM that motivate the need for ELSI inquiry: 1) The process of developing AI for PM is technically and organizationally complex, requiring acquisition of data from multiple sources and multiple types of expertise, including software engineers and computer scientists who are not familiar with the regulatory and ethical frameworks that guide medicine. 2) Sources of systematic bias in AI models for PM have been identified, but responsibility for preventing discriminatory decision-making and action on the basis of biased AI is not established. 3) Developers and users of AI for PM have divergent interests and needs. Since one of the stated goals of PM is to reduce healthcare costs, such interests can conflict with patient interests and negative effects are difficult to mitigate because of the opacity and lack of clear lines of responsibility for uses of AI. Panelists will draw from recent empirical studies of AI development and normative analysis to propose new models for data access and the process of AI development to enhance the production of ethical AI for precision medicine.
BIOGRAPHIES:
Pamela Sankar, Ph.D. is an Associate Professor in the Department of Medical Ethics & Health Policy at the University of Pennsylvania. She is also a Senior Fellow at the Leonard Davis Institute of Health Economics at the University of Pennsylvania. Dr. Sankar has a BA from the University of Michigan in History of Ideas. She began her graduate training in Anthropology and Communications at Boston University and completed her Ph.D. at the University of Pennsylvania. She pursued post-doctoral training in health services research at the University of Pennsylvania School of Medicine with a fellowship awarded by the Veteran's Administration. Dr. Sankar's research interests have included medical privacy and confidentiality, ethical and cultural implications of genetic research, research ethics, and genetics and race. Dr. Sankar's research and scholarship have been funded by the Ayer Foundation, the Greenwall Foundation, the Charles E. Culpeper Foundation, and National Institutes of Health.
David Magnus, PhD is Thomas A. Raffin Professor of Medicine and Biomedical Ethics and Professor of Pediatrics and Medicine at Stanford University, where he is Director of the Stanford Center for Biomedical Ethics and member of the Ethics Committee for the Stanford Hospital. He is currently the Vice-Chair of the IRB for the NIH Precision Medicine Initiative ("All of Us"). He is the former President of the Association of Bioethics Program Directors, and is the Editor in Chief of the American Journal of Bioethics. He has published articles on a wide range of topics in bioethics, including research ethics, genetics, stem cell research, organ transplantation, end of life, and patient communication. He was a member of the Secretary of Agriculture’s Advisory Committee on Biotechnology in the 21st Century and currently serves on the California Human Stem Cell Research Advisory Committee. He is the principal editor of a collection of essays entitled "Who Owns Life?" (2002) and his publications have appeared in New England Journal of Medicine, Science, Nature Biotechnology, and the British Medical Journal. He has appeared on many radio and television shows including 60 Minutes, Good Morning America, The Today Show, CBS This Morning, FOX news Sunday, and ABC World News and NPR. In addition to his scholarly work, he has published Opinion pieces in the Philadelphia Inquirer, the Chicago Tribune, the San Jose Mercury News, and the New Jersey Star Ledger.
Ariadne Nichol is a researcher at the Stanford Center for Biomedical Ethics. She earned her bachelors degree in Human Biology from Stanford University, where she graduated with Honors in Ethics in Society and was a Public Service Scholar. She has previously worked on global public health research ethics topics at Doctors Without Borders and at the World Health Organization (WHO). Her work has been published in the American Journal of Bioethics. Her areas of interest include ethical issues of biomedical research in vulnerable populations; ethical challenges associated with emerging infectious diseases; as well as ethical and social issues raised by application of big data and machine learning in health care and pharmacogenetics.
Dr. Cho is Professor (Research) in Pediatrics at the Center for Biomedical Ethics, Professor (Research)in Medicine in Primary Care and Population Health, and Associate Director for Stanford Center for Biomedical Ethics at Stanford University.
She received her B.S. in Biology from the Massachusetts Institute of Technology and her Ph.D. from the Stanford University Department of Pharmacology. Her post-doctoral training was in Health Policy as a Pew Fellow at the Institute for Health Policy Studies at the University of California, San Francisco and at the Palo Alto VA Center for Health Care Evaluation. Before coming to Stanford, Dr. Cho was Assistant Professor of Bioethics in the Center for Bioethics and the Department of Molecular and Cellular Engineering at the University of Pennsylvania School of Medicine.
Dr. Cho's major areas of interest include ethical and social issues in genetic research, including those arising from gene therapy and editing, synthetic biology, microbiome research, the use of artificial intelligence to analyze genomic and medical data, the effects of gene patenting on clinical genetic testing and research, and the impacts of academic-industry ties on biomedical research.
CRISPR and Human Identity: Governing Germline Gene Editing
Tuesday, June 16 from 10:15 – 11:00 am
Speakers: Rosemarie Garland-Thomson, PhD; George Daley, MD, PhD; Bartha Knoppers, PhD; Moderator: Josephine Johnston, PhD
ABSTRACT
International uproar followed the announcement in late 2018 of the birth of twin girls whose genomes had been edited with CRISPR genome editing technology. Critics pointed not only to the health risks of the experiment, calling it “reckless,” but to the fact that the lead researcher had proceeded with germline editing in advance of a sought-after international consensus on its permissibility. Since then, He Jiankui and two of his collaborators have been fined and sentenced to prison, yet the international governance conversation seems to have moved from seeking consensus on difficult moral and ethical questions to accepting that different countries will approach this technology differently—and developing guidelines for those that decide to move germline editing forward. From this, one might conclude that CRISPR is less a challenge to our shared humanity than a powerful technology to be expertly shepherded into the clinic.
What role should ELSI research play in this rapidly developing space? Which questions should we be grappling with, and to what ends? Ought we continue to question whether germline modification represents a line that should not be crossed, or whether CRISPR raises unique or technology-specific moral questions and tensions? Should we instead use developments in genome editing as an opportunity to interrogate unjust and unequal systems within which this technology will operate? Or should we focus on ensuring that studies are ethically designed and conducted? What does good governance mean in this context and how can ELSI scholars work to advance it? This panel features a range of perspectives on genome editing and asks how the ELSI community can play a productive—and perhaps provocative—role, in its development going forward.
BIOGRAPHIES
Rosemarie Garland-Thomson, PhD
Rosemarie Garland-Thomson is a disability justice and culture thought leader, bioethicist, teacher, and humanities scholar. Her 2016 editorial, “Becoming Disabled,” was the inaugural article in the ongoing weekly series in the New York Times about disability by people living with disabilities. She is a professor of English and bioethics at Emory University, where she teaches disability studies, bioethics, American literature and culture, and feminist theory. Her work develops the field of critical disability studies in the health humanities to bring forward disability access, inclusion, and identity to a broad range of institutions and communities. She is co-editor of About Us: Essays from the New York Times about Disability by People with Disabilities (forthcoming) and the author of Staring: How We Look and several other books. Her current project is Embracing Our Humanity: A Bioethics of Disability and Health.
George Q. Daley, dean of Harvard Medical School and the Caroline Shields Walker Professor of Medicine at HMS, is an internationally recognized leader in stem cell science and cancer biology. He is also a longtime member of the HMS faculty whose work spans the fields of basic science and clinical medicine.
Daley’s research focuses on the use of mouse and human disease models to identify mechanisms that underlie blood disorders and cancer. His lab aims to define fundamental principles of how stem cells contribute to tissue regeneration and repair and improve drug and transplantation therapies for patients with malignant and genetic bone marrow disease.
Beyond his research, Daley has been a principal figure in developing international guidelines for conducting stem cell research and for the clinical translation of stem cells, particularly through his work with the International Society for Stem Cell Research, for which he has served in several leadership positions, including president (2007-08). He has also testified before Congress and spoken in forums worldwide on the scientific and ethical dimensions of stem cell research and its promise in treating disease.
After earning his bachelor's degree magna cum laude from Harvard in 1982, Daley went on to earn his PhD in biology (1989) at MIT, working in David Baltimore’s laboratory at the MIT-affiliated Whitehead Institute for Biomedical Research. He received his MD from HMS, graduating in 1991 with the rare distinction of summa cum laude. He then pursued clinical training in internal medicine at Mass General and was a clinical fellow at Brigham and Women’s and Boston Children’s hospitals. While running a laboratory as a Whitehead Fellow at the Whitehead Institute, he joined the HMS faculty as an assistant professor in 1995. He was promoted to associate professor in 2004, was named to an endowed chair at Boston Children’s in 2009 and became a full professor at HMS in 2010. He is an elected member of the National Academy of Medicine and the American Society for Clinical Investigation, among other professional societies.
Bartha Maria Knoppers, PhD (Comparative Medical Law), is a Full Professor, Canada Research Chair in Law and Medicine and Director of the Centre of Genomics and Policy of the Faculty of Medicine at McGill University. She was the Chair of the Ethics and Governance Committee of the International Cancer Genome Consortium (2009-2017). She is currently Chair of the Ethics Advisory Panel of WADA (2015- ), and is Co-Chair of the Regulatory and Ethics Workstream of the Global Alliance for Genomics and Health (2013- ). In 2015-2016, she was a member of the Drafting Group for the Recommendation of the OECD Council on Health Data Governance and gave the Galton Lecture in November 2017. She holds four Doctorates Honoris Causa and is a Fellow of the American Association for the Advancement of Science (AAAS), the Hastings Center (bioethics), the Canadian Academy Health Sciences (CAHS), and, the Royal Society of Canada. She is also an Officer of the Order of Canada and of Quebec, and was awarded the 2019 Henry G. Friesen International Prize in Health Research and was appointed to the International Commission on the Clinical Use of Human Germline Genome Editing.
Her research areas include: governance, genomic medicine, human rights, paediatrics, stem cell research, biomedical ethics, privacy, medical law, comparative medical law and policy.
Josephine Johnston, Director of Research, Research Scholar at The Hastings Center, is an expert on the ethical, legal, and policy implications of biomedical technologies, particularly as used in human reproduction, psychiatry, genetics, and neuroscience. In addition to numerous scholarly publications, her commentaries have appeared in Stat News, The New Republic, Time, Washington Post, and The Scientist. Ms. Johnston is interviewed frequently by the media, appearing in the New York Times, Wall Street Journal, the Guardian, Wired, and Vice Media and on ABC’s “Nightline.”
Ms. Johnston’s current projects address the ethical implications of new kinds of prenatal genetic tests, the relationship between gene editing technologies and understandings of human flourishing, and, with colleagues at University of California, San Francisco, the potential use of genetic sequencing technology in newborns. She is also a member of Columbia University Medical Center’s Center for Excellence in Ethical, Legal and Social Implications looking at psychiatric, neurologic and behavioral genetics. In addition, Johnston has, with colleagues at Kent Place School, developed a Hastings Center-style research program for high school students.
Josephine Johnston is a New Zealand-trained lawyer with a master’s degree in bioethics and health law from the University of Otago. She joined the staff of The Hastings Center as a research scholar in 2003 and became director of research in 2012. Prior to coming to Hastings Center, Ms. Johnston worked as a bioethics researcher at Dalhousie University and the University of Minnesota. She has also worked as a lawyer in both New Zealand and Germany.
Engaging Participants as Partners: ELSI Considerations in Large-Scale Precision Medicine Research
Tuesday, June 16 from 1:30 - 2:15 pm
Panelists: Alecia M. Fair, DrPH; Karriem Watson, DHS, MS, MPH; Elizabeth Cohn, RN, PhD; Consuelo Wilkins, MD, MSCI
ABSTRACT
To be relevant and impactful, it has become increasingly necessary for researchers to engage stakeholders outside the usual research communities, such as patients and community representatives. Yet, this type of engagement typically occurs in community-based participatory and patient-centered outcomes research, not large-scale genomics or precision medicine research. The All of Us Research Program, which will enroll at least 1 million participants from diverse backgrounds, has committed to actively engaging its participants as partners in all aspects of the program – from research design through governance. With guiding principles on privacy and trust and a mission to empower participants, All of Us intends to promote transparency, reciprocity and involvement of participant communities in the governance, oversight, design, implementation and evaluation of the program. This engaged and participant-centric approach represents a substantial shift in large biomedical research initiatives, which until recently had little, if any, public involvement. In this panel, we will discuss lessons learned by the All of Us Engagement Core in developing the infrastructure, tools and resources to meaningfully engage participants as partners. We will highlight important ELSI considerations related to: 1) identifying and selecting a diverse group of participants to engage in governance; 2) effectively engaging participants in these new roles; 3) assessing the impact of participant engagement on the research; and 4) preparing researchers, including those with limited experience in engagement, to work with participants in these roles.
BIOGRAPHIES
As a Research Assistant Professor of Medicine, at the Meharry-Vanderbilt Alliance, Vanderbilt University Medical Center, Dr. Fair is involved in PCORI-funded community engaged research on provider motivations to participate in the Mid-South Clinical Data Research Network. She also serves as the project manager of the Advancing the Science of Community Engaged Research conference and is a program manager of the Precision Medicine & Health Disparities Collaborative (PMHDC) Training & Mentoring Core, a U54 Center of Excellence award with MMC, VUMC and the University of Miami.
Dr. Fair received her DrPH in Health Promotion and Education from the University of South Carolina, Columbia. In graduate school, she studied lifestyle and cultural factors related to obesity tolerance in African-American adolescents. She completed her Department of Defense funded postdoctoral cancer epidemiology fellowship on the role of energy balance on breast cancer risk under Dr. Wei Zheng at Vanderbilt University Medical Center (VUMC).
Associate Executive Director Mile Square Health Center UI Health; Associate Director Community Outreach and Engagement UI Cancer Center at UIC; Research Assnt. Professor, UIC School of Public Health Community Health Sciences
Dr. Karriem S. Watson is a research scientist with the University of Illinois Cancer Center and the Director of the Office of Community Engaged Research and Implementation Science (OCERIS) for the UI Cancer Center and the Mile Square Health Center, a group of Federally Qualified Health Clinics (FQHCs) affiliated with the University of Illinois Hospital and Health Sciences System. Dr. Watson has a Doctorate in Health Science (Global Health), a Master of Science in Basic Medical Research, and a Master’s in Public Health (Community Health Sciences). His work with OCERIS supports the UI Cancer Center by fostering community and academic partnerships and supporting research and training conducted at the community level. The UI Cancer Center has become one of the country’s first community-focused cancer centers by fostering access to and awareness of community-based cancer screening, education, prevention services, survivorship support, and clinical trial engagement. He sits on several national and local boards dedicated to strengthening community capacity as well as youth development to foster the interest of young people in science, research and health care careers. His contributions earned him recognition by the Chicago Urban League as an “Innovator in STEM.”
Elizabeth Cohn, PhD, RN, NP, FAAN
Dr. Cohn is the Rudin Professor of Nursing and Interim Associate Dean for Research Hunter College at The Graduate Center CUNY, and an Adjunct Associate Research Scientist in the Irving Institute for Clinical and Translational Research at Columbia University Irving Medical Center. Dr. Cohn received her PhD in Nursing from Columbia University and her BSN/MSN in Nursing from the State University of New York at Stony Brook.
Her research interests include health equity, genomic medicine and precision health, health disparities in under-represented populations rural and urban populations, the intersection of health and social science with practical utility in everyday life, and the Ethical, Legal and Social Issues of genetics and genomics in minority health. Dr. Cohn's research focuses on urban and rural populations, community based and community-engaged research, mentoring of under-represented students and faculty, empowering communities to develop citizen scientists, and partnering communities with academic institutions.
Dr. Consuelo H. Wilkins is the Executive Director of the Meharry-Vanderbilt Alliance, a strategic partnership between Meharry Medical College and Vanderbilt University Medical Center. Her primary responsibilities include developing and supporting collaborative initiatives and programs in biomedical research, community engagement, and interprofessional learning. She serves as Vice President for Health Equity at Vanderbilt University Medical Center and Associate Dean for Health Equity with the Vanderbilt University School of Medicine, and holds appointments as Professor of Medicine at Vanderbilt University Medical Center and Associate Professor of Medicine at Meharry Medical College. As co-director of the Meharry-Vanderbilt Community-Engaged Research Core in the Vanderbilt Institute for Clinical and Translational Science, she brings together academic researchers and community members to improve community health and healthcare through community-engaged research. Dr. Wilkins is widely recognized for her work in stakeholder engagement and is Principal Investigator of a Patient Centered Outcomes Research Institute (PCORI) Research Award focused on Improving Patient Engagement and Understanding Its Impact on Research.
Dr. Wilkins’ prior research has focused on understanding the complex intersection between cognitive impairment, frailty, and depression. Prior to joining the faculty at Vanderbilt University Medical Center in 2012, Dr. Wilkins was an Associate Professor in the Department of Medicine, Division of Geriatrics, with secondary appointments in Psychiatry and Surgery (Public Health Sciences) at Washington University School of Medicine in St. Louis. She served as Founding Director of the Center for Community Health and Partnerships in the Institute for Public Health, co-director of the Center for Community Engaged Research in the CTSA, and director of "Our Community, Our Health"- a collaborative program with Saint Louis University to disseminate culturally relevant health information and facilitate community-academic partnerships to address health disparities.
Dr. Wilkins earned a Bachelor of Science in microbiology (magna cum laude, Phi Beta Kappa) and a Doctor of Medicine from Howard University. She completed residency training in Internal Medicine at Duke University Medical Center and a Geriatric Medicine fellowship at Washington University School of Medicine/Barnes-Jewish Hospital. Following her medical training, Dr. Wilkins earned a Master of Science in Clinical Investigation from Washington University School of Medicine.
Ethical Frameworks for Research Collaboration with Indigenous Communities
Tuesday, June 16 from 1:30 - 2:15 pm
Speakers: Chief Lynn Malerba, DNP, MPA; Nanibaa’ Garrison, PhD; Katrina Claw, PhD; Moderator: Vanessa Hiratsuka, PhD
ABSTRACT
Research with Alaska Native and American Indian people has a complex history. American Indian and Alaska Native peoples, are both a racial classification and less known to most Americans, a political designation. American Indian and Alaska Native tribes are sovereign nations with an inherent right to self-determination, including determination of how and what kind of research will be conducted in their communities. Transgressions in the ethical conduct of research have ranged from failures to be inclusive and transparent, share research results and other benefits, or respect group and individuals’ rights and confidentiality to engaging in research that stigmatizes ANAI people and violates cultural values. Due to research harms that have occurred within genetic studies and health studies in general, many ANAI communities are understandably skeptical of participating in health research generally and genetic research specifically. As genetic research continues to advance, it has been suggested that there is an imperative to include ANAI communities to avoid widening health disparities. Panelists will discuss cultural and ethical frameworks for conducting research with Indigenous people and examples of community engaged genomic research with Alaska Native and American Indian people.
BIOGRAPHIES
Chief Mutáwi Mutáhash (Many Hearts) Marilynn “Lynn” Malerba is the 18th Chief of the Mohegan Tribe; the first female Chief in the tribe’s modern history. She follows her mother, Loretta Roberge who served on Tribal Council and her Great Grandfather Chief Matagha in tribal leadership. Prior to becoming Chief, she served as Chairwoman of the Tribal Council, and served in Tribal Government as Executive Director of Health and Human Services. Lynn had a lengthy career as a registered nurse ultimately as the Director of Cardiology and Pulmonary Services at Lawrence & Memorial Hospital. She earned a doctor of Nursing Practice at Yale University, named a Jonas Scholar. She was awarded an honorary Doctoral degree in Science from Eastern Connecticut State University and an honorary Doctoral degree in Humane Letters from the University of St. Joseph in West Hartford, CT.
She chairs the Tribal Self-Governance Advisory Committee of the Federal Indian Health Service (IHS), is a member of: the Justice Department’s Tribal Nations Leadership Council, the Tribal Advisory Committee for the National Institute of Health, and the Treasury Tribal Advisory Committee. She serves as the United South and Eastern Tribes Board of Directors Secretary.
Dr. Nanibaa’ Garrison (Navajo) is an Associate Professor at the University of California, Los Angeles. She has appointments in the Institute for Society and Genetics, the Institute for Precision Health, and the Division of General Internal Medicine & Health Services Research. She is a teaching faculty for the UCLA genetic counseling master’s program.
Dr. Garrison earned her Ph.D. in genetics at Stanford University, and completed a postdoctoral fellowship in bioethics at the Stanford Center for Biomedical Ethics and the Center for Integration of Research on Genetics & Ethics at Stanford University. Prior to coming to UCLA, Dr. Garrison was an Assistant Professor at Vanderbilt University, University of Washington and Seattle Children’s Research Institute.
Dr. Garrison is the recipient of an NIH K01 career development award to explore perspectives of tribal leaders, physicians, scientists, and policy makers on genetic research with tribes. Her research focuses on the ethical, social, and cultural implications of genetic and genomic research in Indigenous communities. Using community-based research approaches, she engages with tribal communities to develop policies and guidance for tribes.
Dr. Katrina Claw, a member of the Diné (Navajo) tribe, is an Assistant Professor at the University of Colorado Anschutz Medical Campus in the Division of Biomedical Informatics and Personalized Medicine. Her research program focuses on personalizing medicine, using genetic information and biomarkers for tailored treatment. Her primary research interests focus on pharmacogenomics and the ethical, social, and legal (ELSI) implications of genomic research with American Indian/Alaska Native and other Indigenous communities around the world. Dr. Claw’s current research focuses on hepatic genetic variation, tobacco cessation and nicotine metabolism, and examining the perspectives of genomic research in Native communities. Dr. Claw grew up on the Navajo Nation, and she obtained her BS in biology and BA in anthropology at Arizona State University; her PhD in genome sciences at the University of Washington in Seattle, WA in 2013. Dr. Claw continued as a postdoctoral research fellow at the University of Washington with the Northwest Alaska Pharmacogenomics Research Network.
Dr. Hiratsuka (Diné/ Winnemem Wintu) is a public health researcher with over 19 years of mixed methods research experience within the Alaska tribal health system. She received a bachelor’s degree in human biology from Stanford University, a master’s degree in public health practice from the University of Alaska Anchorage, and a doctoral degree in public health from Walden University. Her community engagement work has spanned regional, national, and international efforts. She has extensive experience coaching and mentoring community and university-based researchers and practitioners in ethical, social, and legal implications of genomic research and clinical and translational research in tribal health settings. She is currently a Research Professional with the University of Alaska Anchorage Center for Human Development.
To Catch a Killer: Law Enforcement Uses of DNA Databases
Tuesday, June 16 from 3:00 – 3:45 pm
Speakers: James Hazel, JD, PhD; Jennifer Wagner, JD, PhD; Christi Guerrini, JD, MPH; Amy McGuire, JD, PhD
ABSTRACT
In 2018, law enforcement identified a suspect in the Golden State Killer case by matching the genomic profile of DNA left at crime scenes to those held in public databases and by using inferred ancestral relationships and genealogical mapping to generate promising investigative leads. Since then, hundreds of cold cases have been solved by applying similar investigative strategies. This panel will explore the ELSI implications of law enforcement access to DNA data collected and shared primarily for non-forensic purposes. Amy McGuire will moderate the session, introduce the topic, and summarize ethical and legal considerations on both sides of the debate. James Hazel will argue that it is time to create a hierarchy of DNA databases with different inclusion, access, and security criteria. To illustrate this point, he will compare research databases such as All of Us and dbGaP with forensic databases such as CODIS and will ultimately propose a universal forensic database. Jennifer Wagner will discuss questions of legality by outlining the contours of genetic privacy in the United States and limitations on law enforcement imposed by the Fourth Amendment. She will then explore proposed solutions to strengthen genetic privacy and establish parameters for acceptable law enforcement use of investigative genealogy. Christi Guerrini will argue that public opinion is critical and report data from a survey of 1,587 individuals to assess their perspectives on forensic use of genetic genealogy databases.
BIOGRAPHIES
James W. Hazel, Ph.D., J.D. is a postdoctoral fellow at the Center for Genetic Privacy and Identity in Community Settings (GetPreCiSe) at Vanderbilt University Medical Center. His current research centers on developing a better understanding of the ethical, legal, and social implications of emerging technologies, with a focus on the direct-to-consumer genetic testing industry and the privacy policies governing the collection, use, and, sharing of genetic data. Dr. Hazel’s research has appeared in academic journals including Science, Genetics, and the Cornell Journal of Law and Public Policy, and has been cited by popular media outlets such as the Wall Street Journal, the Washington Post, Bloomberg News, and Business Insider. He holds a law degree (J.D.) from Vanderbilt University Law School and a Ph.D. in Molecular Biology from the University of Wyoming, where his doctoral research focused on the mitotic spindle, the target of many chemotherapeutic cancer drugs.
Dr. Wagner’s research is multidisciplinary and focused at the intersections of anthropology, genetics, law, and bioethics. During her post-doctoral research appointments at the Duke University Institute for Genome Sciences & Policy and the University of Pennsylvania Center for the Integration of Genetic Healthcare Technologies, she focused on ethical, legal, and social implications of genetic technologies with particular interest in the ways in which personal genetics could be used to mitigate racial disparities in health and justice. Her recent research covers three main areas: DNA ancestry testing, sports applications of personal genetics, and genetic rights as human rights. Research topics she explores include the ways in which ancestry and appearance affect identity, experiences of discrimination, and implicit prejudices; access, sharing, and privacy of personal genetic information; the medicalization of the human genome and its policy implications; perspectives on DNA identification technologies and their utility in law enforcement, immigration, and other non-medical contexts; limitations of the Genetic Information Nondiscrimination Act; separation of powers issues related to government oversight of genetic/omics and mobile health technologies; and engagement of individuals and communities for research (including consent, research design, and implementation).
Christi Guerrini is an Assistant Professor in the Center for Medical Ethics and Health Policy at the Baylor College of Medicine where she teaches and conducts research at the intersection of law, innovation, health, and ethics. Professor Guerrini received a four-year K01 award from the National Human Genome Research Institute to study ownership interests in citizen science. She also currently serves as an affiliated researcher at the University of Houston Law Center’s Institute for Intellectual Property and Information Law. Professor Guerrini serves on the Committee of Correspondence on Forensic Genealogy to the Scientific Working Group on DNA Analysis Methods (SWGDAM) and the Ethics Working Group of the Citizen Science Association. She also recently served as a consultant to the National Academies of Sciences, Engineering, and Medicine's Committee on the Return of Individual-Specific Research Results Generated in Research Laboratories. Professor Guerrini received her J.D. from Harvard Law School and M.P.H. from The University of Texas School of Public Health. She graduated Phi Beta Kappa with Highest Honors from the University of Virginia, where she received her B.A.
Dr. McGuire is the Leon Jaworski Professor of Biomedical Ethics and Director of the Center for Medical Ethics and Health Policy at the Baylor College of Medicine. She received her BA in psychology from the University of Pennsylvania, summa cum laude, her JD from the University of Houston, summa cum laude, and her PhD, with distinction, from the Institute for Medical Humanities at University of Texas Medical Branch. Her research focuses on the clinical integration of emerging technologies, with a particular focus on ethical and policy issues in human genetics and genomic research. Dr. McGuire served as a member of the National Advisory Council for Human Genome Research from 2011-2015. She is currently on the program committee for the Greenwall Foundation Faculty Scholars Program in Bioethics and is president of the Association of Bioethics Program Directors. Her research is funded by the National Institutes of Health.