We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical (...) features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved. (shrink)

Contemporary biomedical ethics and environmental ethics share a common ancestry in Aldo Leopold's and Van Rensselaer Potter's initial broad visions of a connected biosphere. Over the past five decades, the two fields have become strangers. Public health ethics, a new subfield of bioethics, emerged from the belly of contemporary biomedical ethics and has evolved over the past 25 years. It has moved from its traditional concern with the tension between individual autonomy and community health to a wider focus on social (...) justice and solidarity. Public health has a broad focus that includes individual, community, and environmental health. Public health ethics attends to these broad commitments reflected in the increasing concern with the connectedness of health of individuals to the health of populations, to the health of animals, to the health of the environment; it is well situated to reconnect all three “fields” of ethics to promote a healthier planet. (shrink)

Confronting any science studies or learning sciences researcher in the 21st century is the reality of interdisciplinary science. New hybrid fields1 collaboratively build new concepts, combine models from two or more disciplines and forge inter-reliant relationships among specialists with different skill sets to solve new problems. This paper emerges from our recognition that inescapable psychological factors, including identity dynamics, must be described and analyzed in order to better understand the social and cognitive practices specific to interdisciplinary science. In analysis of (...) the foundations and opportunities for an... (shrink)

We historically and conceptually situate distributed cognition by drawing attention to important similarities in assumptions and methods with those of American ?functional psychology? as it emerged in contrast and complement to controlled laboratory study of the structural components and primitive ?elements? of consciousness. Functional psychology foregrounded the adaptive features of cognitive processes in environments, and adopted as a unit of analysis the overall situation of organism and environment. A methodological implication of this emphasis was, to the extent possible, the study (...) of cognitive and other processes in the natural (real world) contexts in which they occur. We therefore emphasize commonalities and differences between functional psychology and D-Cog. One purpose of the comparison is to consider the extent to which criticisms directed at functional psychology are relevant to D-Cog. We also examine the relation between functional psychology and philosophical pragmatism and conclude that D-Cog's conceptual framework would be strengthened through more explicit adoption of philosophical pragmatism, consistent with the eventual trajectory of functional psychology. (shrink)

The attempt to critique the profession of clinical ethics consultation by establishing the impossibility of ethics expertise has been a red herring. Decisions made in clinical ethics cases are almost never based purely on moral judgments. Instead, they are all-things-considered judgments that involve determining how to balance other values as well. A standard of justified decision-making in this context would enable us to identify experts who could achieve these standards more often than others, and thus provide a basis for expertise (...) in clinical ethics consultation. This expertise relies in part on what Richard Zaner calls the “expert knowledge of ethical phenomena”. (shrink)

For over 100 years, the field of contemporary public health has existed to improve the health of communities and populations. As public health practitioners conduct their work – be it focused on preventing transmission of infectious diseases, or prevention of injury, or prevention of and cures for chronic conditions – ethical dimensions arise. Borrowing heavily from the ethical tools developed for research ethics and bioethics, the nascent field of public health ethics soon began to feel the limits of the clinical (...) model and began creating different frameworks to guide its ethical challenges. Several public health ethics frameworks have been introduced since the late 1990s, ranging from extensions of principle-based models to human rights and social justice perspectives to those based on political philosophy. None has coalesced as the framework of choice in the discipline of public health. This paper examines several of the most-known frameworks of public health ethics for their common theoretical underpinnings and values, and suggests next steps toward the formulation of a single framework. (shrink)

Public health ethics is a nascent field, emerging over the past decade as an applied field merging concepts of clinical and research ethics. Because the “patient” in public health is the population rather than the individual, existing principles might be weighted differently, or there might be different ethical principles to consider. This paper reviewed the evolution of public health ethics, the use of bioethics as its model, and the proposed frameworks for public health ethics through 2010. Review of 13 major (...) public health ethics frameworks published over the past 15 years yields a wide variety of theoretical approaches, some similar foundational values, and a few similar operating principles. Coming to a consensus on the reach, purpose, and ends of public health is necessary if we are to agree on what ethical underpinnings drive us, what foundational values bring us to these underpinnings, and what operating principles practitioners must implement to make ethical decisions. If public health is distinct enough from clinical medicine to warrant its own set of ethical and philosophical underpinnings, then a decision must be made as to whether a single approach is warranted or we can tolerate a variety of equal but different perspectives. (shrink)

Despite increased interest in “intuition” within cognitive psychology, the conceptual framework of this notion remains problematic. This paper argues that conceptual shortcomings stem from a tendency to ignore the philosophical heritage of intuition or to dismiss the relevance of this heritage to contemporary theory. The paper outlines major understandings of intuition within psychology and prominent philosophical traditions, highlighting important points of inconsistency in these and examining consequences of the inconsistency. It also considers psychological conceptions of intuition that more readily overlap (...) with philosophical accounts and offers some suggestions toward a more philosophically informed notion of intuition relevant to contemporary psychological theory. (shrink)

The legitimacy of clinical ethics consultation is often implied to rest on the legitimacy of moral expertise. In turn, moral expertise seems subject to many serious critiques, the success of which implies that clinical ethics consultation is illegitimate. I explore a number of these critiques, and forward “ethics expertise,” as distinct from “moral expertise,” as a way of avoiding these critiques. I argue that “ethics expertise” succeeds in avoiding most of the critiques, captures what clinical ethics consultants might justifiably do, (...) and expresses a subject matter which can be taught and assessed. (shrink)

A major obstacle to broad support of clinical ethics consultation is suspicion regarding the nature of the moral expertise it claims to offer. The suspicion seems to be confirmed when the field fails to make its moral expertise explicit. In this vacuum, critics suggest the following:Clinical ethics consultation's legitimacy depends on its ability to offer an expertise in moral matters.Expertise in moral matters is knowledge of a singular moral truth which applies to everyone.The claim that a clinical ethics consultant can (...) offer knowledge of a singular moral truth in virtue of her professional training is absurd, false, or gravely immoral.Therefore,The field is illegitimate. (shrink)

Abram Brummett and Christopher Ostertag offer critiques of my argument that clinical ethics consultants have expertise but are not “ethics experts”. My argument begins within our less-than-ideal world and asks what a justification of a clinical ethics consultation recommendation might look like under those conditions. It is a challenge to what could be called an “inflationary” position on ethics expertise that requires agreement on or rational proof of metaethical facts about the values at stake in clinical ethics consultation. Brummett and (...) Ostertag critique three distinct steps in the argument. Two of those I have a brief answer for, and an assessment of the third demonstrates that Brummett and Ostertag do not consider the premise upon which I based my account. Instead, they assert a counter-premise without argument, which at best results in a stalemate between our two accounts. However, the reasons supporting my premise still seem to me to be stronger, so I am in the end unconvinced by their critiques. (shrink)

Teaching competency in bioethics has been a concern of the field since its start. In 1976, The Hastings Center published the first report on the teaching of contemporary bioethics. Graduate programs culminating in an MA or PhD were not needed at the time, concluded the report. “In the future, however,” the report speculated, “the development and/or changing social priorities may at some point allow, or even require, the creation of new academic structures for graduate education in bioethics.” Although that future (...) might be upon us, the creation of a terminal degree in bioethics has its detractors. Scholars have debated whether bioethics is a discipline with its own methods and theoretical grounding, a multidisciplinary field bringing various professional perspectives to bear on particular types of problems, a set of problem-solving skills to resolve moral disagreements, or something else entirely. Whether or not efforts to develop the methods and theory of bioethics have matured to the point that it is now a discipline in the strictest sense, new bioethics training programs have appeared at all postsecondary levels. In this essay, we examine the number and types of U.S. programs and degrees in this growing field. (shrink)

We describe our efforts to address theoretical opportunities and methodological challenges that arose in the context of our ethnographic investigation of research labs in four different fields of bioengineering science. The multiyear study compared the common and specific features of four sites of interdisciplinary practice and aimed to analyze personal and collective goals, problem formulations, methods, technologies, and social organization within each lab. In the second phase of the study we sought to inform curriculum development for biomedical engineering from the (...) ethnographic study, with the broader goal of positioning students to engage in the kind of thinking scientists actually do. Evaluating thinking in action posed considerable challenges, and required us to develop an approach to assessing the extent to which students enrolled in the new course were “thinking like a biomedical engineer.” Our principal point of emphasis for this chapter is that honest confrontation of the challenges of ethnographic study of science practice must lead to caution, yet that ethnographic study of science enables innovative adaptations of methods and can yield vital insights into psychological dimensions of science, including interdisciplinary science. (shrink)

The first Ethics Bowl competition was established in the 1990s by Dr. Robert Ladenson of the Illinois Institute of Technology to help students reason through ethical challenges they will face in their personal and professional lives, and help them develop responsibilities as citizens of a democracy. Since then, the Ethics Bowl format and its pedagogical goals have been adapted to many other academic disciplines and a variety of student and professional populations. Our aim was to quantify the growth of the (...) Ethics Bowl concept by enumerating and describing extant Ethics Bowl programs, outlining both pedagogical goals and operational aspects. Using respondent-driven sampling, we identified 20 Ethics Bowl programs across the globe, reaching tens of thousands of participants annually, and an additional two programs preparing to launch in the near future. We conclude by making recommendations for pedagogical and operational dimensions of the programs. (shrink)

The rule of law is widely perceived to be a public law doctrine, concerned with the way governmental authority conforms to dictates of law. This book explores the idea that the rule of law instead concerns the conditions under which any relationship - that among citizens as well as that between citizens and the state - becomes subject to law.

The ethical (and philosophical) issues arising in citizen science are fascinating, challenging, and potentially pathbreaking in that they force us to reconsider the conceptual and regulatory catego...

Volume 20, Issue 10, October 2020, Page 61-63.

Volume 19, Issue 9, September 2019, Page 44-45.

Volume 19, Issue 11, November 2019, Page 65-66.

The question of whether clinical ethics consultants may engage in patient advocacy in the course of consultation has not been addressed, but it highlights for the field that consultants? allegiances, and the boundaries of appropriate professional practice, must be better understood. I consider arguments for and against patient advocacy in clinical ethics consultation, which demonstrate that patient advocacy is permissible, but not central to the practice of consultation. I then offer four recommendations for consultants who engage in patient advocacy, and (...) consider the implications of this issue for the field.1. (shrink)

Cell cycle dynamics has emerged as a key regulator of stem cell fate decisions. In particular, differentiation decisions are associated with the G1 phase, and recent evidence suggests that self‐renewal is actively regulated outside of G1. The mechanisms underlying these phenomena are largely unknown, but direct control of gene regulatory programs by the cell cycle machinery is heavily implicated. A recent study sheds important mechanistic insight by demonstrating that in human embryonic stem cells (hESCs) the Cyclin‐dependent kinase CDK2 controls a (...) wide‐spread epigenetic program that drives transcription at differentiation‐related gene promoters specifically in G1. Here, we discuss this finding and explore whether similar mechanisms are likely to function in multipotent stem cells. The implications of this discovery toward our understanding of stem cell‐related disease are discussed, and we postulate novel mechanisms that position the cell cycle as a regulator of cell fate gene networks at epigenetic, transcriptional and post‐transcriptional levels. (shrink)

Journal of Philosophy of Education, EarlyView.

Virtually nonexistent in traditional American Indian communities, today American Indian women and children experience family violence at rates similar to those of the dominant culture. This article explores violence within American Indian communities as an expression of internalized oppression and as an extension of Euro-American violence against American Indian nations.

Validation of a biomarker-based medical product development tool or clinical test is an evidentiary process that must be tailored to the proposed use. Appropriate data and analyses are needed to demonstrate that the biomarker meets analytical and clinical performance criteria consistent with favorable benefit: risk balance.

The research enterprise depends on trust, especially trust in data reliability and ethical conduct of research. This trust is accomplished via systems, or “architectures,” that do the work of ensuring trustworthiness in research when individuals are not able to assess it for themselves. In the United States and many other countries, national laws or regulations constitute the research ethics trust architecture. But new research methods, such as citizen science, DIY biology, biohacking, or corporate research, avoid such regulations because they draw (...) on new means of funding, disseminating, and conducting research. This challenges the sufficiency of the traditional approach and requires us to revisit how we generate trust in the research enterprise. In this article, I discuss how new research challenges the existing trust architecture, offer some necessary elements of trust architecture in general, and use citizen science as a case study to illustrate how new, ethically meaningful trust architectures could be built. (shrink)

This essay is a comparative analysis of results reported in this volume from studies in mainland China, the United States, Iran, and Hong Kong regarding organ donation incentives. They reveal widespread (but not unanimous) support for honorary incentives (such as notes or ceremonies of gratitude) and significant support for familist incentives (offering a donor’s family members priority should they need an organ transplant in the future). Opinions on financial incentives were much more mixed, with significant worries expressed regarding potential exploitation (...) and unfairness. These interviews also reinforce the importance of culturally appropriate constructions of any steps to increase organ donation rates. And, in addition to their comments on various types of incentive, interviewees in these chapters also offer insight into other measures that could be taken to increase organ donation. (shrink)

Before we commit significant resources of time and energy to clinical ethics consultation (CEC) certification, education, and the like, one of the questions we ought to be able to answer is how to...

The cognitive revolution in the 1950s and 1960s led researchers to view the human mind--like a computer--as an information-processing system that encodes, represents, and stores information and is constrained by limits on hardware and software. The emergence of new behavioral, computational, and neuroscience methodologies, has deeply expanded psychologists' understanding of the workings of the infant, child, and adult mind. One result is that research has focused on mechanisms of change, over developmental time, in the information-processing mind.In this book, Lisa (...) Oakes, Cara Cashon, Marianella Casasola, and David Rakison bring together the recent findings and theories about the origins and early development of the information-processing mind, and provide insight into the future directions in the study of infant perception and cognition. The contributors represent a wide-range of research areas in the study of infant perception and cognition, who emphasize the use of diverse methodological techniques to address key questions about development. Their chapters demonstrate how the combination of historical perspectives on the information-processing approach to cognition and recent advances in behavioral, computational, and neuroscience approaches to cognition has contributed to our understanding of how abilities ranging from visual attention to face processing to object categorization have developed during infancy. Across this broad range of topics, it is clear that much of our modern understanding of infant perceptual and cognitive development emerges from the foundation of classic information-processing models of development, such as that of Leslie B. Cohen. The recent advances illustrated in this book show how researchers have built on this foundation to uncover the mechanisms that drive developmental change. (shrink)

From accessible and affordable health care to old or new reproductive technologies, human or animal research, and beyond, the justice and well‐being of our society depends on the ability of key groups—such as scientists and health care providers—along with members of the public to identify the key issues, articulate their values and concerns, deliberate openly and respectfully, and together find the most defensible ways forward.The Presidential Commission for the Study of Bioethical Issues and The Hastings Center are committed to improving (...) the ethical literacy of the American public in the domain of bioethics. But what are the best educational practices to spur and support these sorts of societal conversations? And where are the greatest gaps in our collective knowledge of how best to inspire and increase moral understanding, analytical thinking in the moral domain, and professional integrity? (shrink)

For the first time, the revised Common Rule specifies that public health surveillance activities are not research. This article reviews the historical development of the public health surveillance exclusion and implications for other foundational public health practices.