Ongoing research in the fields of genetics and biotechnology hold the promise of improved diagnosis and treatment of genetic diseases, and potentially the development of individually tailored pharmaceuticals and gene therapies. Difficulty, however, arises in determining how these services are to be evaluated and integrated equitably into public health care systems such as Canada's. The current context is one of increasing fiscal restraint on the part of governments, limited financial resources being dedicated to health care, and rising costs for (...) new health care services and technologies. This has led to increasing public debate in the last few years about how to reform public health care, and whether we should prohibit, permit or perhaps even encourage private purchase of health care services. ;In Canada, some of these concerns have crystallized around the issue of gene patents and commercial genetic testing, in particular as illustrated by the case of Myriad Genetics' patented BRACAnalysis test for hereditary breast and ovarian cancer. While most Canadians who currently access genetic services do so through the public health care system, for those with the means, private purchase is becoming an option. This situation raises serious concerns---about justice in access to health care; about continued access to safe and reliable genetic testing supported by unbiased patient information; and about the broader effects of commercialization for ongoing research and the Canadian public health care system. Commercial genetic testing presents a challenge to health care professionals, policy analysts, and academics concerned with the social, ethical and policy implications of new genetic technologies. Using the Myriad case as an exemplar, tools from moral philosophy, the social sciences, and health policy and law will be brought to bear on the larger issues of how as a society we should regulate commercial research and product development, and more coherently decide which services to cover under public health insurance and which to leave to private purchase. Generally, the thesis is concerned with the question of "how best to bring capital, morality, and knowledge into a productive and ethical relationship". (shrink)

The pursuit of genetic knowledge has such emotional, social, scientific, and financial importance that it has been compared to the divine quest for the Holy Grail, and to the calamity of opening Pandora's Box. Therefore, it comes as no surprise that the recent announcement of a completed blueprint for the human genome has fueled calls for both increased research and increased precautions. This new era, which holds the potential promise of advances in medicine, agriculture and other areas, also requires the (...) careful investigation of a myriad of issues. Those issues such as informed consent, patenting, privacy, and confidentiality, have been explored in at least some detail. Others, such as equity, mutual respect, empowering education, consensus building, and planning for long-term survival, have not been as fully examined, nor have they been as comprehensively integrated into mainstream thinking. To facilitate this, we need to implement an ethical approach that leads us to ask critical questions about the appropriate use of our new tools. (shrink)

The recent expansion of online genetic-genealogical networks has been hailed as a development that could break racial taboos in the United States by providing irrefutable evidence of the myriad historical and genetic links—many originating in slavery—connecting white and black families. These predictions are countered, however, by a scholarly literature on “white ignorance,” defined as an active historical project that works to prevent privileged groups from apprehending their links to, and positionality within, systems of racial oppression. This paper mobilizes concepts (...) from the fields of agnotology and epistemic ethics to assess how far genetic-genealogical technologies can contribute to redressing racialized epistemic inequities between slave and slaveholder descendants, by inducing the latter to respond to the former’s kinship claims and give access to data that could help reconstruct their linked family histories. Drawing on ethnographic and interview data that foreground the experiences of African American genealogists, the study outlines the structural and affective dimensions that have converged to enable white ignorance regarding genealogies of slavery and discusses ethical and technical solutions proposed by genealogical practitioners to redress the racialized power dynamics that continue to condition access to, and public acceptance of, family history knowledge relating to slavery. (shrink)

The use of a reporter gene in transgenic mice indicates that there are many local mutations and large genomic rearrangements per somatic cell that accumulate with age at different rates per organ and without visible effects. Dissociation of the cells for monolayer culture brings out great heterogeneity of size and loss of function among cells that presumably reflect genetic and epigenetic differences among the cells, but are masked in organized tissue. The regulatory power of a mass of contiguous normal cells (...) is expressed in its capacity to normalize the appearance and growth behavior of solitary homophilic neoplastic cells, and to redirect differentiation of solitary heterophilic stem‐like cells. Intimate contact between the interacting cells is required to induce these changes. The normalization of the neoplastic phenotype does not require gap junctional communication between cells, though transdifferentiation might. These varied relationships are manifestations of the unifying biological principle of “order in the large over heterogeneity in the small”. BioEssays 28: 515–524, 2006. © 2006 Wiley Periodicals, Inc. (shrink)

: Decisions about funding health services are crucial to controlling costs in health care insurance plans, yet they encounter serious challenges from intellectual property protection—e.g., patents—of health care services. Using Myriad Genetics' commercial genetic susceptibility test for hereditary breast cancer (BRCA testing) in the context of the Canadian health insurance system as a case study, this paper applies concepts from social contract theory to help develop more just and rational approaches to health care decision making. Specifically, Daniels's and (...) Sabin's "accountability for reasonableness" is compared to broader notions of public consultation, demonstrating that expert assessments in specific decisions must be transparent and accountable and supplemented by public consultation. (shrink)

Non-therapeutic genetic testing in childhood presents a “myriad of ethical questions”; questions which are discussed and resolved in professional policy and position statements. In this paper we consider an underdiscussed but strongly influential feature of policy-making, the role of selective case and exemplar in the production of general recommendations. Our analysis, in the tradition of rhetoric and argumentation, examines the predominate use of three particular disease exemplar to argue for or against particular genetic tests. We discuss the influence these (...) choices have on the type and strength of subsequent recommendations. We argue that there are lessons to be drawn about how genetic diseases are conceptualised and we caution against the geneticisation of medical policy making. (shrink)

As a species, we are on the cusp of being able to alter that which makes us uniquely human, our genome. Two new genetic technologies, embryo selection and germline engineering, are either in use today or may be developed in the future. Embryo selection acts to alter the human gene pool, reducing genetic diversity, while germline engineering will have the ability to alter directly the genomes of engineered individuals. Our genome has come to be what it is through an evolutionary (...) process extending over millions of years, a process that has involved exceedingly complex and unpredictable interactions between ourselves or our ancestors and myriad other life forms within Earth's biosphere. In this paper, the ecological imperative, which states that we must not alter the human genome or the collective human genetic inheritance, will be introduced. It will be argued based on ecological principles that embryo selection and germline engineering are unethical and unwise because they will diminish our survivability as a species, will disrupt our relationship with the natural world, and will destroy the very basis of that which makes us human. (shrink)

The alleged threats to human nature are at the root of many concerns about the use of nanotechnology to extend human health and capabilities. Bu the concept of human nature is illusory, selectively deployed, and does not impose any ethical constraint on human enhancement. Human nature is not only a meaningless concept, a product of our imperfect human cognition and a relic of the idea of a "soul," but, as it is deployed today against human enhancement technologies, it is also (...) a morally offensive, racist concept. The "human-racists" who deploy the concept of human nature are more inclusive than their forebears, but the make the same mistake of tying citizenship and value to biology. By setting aside the concept of human nature, we can affirm the value of the myriad aspects of human existence that we wish to preserve and extend using human enhancement technologies, including whatever genetic capacities and limits we may discover. Human enhancement technologies, such as those that may be enabled by nanotechnology and genetic engineering, enable us to define a new and more dynamic set of human capabilities, and to better achieve many moral virtues, regardless of whether they are part of "human nature" or not. (shrink)

Decisions concerning use of gene therapy will probably not be made within the privacy of what was once a dyadic doctor–patient relationship. More likely, some overarching guidelines will emerge directing or limiting the practice. Debate and position-taking over the myriad scientific, social, ethical, legal, and political implications of research into and manipulation of the human genome has intensified since the U.S. government officially launched the Human Genome Project in 1988 by appropriating funds to the Department of Energy and the (...) National Institutes of Health for genome research. The discourse this costly research endeavor has generated in the scientific and bioethics literature and even in the popular press outlines a host of issues likely to evoke attempts at line drawing and policymaking. Many of these issues lend themselves easily to the shorthand of dualistic opposition: somatic cell therapy versus germ line therapy or engineering ; correction of defects and disease only versus enhancement of conditions not considered defects or diseases; intervening on the basis of phenotype only versus intervening on the basis of genotype also. (shrink)

The role of fixed charges present at the surface of biological membranes is usually described by the Gouy-Chapman-Grahame theory of the electric double-layer where the Grahame equation is applied independently on each side of the membrane and where the capacitive charges are disregarded. In this article, we generalize the Gouy-Chapman-Grahame theory by taking into account both intrinsic charges and capacitive charges, in the density value of the membrane surface charges. In the first part, we show that capacitive charges couple electrostatic (...) potentials present on both sides of the membrane. The intensity of this coupling depends both on the value of the membrane specific capacitance and the transmembrane electric potential difference. In the second part, we suggest some physiological implications of membrane electric double-layers. (shrink)

The Epic of Evolution is a course taught at Northern Arizona University. It engages the task of formulating a new epic myth that is based on the physical, natural, social, and cultural sciences. It aims to serve the need of providing meaning for human living in the vast and complex universe that the sciences now depict for us. It is an interdisciplinary effort in an academic setting that is often divided by specializations; it focuses on values in a climate of (...) relativism; and it concentrates on an enterprise for which there are few textbooks at hand. The course is presented in three segments: the cosmos before humans appeared, the human phenomenon, and scenarios for the future of evolution. (shrink)

From the late 1980s, scientists began concentrating their search for genes presumed responsible for inherited tendencies to get ovarian and breast cancers on chromosome 17. The Berkeley group and others around the world were closing in on the sequence when Mark Skolnick, a founder of Myriad Genetics, announced successfully isolating and cloning the BRCA1 mutation. In 1994, Myriad and other cooperating parties first filed a patent for the BRCA1 mutation they isolated and then in 1995 they also (...) filed patents for what is known as BRCA2, a related mutation. By 1996, Myriad developed and began marketing “BRCAnalysis™,” their predictive test for the presence of possibly cancer‐causing mutations. Shortly after the American Civil Liberties Union's (ACLU) filed its case against Myriad, a series of cases went up to the US Supreme Court that set the stage for its eventual decision in Myriad, and revisited the subject of Section 101 patent‐eligibility. (shrink)

Building on the emerging literature on the ethics of social enterprises (SEs), this paper advances the underexplored role of frontline workers (FLWs) as embedded agents at the interface between communities and SEs. Specifically, we uncover the subjectivity of FLWs as they navigate moral ambiguities while performing their professional roles, dealing with rules and regulations within the organizational hierarchy and living as members of local communities. Based on an inductive case study of a microfinance organization in Cameroon, we find that FLWs (...) engage in three rationalization strategies: cautious disengaging, safeguarding self-interest, and justifying relevance. Our findings offer a better understanding of the ethics of SEs by unpacking the subjectivity of FLWs. We highlight a bottom-up account of caring SEs, identify a boundary condition to subjectivity, and present a nuanced view of FLWs in embedded organizations. We also discuss the practical implications for SEs to improve their compassion and cater for the mental wellbeing of FLWs. (shrink)

By exploring whether nanotechnologies have the potential to generate green innovations, we consider the paradox between the negative and positive side-effects that could come with the development of nanotechnologies. Starting from the conceptual framework of green product innovation, the potential green innovation activity of more than 14,000 firms of the nanotech sector is investigated. Using a query-search method, their patenting activity is explored. Results first show that there is an increasing trend toward the creation of fundamental green knowledge by firms (...) involved in nanotechnologies; second, they demonstrate that energy efficiency is the main driver of green knowledge creation in the sector and third they reveal the main characteristics of nanotech firms creating green knowledge. Beyond their contribution to the debate between positive and negative outcomes of nanotechnology developments, these results also enrich the conceptual framework of green product innovation—a key route to achieving sustainability at the same time as growth. (shrink)

Myriad Genetics holds a patent on testing for the hereditary breast and ovarian cancer genes, BRCA1 and BRCA2, and therefore has a forced monopoly on this critical genetic test. Myriad launched a Direct-to-Consumer (DTC) marketing campaign in the Northeast United States in September 2007 and plans to expand that campaign to Florida and Texas in 2008. The ethics of Myriad's patent, forced monopoly and DTC campaign will be reviewed, as well as the impact of this situation (...) on patient access and care, physician liability, and the future of DTC campaigns for genetic testing. (shrink)

The rapidly changing field of genetics affects society through advances in health-care and through implications of genetic research. This study addresses the impacts of new genetic discoveries and technologies on different segments of today's society. The book begins with a chapter on genetic complexity, and subsequent chapters discuss moral and ethical questions arising from today's genetics from the perspectives of health care professionals, the media, the general public, special interest groups and commercial interests.

Society has historically not taken a benign view of genetic disease. The laws permitting sterilization of the mentally re tarded~ and those proscribing consanguineous marriages are but two examples. Indeed as far back as the 5th-10th centuries, B.C.E., consanguineous unions were outlawed (Leviticus XVIII, 6). Case law has traditionally tended toward the conservative. It is reactive rather than directive, exerting its influence only after an individual or group has sustained injury and brought suit. In contrast, state legislatures have not been (...) inhibited in enacting statutes. Many of their products can be characterized as hasty, unnecessary, ill-conceived, and based on the heart rather than the head. Moreover the lack of expert consultation sought has also been remarkable. One state legislature, for example, has advocated immunization for sickle cell anemia! Many others have enacted laws for the screening of inborn errors of metabolism, e.g., phenylketon uria, but have poorly defined the lines of responsibility to secure compliance. A spate of specific disease-related bills has emerged in the u.S. Congress, each seeking recognition and appropriations. Sickle cell anemia, hemophilia, Cooley's anemia and Tay-Sachs disease have been among the front-runners for support. Finally, in 1975, Congress has begun to examine an omnibus bill concerning all forms of genetic disease. The bill, termed the National Genetic Diseases Act is, however, still far from being enacted. (shrink)

Progressive supranuclear palsy is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP and 3,247 controls followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the (...) stage 1 SNPs that yielded P ≤ 10-3. We found significant previously unidentified signals associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component. © 2011 Nature America, Inc. All rights reserved. (shrink)

BackgroundClinical ethical practice (CEP) is required for healthcare workers (HCWs) to improve health-care delivery. However, there are gaps between accepted ethical standards and CEP in Ethiopia. There have been limited studies conducted on CEP in the country. Therefore, this study aimed to determine the magnitude and associated factors of CEP among healthcare workers in healthcare facilities in Ethiopia.MethodFrom February to April 2021, a mixed-method study was conducted in 24 health facilities, combining quantitative and qualitative methods. Quantitative (survey questionnaire) and qualitative (...) (semi-structured interviews) data were collected. For quantitative and qualitative data analysis, Stata version 14 and Atlas.ti version 7 were utilized. Multiple logistic regression and thematic analysis for quantative and qualitative respectively used.ResultsFrom a total of 432 study participants, 407 HCWs were involved in the quantitative analysis, 36 participants were involved in five focus group discussions (FGDs), and eleven key informant interviews (KIIs) were involved in the qualitative analysis. The score of good CEP was 32.68%. Similarly, the scores of good knowledge and attitude were 33.50% and 25.31%, respectively. In the multiple logistic regression models, satisfaction with the current profession, availability of functional CECs, compassionate leaders, previously thought clinical ethics in pre-service education and good attitude were significant factors associated with CEP. Among these significant factors, knowledge, compassionate leaders, poor infrastructure, a conducive environment and positive attitudes were also determinants of CEP according to qualitative findings.ConclusionsThe CEP in health care services in Ethiopia is low. Satisfaction with the current profession, functional CECs, positive attitude, compassionate leaders and previously thought clinical ethics were significant factors associated with CEP. The Ministry of Health (MoH) should integrate interventions by considering CECs, compassionate leadership, and positive attitudes and enhance the knowledge of health professionals. Additionally, digitalization, intersectoral collaboration and institutionalization are important for promoting CEP. (shrink)

This study examines the representations of human gene patents in Chinese newspapers. We conducted a qualitative content analysis of news articles published between 2006 and 2017 to identify the major themes in media coverage, ethical considerations, perceptions of risks and benefits, and attitudes towards the patentability of human genes. The results show that two key ethical concerns were expressed by journalists: that it is morally wrong to own or patent human genes and that gene patents could potentially impede patients’ access (...) to healthcare services. Nonetheless, the press coverage has tended to be largely favorable, rather than opposed to human gene patenting. There were no normative claims that human genes should not be patentable in China, which indicates a generally positive attitude towards patentability in media discourse. Most articles that expressed criticism toward gene patenting discussed challenges in other countries, with significant attention given to the United States Supreme Court’s ruling in the Myriad case that invalidated Myriad Genetics’ patents on the BRCA1 and BRCA2 genes. Overall, the newspapers were uncritical of the Chinese gene patenting regime. News reporting on the issue was highly suggestive of a strong pro-commercialization stance, although some discussions emphasized potential risks over benefits. Our analysis highlights the need for balanced media reporting on human gene patents in China and a top-down approach to engage the public in substantive discussions on the ethical and societal implications of the existing patent regime. (shrink)

. On June 13, 2013, the Supreme Court issued a unanimous decision in Association for Molecular Pathology v. Myriad Genetics, holding that a naturally occurring DNA segment that has merely been “isolated” is not patent eligible, and effectively overturning a longstanding policy that had allowed for patents to be issued on thousands of human genes. Drawing largely on the expert testimony and arguments presented during the court proceedings, this paper provides an overview of the discovery and patenting of (...) the BRCA1 and BRCA2 genes at issue in the case, the impacts of gene patents on biomedical research and innovation and clinical practice, and the legal analysis presented by the plaintiffs throughout the case for how patents issued on genes violate the Patent Act and the U.S. Constitution. Finally, it discusses how the Court’s decision in this case marked an extraordinary victory not only for the plaintiffs directly involved, but more generally for women, patients, researchers, civil liberties, and the future of medicine. (shrink)

Developing and applying a framework for understanding the complexities of economic and legal considerations in two recent Supreme Court rulings was the focus of this research. Of especial concern was the protection of intellectual property in the pharmaceutical industry. Two cases from 2013 were selected: FTC v. Activis and Association for Molecular Pathology v. Myriad Genetics, Inc.. Part of the rationale for the selection was the importance of the Supreme Court rulings and the importance of the pharmaceutical sector. (...) A qualitative content analysis of the Court’s reported decision in each case was analyzed. Since ethical considerations may or may not be consistent with efficiency considerations of plaintiffs, defendants, or the courts, both efficiency and ethical arguments were included. Equally important to the understanding of the economic and ethical issues in the two above- mentioned cases was the development of a rationale for including and excluding a variety of ethical theories, ultimately influenced by Markkula Center For Applied Ethics Of Santa Clara University and Schumann :93–111, 2001). The refinement and use of a levels analysis approach portrays societal, organizational, and individual impacts, and allows for deeper understanding of litigated cases, irrespective of the country in which the litigation takes place :385–393, 2004; Foss et al., J Manag Stud 47:455–482, 2010). A rationale for this framework is the societal and organizational impacts on the myriad of stakeholders in the pharmaceutical sector. We suggest that this framework can be applied to other industries and other complex conflicts among stakeholders as well. (shrink)

Mitnovetski and Nicol provide a stimulating and thorough discussion of patenting of medical methods of treatment— an area of law that interests patent lawyers, medical practitioners, and the public. However, a consideration of alternative perspectives to their account of the exclusion of medical methods of treatment from patentability undermines the rhetorical force of their conclusion that there are “strong ordre public and morality reasons and “generally convenient” reasons to justify the existence of such patents”. I set out below four counter (...) arguments to their claims that could lead to a more balanced consideration of whether medical methods should be patented.TWO EXAMPLESFirstly, the patentability of medical methods of treatment cannot be discussed in isolation from the larger current normative debate about the justice of patenting medical technologies. Although much of what the authors discuss is necessarily speculative because it involves patenting inventions that have not previously been patentable, two cases present concrete instances of the impact of granting patent rights on healthcare. The first is the example of Myriad Genetics Inc, Salt Lake City, UT, USA, which has patented the genetic diagnostic test for the BRCA1 and BRCA2 breast cancer mutations in the US and, to a lesser extent, in Europe. It is enforcing its patent rights to require national healthcare systems to pay its highly increased fee to conduct the test in Atlanta, when hospitals can perform the test locally much more cheaply and efficiently. Many, including the Curie Institute, which is spearheading opposition proceedings at the European Patent Office, argue that allowing such technologies to be patented undermines socialised healthcare regimes, inadvertently leading to privatisation and diminished access to healthcare. Many women have not been able to access the test due to its high cost.A second well known example concerns access in developing countries to life saving drugs …. (shrink)

The genetic testing industry is in a period of potentially major structural change driven by several factors. These include weaker patent protections after Association for Molecular Pathology v. Myriad Genetics and Mayo Collaborative Services v. Prometheus Laboratories, Inc.; a continuing shift from single-gene tests to genome-scale sequencing; and a set of February 2014 amendments to the Clinical Laboratory Improvement Amendments of 1988 regulations and the Health Insurance Portability and Accountability Act Privacy Rule. This article explores the nature of (...) these changes and why they strain existing regulatory frameworks for protecting patients, research subjects, and other consumers who receive genetic testing.Oversight of genetic testing has, at least to date, had two major thrusts: privacy and ethical protections and traditional consumer health and safety regulations. Examples of the first are the Genetic Information Nondiscrimination Act and the HIPAA Privacy Rule, which after 2013 amendments expressly protects genetic privacy as well as other medical privacy. (shrink)

On June 13, 2013, the Supreme Court placed its imprimatur on a principle that has been gathering force within patent law for several decades: human beings constitute unpatentable subject matter. In Association for Molecular Pathology v. Myriad Genetics, Inc., the court answered the question it had posed itself–“Are human genes patentable?”–decisively in the negative. This legal result was predictable, given a careful reading of the entrails of judicial decisions, congressional bills, executive branch pronouncements, and decisions in other countries (...) about patents claiming human‐related inventions, all of which have echoed the spirit of the Thirteenth Amendment by proscribing property rights‐including intellectual property rights‐in human beings. To understand how patent law has evolved toward this result, one may trace the legal treatment of patents claiming human embryonic stem cells, chemical products of human physiology, human thought, and now, human genes. Woven together, these strands of evidence led inexorably toward the ultimate rejection of human gene patents by the Supreme Court. (shrink)

Perhaps no other medical advocacy movement has been as successful as breast cancer advocacy in increasing awareness and funds. Recent decades have seen a division between a “green” environmental advocacy aimed at prevention and a “pink” advocacy focused on fund-raising for a cure. The movement has largely failed to address the implications of corporate control over genetic testing, as reflected by the involvement of only one breast cancer organization in the lawsuit against Myriad Genetics Laboratory, which held patents (...) on the BRCA 1/2 genes. This article argues that the reason for this failure is an unwillingness to challenge the role that corporations play in advocacy. (shrink)

Gene patenting has captured the headlines for the past four years, thanks in large part to the lawsuit the American Civil Liberties Union and the Public Patent Foundation brought against Myriad Genetics for the patents on the breast cancer genes, BRCA 1 and 2. Despite their recent celebrity, human gene patents have been granted by the United States Patent and Trademark Office for over thirty years. The commodification of the human body is not all that recent: one might (...) be tempted to argue that gene patenting is the inevitable next step in the com-modification of natural processes and products. Edward Yoxen dates the origins of the technological capitalization of life back to the 1920s.. (shrink)

Evolutionary biology since Darwin has seen a dramatic entrenchment and elaboration of the role of chance in evolution. It is nearly impossible to discuss contemporary evolutionary theory in any depth at all without making reference to at least some concept of “chance” or “randomness.” Many processes are described as chancy, outcomes are characterized as random, and many evolutionary phenomena are thought to be best described by stochastic or probabilistic models. Chance is taken by various authors to be central to the (...) understanding of fitness, genetic drift, macroevolution, mutation, foraging theory, and environmental variation, to take but a few examples. And for each of these notions, there are yet more stories to tell. Each weaves itself into the various branches of evolutionary theory in myriad different ways, with a wide variety of effects on the history and current state of life on Earth. Each is grounded in a particular trajectory in the history of philosophy and the history of biology, and has inspired a variety of responses throughout science and culture. This book endeavors to offer a cross-section of biological, historical, philosophical, and theological approaches to understanding chance in evolutionary theory. (shrink)

Hidden among the myriad nucleotide variants that constitute each species' gene pool are a few variants that contribute to phenotypic variation. Many of these differences that make a difference are non‐coding cis‐regulatory variants, which, unlike coding variants, can only be identified through laborious experimental analysis. Recently, Cowles et al.1 described a screening method that does an end‐run around this problem by searching for genes whose cis regulation varies without having to find the polymorphic nucleotides that influence transcription. While we (...) will continue to require a diverse arsenal of experimental methods, this versatile method will speed the identification of functional genetic variation. BioEssays 25:421–424, 2003. © 2003 Wiley Periodicals, Inc. (shrink)

What enables individually simple insects like ants to act with such precision and purpose as a group? How do trillions of individual neurons produce something as extraordinarily complex as consciousness? What is it that guides self-organizing structures like the immune system, the World Wide Web, the global economy, and the human genome? These are just a few of the fascinating and elusive questions that the science of complexity seeks to answer. In this remarkably accessible and companionable book, leading complex systems (...) scientist Melanie Mitchell provides an intimate, detailed tour of the sciences of complexity, a broad set of efforts that seek to explain how large-scale complex, organized, and adaptive behavior can emerge from simple interactions among myriad individuals. Comprehending such systems requires a wholly new approach, one that goes beyond traditional scientific reductionism and that re-maps long-standing disciplinary boundaries. Based on her work at the Santa Fe Institute and drawing on its interdisciplinary strategies, Mitchell brings clarity to the workings of complexity across a broad range of biological, technological, and social phenomena, seeking out the general principles or laws that apply to all of them. She explores as well the relationship between complexity and evolution, artificial intelligence, computation, genetics, information processing, and many other fields. Richly illustrated and vividly written, Complexity : A Guided Tour offers a comprehensive and eminently comprehensible overview of the ideas underlying complex systems science, the current research at the forefront of this field, and the prospects for the field's contribution to solving some of the most important scientific questions of our time. (shrink)

Revolutions in semiconductor device miniaturization, bioelectronics, and applied neural control technologies are enabling scientists to create machine-assisted minds, science fiction's “cyborgs.” In a paper published in 1999, we sought to draw attention to the advances in prosthetic devices, to the myriad of artificial implants, and to the early developments of this technology in cochlear and retinal implants. Our concern, then and now, was to draw attention to the ethical issues arising from these innovations. Since that time, breakthroughs have occurred (...) at a breathtaking pace. Scientists, researchers, and engineers using differing methodologies are pursuing the possibilities of direct interfaces between brains and machines. Technological innovations as such are neither good nor evil; it is the uses devised for them that create moral implications. As there can be ethical problems inherent in the proper human uses of technologies and because brain chips are a very likely future technology, it is prudent to formulate policies and regulations that will mitigate their ill effects before the technologies are widespread. Unlike genetic technologies, which have received widespread scrutiny within the scientific community, national governments, and international forums, brain–machine interfaces have received little social or ethical scrutiny. However, the potential of this technology to change and significantly affect humans is potentially far greater than that of genetic enhancements, because genetic enhancements are inherently limited by biology and the single location of an individual, whereas hybrids of human and machine are not so restricted. Today, intense interest is focused on the development of drugs to enhance memory; yet, these drugs merely promise an improvement of normal memory, not the encyclopedic recall of a computer-enhanced mind combined with the ability to share information at a distance. The potential of brain chips for transforming humanity are astounding. This paper describes advances in hybrid brain–machine interfaces, offers some likely hypotheses concerning future developments, reflects on the implications of combining cloning and transplanted brain chips, and suggests some potential methods of regulating these technologies. (shrink)

The patenting of human genes has been the subject of debate for decades. While China has gradually come to play an important role in the global genomics-based testing and treatment market, little is known about Chinese scholars’ perspectives on patent protection for human genes. A content analysis of academic literature was conducted to identify Chinese scholars’ concerns regarding gene patents, including benefits and risks of patenting human genes, attitudes that researchers hold towards gene patenting, and any legal and policy recommendations (...) offered for the gene patent regime in China. 57.2% of articles were written by law professors, but scholars from health sciences, liberal arts, and ethics also participated in discussions on gene patent issues. While discussions of benefits and risks were relatively balanced in the articles, 63.5% of the articles favored gene patenting in general and, of the articles that explored gene patents in the Chinese context, 90.2% supported patent protections for human genes in China. The patentability of human genes was discussed in 33 articles, and 75.8% of these articles reached the conclusion that human genes are patentable. Chinese scholars view the patent regime as an important legal tool to protect the interests of inventors and inventions as well as the genetic resources of China. As such, many scholars support a gene patent system in China. These attitudes towards gene patents remain unchanged following the court ruling in the Myriad case in 2013, but arguments have been raised about the scope of gene patents, in particular that the increasing numbers of gene patents may negatively impact public health in China. (shrink)