This chapter contains sections titled: Introduction Human DNA as Cultural Property The Genetic Appropriation of Culture Community Identity, Cultural Offense and Control of Genetic Information Conclusion References.

Ancient DNA has been discovered in many types of preserved biological material, including bones, mummies, museum skins, insects in amber and plant fossils, and has become an important research tool in disciplines as diverse as archaeology, conservation biology and forensic science. In archaeology, ancient DNA can contribute both to the interpretation of individual sites and to the development of hypotheses about past populations. Site interpretation is aided by DNA‐based sex typing of fragmentary human bones, and by the use of (...) class='Hi'>genetic techniques to assess the degree of kinship between the remains of different individuals. On a broader scale, population migrations can be traced by studying genetic markers in ancient DNA, as in recent studies of the colonisation of the Pacific islands, while ancient DNA in preserved plant remains can provide information on the development of agriculture. (shrink)

Many ethical concerns surrounding human genetics studies remain unresolved. We report here the situation in Cameroon.Objectives: To describe the profile of human genetic studies that used Cameroonian DNA samples, with specific focus on i) the research centres that were involved, ii) authorship, iii) population studied, iv) research topics and v) ethics disclosure, with the aim of raising ethical issues that emerged from these studies.Method: Bibliometric Studies; we conducted a PubMed-based systematic review of all the studies on human genetics that (...) used Cameroonian DNA samples from 1989 to 2009.Results and Discussion: Fifty articles were identified, involving predominantly research centres from Europe (64%) and America (32%). Only 7 (14%) Cameroonian institutions and 14 (28%) Cameroonian authors were associated with these publications.At least 52% of publications were devoted to population genetics (variation/migration patterns) amongst 30 Cameroonian ethnic groups. Very few studies concerned public health related genetic issues and only 5 (10%) references were found for hemoglobinopathies like sickle cell anaemia. Almost all DNA samples are ‘banked’ outside of the African continent.Capacity building, rights to the genetic information and benefits to the individuals, communities and populations who contribute to these studies are addressed.Conclusions: 1) Our data suggests the need for a wider debate towards building capacity and addressing ethical issues related to human genomic research in sub-Saharan Africa and specifically in Cameroon; 2) National ethical guidelines and regulations concerning the collection, use and storage of human DNA are urgently needed in Cameroon. (shrink)

Smartphones with Global Positioning System (GPS) apps offer simple and accurate tools to collect data on human mobility. However, their associated ethical challenges remain to be assessed. We used the Emanuel framework to assess the ethical concerns of using smartphone GPS to record mobility patterns of young adults in rural South Africa for a larger study on mobility and HIV risk (Sesikhona). We conducted four focus groups (FGDs) with individuals eligible for the Sesikhona study. FGD data were coded (...) using the Emanuel framework. Participants perceived use of smartphone GPS to study human mobility and HIV risk as valuable. They raised concerns about invasion of privacy and confidentiality. Also mentioned were risk/benefit ratio, informed consent and ongoing respect. Concerns expressed provided a useful evidence-base for the development of a guide to inform future participants about ethical issues arising in the use of GPS technology to track mobility and health-related issues. (shrink)

Computing plays an important role in genetics (and vice versa).Theoretically, computing provides a conceptual model for thefunction and malfunction of our genetic machinery. Practically,contemporary computers and robots equipped with advancedalgorithms make the revelation of the complete human genomeimminent – computers are about to reveal our genetic soulsfor the first time. Ethically, computers help protect privacyby restricting access in sophisticated ways to genetic information.But the inexorable fact that computers will increasingly collect,analyze, and disseminate abundant amounts of (...) class='Hi'>genetic informationmade available through the genetic revolution, not to mentionthat inexpensive computing devices will make genetic informationgathering easier, underscores the need for strong and immediateprivacy legislation. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:The 2007 Meeting of the Society for Buddhist-Christian StudiesSan Diego, California, November 16–17, 2007Peter A. HuffThe Society for Buddhist-Christian Studies sponsored two sessions in conjunction with the 2007 annual meeting of the American Academy of Religion (AAR). Each session highlighted themes related to the work of a major figure in Buddhist-Christian dialogue. The first session, addressing the topic “Homosexuality, the Church, and the Sangha,” was organized in honor of (...) Roger Corless (1938–2007), longtime member of the society, dual practitioner of Roman Catholicism and Vajrayana Buddhism, and a well-known voice for “queer sangha.” The second session, a panel discussion titled “The Thought and Legacy of Masao Abe,” focused on the career achievements of Abe (1915–2006), widely acknowledged as one of the most innovative and influential scholars in modern Zen studies, interreligious dialogue, and comparative philosophy.The first session, moderated by Harry Wells (Humboldt State University), featured three papers on issues of gender, sexual ethics, and religious identity. Robert Fastiggi, professor of systematic theology at Sacred Heart Major Seminary (Detroit), presented the paper “The Catholic Church and Homosexuality.” Arguing that the Catholic tradition avoids an “either/or” approach to homosexuality, he outlined the church’s official distinction between morally neutral homoerotic identity and what Vatican documents call “intrinsically disordered” homosexual acts. He also noted that Catholic researchers differ significantly on the question of the genetic origins of same-sex attraction. The key to Catholic moral teaching on homosexuality, he explained, is a “theology of the body” that envisions male-female complementarity as the divinely ordained pattern of creation. Fastiggi suggested that further discussion of related ideas such as celibacy, chastity, desire, and concupiscence would enhance future Buddhist-Christian dialogue on homosexuality.Ilene Stanford, a ThD candidate in religion, gender, and culture at Harvard University, presented the next paper, “In or Out? Marriage as a Social Practice.” Describing marriage in the United States as a “site of contestation,” she explored the conflicting [End Page 137] models of sexual union that currently inform public debates in political and ecclesiastical contexts. Using William Johnson’s A Time to Embrace: Same-Gender Relationships in Religion, Law, and Politics (2006) as a point of departure, she argued that many contemporary examinations of sexual relationships, even some of the most inclusive, fail to reckon with the way in which the West’s Augustinian legacy continues to make heterosexual marriage the norm for all moral reflection on sexual identity and expression. The escalating controversy in the international Anglican community, she said, exposes the weaknesses of Johnson’s “deliberative democracy” model and other theoretical models that minimize the role of political and social power in the construction of sexual ideals.José Ignacio Cabezón, who holds the XIV Dalai Lama Chair in Tibetan Buddhism at the University of California, Santa Barbara, presented the final paper: “Is Homosexual Sex ‘Sexual Misconduct’? Critical Reflections on Some Classical Indo-Tibetan Sources.” Analyzing the changing portraits of sexual immorality in the Pali canon, Indian Sanskrit texts, and Tibetan scholastic treatises, Cabezón traced the evolution of monastic commentary on lay sexuality over the course of several centuries. What originated primarily as a simple prohibition against some forms of male adulterous activity, he explained, eventually became an unprecedented attempt to regulate intricate details of sexual behavior. Identifying Ansanga (fourth century ce) as the first Buddhist writer to proscribe same-sex activity between men, Cabezón suggested that changing social mores, intra-Buddhist debates, and the fertile monastic imagination contributed to the gradual elaboration of moral teaching in ancient and classical Buddhist literature.After the paper presentations, Richard Reilly, professor of philosophy at St. Bonaventure University, responded with provocative comments. He raised critical points about the significance of the distinction between sexual acts and erotic relationships, the strategic though limited value of “deliberative democracy” in multicultural faith communities, and the need for more rigorous comparative study of homophobic legislation in Buddhist and Abrahamic religious traditions. Sparking an engaging discussion among presenters and members of the audience, Reilly’s remarks underscored the importance of ongoing interdisciplinary investigations into homosexuality, the church, and the sangha.The society’s second session at the AAR provided a venue for former... (shrink)

The dissemination of experimental materials, instruments, and methods is central to the progress of research in genetics. In recent years, competition for research funding and intellectual property issues have increasingly presented barriers to the dissemination of this "research-related information. "Information gathered in interviews with experimental geneticists and analysis of acknowledgment patterns in published genetics research are used to construct a series of basic scenarios for the exchange of genetic materials and research methods. The discussion focuses on (...) factors affecting individuals' behavior and expectations as information requesters and information providers. (shrink)

In 1869, Johann Friedrich Miescher discovered a new substance in the nucleus of living cells. The substance, which he called nuclein, is now known as DNA, yet both Miescher’s name and his theoretical ideas about nuclein are all but forgotten. This paper traces the trajectory of Miescher’s reception in the historiography of genetics. To his critics, Miescher was a “contaminator,” whose preparations were impure. Modern historians portrayed him as a “confuser,” whose misunderstandings delayed the development of molecular biology. Each of (...) these portrayals reflects the disciplinary context in which Miescher’s work was evaluated. Using archival sources to unearth Miescher’s unpublished speculations—including an analogy between the hereditary material and language, and a speculation that a series of asymmetric carbon atoms could account for hereditary variation—this paper clarifies the ways in which the past was judged through the lens of contemporary concerns. It also shows how organization, structure, function, and information were already being considered when nuclein was first discovered nearly 150 years ago. (shrink)

Timely effective regulation of genetic advances presents a challenge for justice systems. We used a 51-item battery to examine views on major genetics-related issues of those at the forefront of regulating this area – Supreme Court judges (N = 73). We also compared their views with those of other justice stakeholders (N = 210) from the same country (Romania). Judges showed greater endorsement and less variability in views on the use of genetic data and technologies than the other (...) groups. The agreement among the judges was strikingly strong for some controversial issues, including gene editing; patenting of genetic findings; and the State using genetic information for crime prevention. Judges and other lawyers recognized the need for amending the relevant laws. Without appropriate regulation, genetic science has a risk of propelling inequality rather than fulfilling its promise to improve people’s lives. (shrink)

DNA sequence variation is abundant in wild populations. While molecular biologists use genetically homogeneous strains of model organisms to avoid this variation, evolutionary biologists embrace genetic variation as the material of evolution since heritable differences in fitness drive evolutionary change. Yet, the relationship between the phenotypic variation affecting fitness and the genotypic variation producing it is complex. Genetic buffering mechanisms modify this relationship by concealing the effects of genetic and environmental variation on phenotype. Genetic buffering allows (...) the build-up and storage of genetic variation in phenotypically normal populations. When buffering breaks down, thresholds governing the expression of previously silent variation are crossed. At these thresholds, phenotypic differences suddenly appear and are available for selection. Thus, buffering mechanisms modulate evolution and regulate a balance between evolutionary stasis and change. Recent work provides a glimpse of the molecular details governing some types of genetic buffering. BioEssays 22:1095–1105, 2000. © 2000 John Wiley & Sons, Inc. (shrink)

Metastasis is one of the clinical parameters that has a strong negative influence on the prognosis of cancer patients. In recent years, significant advances have furthered our understanding of this process at the molecular and biological levels. This paper will discuss recent discoveries relating to the earliest, intra‐tumoral stages of metastasis in cancer cells, specifically focusing on: (i) the development of metastatic traits during primary tumorigenesis; (ii) intrinsic and extrinsic cancer cell programs associated with malignant traits; (iii) the intra‐tumoral (...) class='Hi'>migration patterns of cancer cells and the dynamic roles played by the Rho/Rac GTPases and epithelial‐mesenchymal transitions in this process; and (iv) the genetic strategies used by metastatic cancer cells to promote intra‐tumoral cell migration and their subsequent escape to peripheral tissues. Finally, the therapeutic and diagnostic relevance of this information will be discussed, as well as potential future developments. (shrink)

Biology, during the last decade in particular, is making substantial headway into our social theories of business and behavior. While the social sciences rush to keep up with the advancement of knowledge, we highlight the need for an ethics discussion to also keep pace. Although the implications to theory are important, our focus is on how new knowledge has the capacity to alter the formulation and practice of business policy, which we believe is potentially profound. Furthermore, the ethicality of a (...) set of issues can depend heavily on one’s perspective, and differing views may not always be compatible. With this in mind, we discuss the ways in which one area of emerging biological knowledge—behavioral genetics—invites a rethinking of the nuances of four long-standing topic areas of business ethics surrounding personnel selection; and we do so from two perspectives—that of the employer and of the job seeker. The four ethical topics are the static nature of genetic information that is out of an individual’s control, faking and lying during selection processes, privacy, and stigmatization of minority groups. (shrink)

Epistasis plays an important role in the genetic architecture of common human diseases and can be viewed from two perspectives, biological and statistical, each derived from and leading to different assumptions and research strategies. Biological epistasis is the result of physical interactions among biomolecules within gene regulatory networks and biochemical pathways in an individual such that the effect of a gene on a phenotype is dependent on one or more other genes. In contrast, statistical epistasis is defined as deviation (...) from additivity in a mathematical model summarizing the relationship between multilocus genotypes and phenotypic variation in a population. The goal of this essay is to review definitions and examples of biological and statistical epistasis and to explore the relationship between the two. Specifically, we present and discuss the following two questions in the context of human health and disease. First, when does statistical evidence of epistasis in human populations imply underlying biomolecular interactions in the etiology of disease? Second, when do biomolecular interactions produce patterns of statistical epistasis in human populations?Answers to these two reciprocal questions will provide an important framework for using genetic information to improve our ability to diagnose, prevent and treat common human diseases. We propose that systems biology will provide the necessary information for addressing these questions and that model systems such as bacteria, yeast and digital organisms will be a useful place to start. BioEssays 27:637–646, 2005. © 2005 Wiley Periodicals, Inc. (shrink)

A current trend in bioethics considers genetic information as family property. This paper uses a logical approach to critically examine Matthew Liao’s proposal on the familial nature of genetic information as grounds for the duty to share it with relatives and for breach of confidentiality by the geneticist. The authors expand on the topic by examining the relationship between the arguments of probability and the familial nature of genetic information, as well as the concept (...) of harm in the context of genetic risk. Lastly, they examine the concept of harm in relation to the type of situations w the potential recipient of the information is not the person directly affected by the risk. (shrink)

Purpose The purpose of this paper is to inform or alert readers to the extensive use and ready availability of genetic information that poses varying degrees of social and legal danger. The eugenics movement of the 1920s and the general acceptance of genetic essentialism provide context for considering contemporary examples of the problem. Design/methodology/approach This paper takes an argumentative approach, supporting proposals with ideas from historical and current research literature. Findings The limits of data protection, extensive use (...) of direct-to-consumer genetic testing and use of genetic information in white nationalist circles portend a resurgence of eugenic beliefs from a century ago. Social implications Research-based recommendations may help to avoid extreme consequences by encouraging people to make informed decisions about the use of genetic information. Originality/value The paper counterposes contemporary understanding of genetic testing and data accessibility with the much older ideology of eugenics, leading to concerns about how white nationalists might further their aims with 21st century technology. (shrink)

The visual behaviour of consumers buying products in a supermarket was measured and used to analyse the stages of their decision process. Traditionally metrics used to trace decision-making processes are difficult to use in natural environments that often contain many options and unstructured information. Unlike previous attempts in this direction, our methodology reveals differences between a decision-making task and a search task. In particular the second stage of a decision task contains more re-dwells than the second stage of (...) a comparable search task. This study addresses the growing concern of taking eye movement research from the laboratory into the ‘real-world’, so findings can be better generalised to natural situations. (shrink)

This paper assesses the effect of DNA barcoding—the use of informative genetic markers to identify and discriminate between species—on taxonomy. Throughout, we interpret this in terms of _varipraxis_, a concept we introduce to make sense of the treatment of biological variation by scientists and other practitioners. From its inception, DNA barcoding was criticised for being reductive, in attempting to replace multiple forms of taxonomic evidence with just one: DNA sequence variation in one or a few indicative genes. We show, (...) though, how DNA barcoding has not narrowed or reduced taxonomy in the way it was projected to. We examine the development and implementation of DNA barcoding across three kingdoms of life: animals, plants, and protists. Through this, we demonstrate that for DNA barcoding to work, the range of acceptable intra-specific variation needs to be demarcated from variation deemed to be characteristic of inter-specific differences. Consequently, biological processes responsible for particular patterns of variation need to be investigated and understood. This encourages an integrative disposition towards understanding and explaining the evolutionary processes affecting the rate and nature of change at the nucleotide level. We detail how the impact of DNA barcoding has manifested differently across the three kingdoms we examine, assessing this in terms of the ontological commitments that are held and instantiated in practice. Based on this evaluation, we consider the problem of studying multi-kingdom communities, and assess the consequences of our analysis for understanding classification and taxonomy. (shrink)

The use of genetic testing has prompted the question of whether insurance companies should be able to use predictive genetic test results (GTRs) in their risk classification of clients. While some jurisdictions have passed legislation to prohibit this practice, the UK has instead adopted a voluntary code of practice that merely restricts the ways in which insurance companies may use GTRs. Critics have invoked various theories of justice to argue that this approach is unfair. However, as well as (...) sometimes relying on somewhat idealised assumptions, these analyses have tended to invoke theories that have wide-ranging and highly revisionary implications for insurance. Moreover, they fail to adequately engage with a conception of justice that plausibly undergirds the status quo approach to insurance in the UK. I argue that it is a mistake to simply invoke a single contestable theory in seeking to develop sound policy on the use of GTRs in insurance. To that end, in this paper, I outline three plausible principles of justice that policy on this issue ought to balance: A principle of equity, a principle of equal access and a principle of need. In doing so, I shall offer a pluralist justice-based argument in support of the spirit, if not the precise letter, of the UK approach. (shrink)

This paper describes model building and manipulation in the solution of problems in mechanics. An automatic problem solver, MECHO, solving problems in several areas of mechanics, employs (1) a knowledge base representing the semantic content of the particular problem area, (2) a means-ends search strategy similar to GPS to produce sets of simultaneous equations and (3) a “focusing” technique, based on the data within the knowledge base, to guide the GSP-like search through possible equation instantiations. Sets of predicate logic statements (...) are employed to describe this model building activity. These clauses are used to give information content to the knowledge base and provide both basis and guidance for the goal driven search.It is hypothesized that humon subjects solving mechanics problems employ similar model building techniques. Protocols of several subjects are presented and comparisons are drawn with the traces of the automated problem solver. Adjustments are made to the program to provide a better fit of traces to protocols. Some implications are presented for using a rule based model for describing human problem solving performance in solving mechanics problems. (shrink)

ABSTRACTAs both a geneticist and a Nigerian living in the United States, the author responds to the prospect of African Americans using genetic science to trace their ancestry to the African continent. He articulates concerns about both the limitations of the science to offer satisfying, accurate, and meaningful results, and the ability of individuals to make real, life‐altering sense of these results. However, he notes that given the history and impact of slavery on African Americans, the desire (...) to trace roots to Africa is both real and understandable. (shrink)

In clinical research – whether pharmaceutical, genetic or biomarker research – it is important to protect research participants’ autonomy and to ensure or strengthen their control over health-related decisions. Empirical–ethical studies have argued that both the ethical concept and the current legalistic practice of informed consent should be adapted to the complexity of the clinical environment. For this, a better understanding of recruitment, for which also the physician–patient relationship plays an important role, is needed.Our aim is to ethically reflect (...) communication processes by identifying patterns used by physicians to motivate patients’ participation in clinical research and to assess whether patients also use these patterns in formulating their own research motivation. We conducted a secondary analysis with empirical data from a research project involving physicians and patients in a clinical research setting of a biomarker study for rectal cancer treatment. Our empirical data included observations of physician–patient consultations ( n = 54) and semi-structured interviews with patients ( n = 40). Overall, we collected 93 interviews.We found two dominant communication patterns, which physicians applied for motivating patients to take part in this research study. Some forms of these patterns tend to mislead patients’ understanding, while others could justifiably be applied in this consultation setting without undermining patients’ autonomy. This insight that the physician–patient communication has a strong influence on patients increases the importance to strengthen physicians’ ethically acceptable communication patterns regarding research participation.We further suggest that there is a need for a critical reflection of the ethics committee’s requirements for information regarding research participation. (shrink)

Within the medical, legal and bioethical literature, there has been an increasing concern that the information derived from genetic tests may be used to unfairly discriminate against individuals seeking various kinds of insurance; particularly health and life insurance. Consumer groups, the general public and those with genetic conditions have also expressed these concerns, specifically in the context of life insurance. While it is true that all insurance companies may have an interest in the information obtained from (...) genetic tests, life insurers potentially have a very strong incentive to (want to) use genetic information to rate applicants, as individuals generally purchase their own cover and may want to take out very large policies. This paper critically focuses on genetic information in the context of life insurance. We consider whether genetic information differs in any relevant way from other kinds of non-genetic information required by and disclosed to life insurance companies by potential clients. We will argue that genetic information should not be treated any differently from other types of health information already collected from those wishing to purchase life insurance cover. (shrink)

Description courte (Électre, 2019) : Une étude d'un des principaux axes de réflexion du philosophe des sciences et de la nature Raymond Ruyer (1902-1987). À la lumière des découvertes de l'embryogenèse et en s'appuyant par ailleurs sur la théorie de l'information, il proposa une interprétation des concepts unificateurs de la cybernétique mécaniste. -/- Short Descriptor (Electre 2019): A study of one of the main axes of reflection of the French philosopher of science and of nature Raymond Ruyer (1902-1987). Relying (...) on the discoveries about embryogenesis, and also with the use of information theory, Ruyer proposed an interpretation of the main unifying concepts of mechanistic cybernetics. -/- Cet ouvrage propose une étude fouillée d'un des principaux axes de réflexion du philosophe des sciences et de la nature français Raymond Ruyer (1902–1987) : la cybernétique. Après avoir proposé une philosophie structuraliste, Ruyer la modifia à la lumière des découvertes de l'embryogenèse, puis il proposa une interprétation des concepts unificateurs de la cybernétique mécaniste. Réfléchissant sur cette dernière et sur la théorie de l'information, en particulier sur l'origine de l'information, il défendit que cette cybernétique n'était qu'une lecture inversée de la vraie cybernétique, qui nous donnerait de lire dans l'expérience même les traces du pouvoir morphogénétique, appréhendé comme un champ axiologique. Dans un texte résumant son propre parcours, Ruyer affirma finalement que la critique de la théorie de l'information « peut donner […] l'espoir d'aboutir à quelque chose comme une nouvelle théologie. » Les idées directrices de Ruyer sont tout particulièrement contextualisées ici à partir de la question du développement des formes en biologie, et de celles de la génétique, de la genèse stochastique de l'ordre, et de l'identification mentale ou physique de l'information. Il se termine en départageant ce qui est théologique et axiologique dans ce projet de métaphysique qui, bien que resté inachevé, n'en représente pas moins le plus impressionnant conçu en France au siècle dernier. – This book offers an in-depth study of one of the main axes in the reflection of French philosopher of science and nature Raymond Ruyer. In a text summarising his own development, Ruyer stated about the philosophical critique of information theory that it "is what can give the most long-lasting hope of getting to something like a new theology." After propounding a structuralist philosophy, and distinguishing between form and structure, to then modify it in the light of discoveries in embryogenesis, Ruyer offered a re-evaluation of the unifying concepts of mechanistic cybernetics. Thinking about it and about information theory, he defended the idea that this cybernetics was in reality an inverted reading of the real one, which would allow us to read in experience itself traces of the morphogenetic power, apprehended as the axiological field. On some transversal points, the development of forms in biology and genetics, the stochastic genesis of order, the identification of information with either psychological and mental, or physical reality, behaviour, and the access to meaning, this work exposes the main ideas of Ruyer while situating them in the context of the breadth of others' contributions. It ends by determining what is theological and axiological in this project for a metaphysics which, although unfinished, is nevertheless the most impressive effort done in France in the last century. – Available on i6doc dot com (ISBN 978-2-930517-56-8 ; pdf 978-2-930517-57-5). (shrink)

In the paper ‘Genetic information, insurance, and a pluralistic approach to justice’, Jonathan Pugh1 develops an argument from unresolved pluralism in our theories of justice, via the pluralism this occasions in relation to the specific question of the use of genetic test results in insurance underwriting, to the conclusion that the UK regulatory approach in relation to the use of GTRs in insurance is broadly correct.1 Pugh’s argument is wide-ranging and I cannot provide a complete critique of (...) it in this short comment, but I will gesture towards some strands of the argument that are potentially problematic. The first potential problem in the argument is that Pugh bases his argument on a very extensive range of accounts of justice, including pure maximising consequentialism, strict egalitarianism and libertarianism, among many others. If these are all accounts of justice, it is not strange that there is pluralism of conclusions in relation to a specific question of justice or discrimination, such as the use of GTRs in the underwriting of specific kinds of insurance contracts. Pugh’s range, for instance, includes accounts of justice that deny the direct importance of distributive concerns as well as accounts that see distributive concerns as crucial. These accounts disagree not only about the answer to Pugh’s question but also about …. (shrink)

Despite the great expansion and many benefits of information and communication technologies in healthcare, the attitudes of Polish general practitioners to e-health have not been explored. The aim of this study was to determine the GPs’ perception of ICT use in healthcare and to identify barriers to the adoption of EMR in the Podlaskie Voivodeship. Online and telephone surveys were conducted between April and May 2013. Responses from 103 GP practices, 43% of all practices in the region, were analysed. (...) The results showed that 67% of the respondents agreed that IT systems improve quality of healthcare services. In the GP group who declared at least partial EMR implementation, 71.4% see the positive impact of IT on practice staff processes and 66.1% on personal working processes. In this group, more than three-quarters of GPs did not see any positive impact of ICT on the average number of patients treated per day, number of patients within the practice or scope of services. The four most common barriers to EMR implementation were: lack of funds, risk of a malfunction in the system, resistance to change, and lack of training and proper information. Although the use of ICT by Polish GPs is limited, their attitude to e-health is generally positive or neutral and resembles the overall pattern in Europe. Barriers identified by GPs need to be taken into account to ensure the effective implementation of e-health across the country. (shrink)

The INBIOSA project brings together a group of experts across many disciplines who believe that science requires a revolutionary transformative step in order to address many of the vexing challenges presented by the world. It is INBIOSA’s purpose to enable the focused collaboration of an interdisciplinary community of original thinkers. This paper sets out the case for support for this effort. The focus of the transformative research program proposal is biology-centric. We admit that biology to date has been more fact-oriented (...) and less theoretical than physics. However, the key leverageable idea is that careful extension of the science of living systems can be more effectively applied to some of our most vexing modern problems than the prevailing scheme, derived from abstractions in physics. While these have some universal application and demonstrate computational advantages, they are not theoretically mandated for the living. A new set of mathematical abstractions derived from biology can now be similarly extended. This is made possible by leveraging new formal tools to understand abstraction and enable computability. [The latter has a much expanded meaning in our context from the one known and used in computer science and biology today, that is "by rote algorithmic means", since it is not known if a living system is computable in this sense (Mossio et al., 2009).] Two major challenges constitute the effort. The first challenge is to design an original general system of abstractions within the biological domain. The initial issue is descriptive leading to the explanatory. There has not yet been a serious formal examination of the abstractions of the biological domain. What is used today is an amalgam; much is inherited from physics (via the bridging abstractions of chemistry) and there are many new abstractions from advances in mathematics (incentivized by the need for more capable computational analyses). Interspersed are abstractions, concepts and underlying assumptions “native” to biology and distinct from the mechanical language of physics and computation as we know them. A pressing agenda should be to single out the most concrete and at the same time the most fundamental process-units in biology and to recruit them into the descriptive domain. Therefore, the first challenge is to build a coherent formal system of abstractions and operations that is truly native to living systems. Nothing will be thrown away, but many common methods will be philosophically recast, just as in physics relativity subsumed and reinterpreted Newtonian mechanics. -/- This step is required because we need a comprehensible, formal system to apply in many domains. Emphasis should be placed on the distinction between multi-perspective analysis and synthesis and on what could be the basic terms or tools needed. The second challenge is relatively simple: the actual application of this set of biology-centric ways and means to cross-disciplinary problems. In its early stages, this will seem to be a “new science”. This White Paper sets out the case of continuing support of Information and Communication Technology (ICT) for transformative research in biology and information processing centered on paradigm changes in the epistemological, ontological, mathematical and computational bases of the science of living systems. Today, curiously, living systems cannot be said to be anything more than dissipative structures organized internally by genetic information. There is not anything substantially different from abiotic systems other than the empirical nature of their robustness. We believe that there are other new and unique properties and patterns comprehensible at this bio-logical level. The report lays out a fundamental set of approaches to articulate these properties and patterns, and is composed as follows. -/- Sections 1 through 4 (preamble, introduction, motivation and major biomathematical problems) are incipient. Section 5 describes the issues affecting Integral Biomathics and Section 6 -- the aspects of the Grand Challenge we face with this project. Section 7 contemplates the effort to formalize a General Theory of Living Systems (GTLS) from what we have today. The goal is to have a formal system, equivalent to that which exists in the physics community. Here we define how to perceive the role of time in biology. Section 8 describes the initial efforts to apply this general theory of living systems in many domains, with special emphasis on crossdisciplinary problems and multiple domains spanning both “hard” and “soft” sciences. The expected result is a coherent collection of integrated mathematical techniques. Section 9 discusses the first two test cases, project proposals, of our approach. They are designed to demonstrate the ability of our approach to address “wicked problems” which span across physics, chemistry, biology, societies and societal dynamics. The solutions require integrated measurable results at multiple levels known as “grand challenges” to existing methods. Finally, Section 10 adheres to an appeal for action, advocating the necessity for further long-term support of the INBIOSA program. -/- The report is concluded with preliminary non-exclusive list of challenging research themes to address, as well as required administrative actions. The efforts described in the ten sections of this White Paper will proceed concurrently. Collectively, they describe a program that can be managed and measured as it progresses. (shrink)

Increasing emphasis on genetic research means that growing numbers of human research projects in Australia will involve complex issues related to genetic privacy, familial information and genetic epidemiology. The Office of Population Health Genomics (Department of Health, Western Australia) hosted an interactive workshop to explore the ethical issues involved in the disclosure of genetic information, where researchers and members of human research ethics committees (HRECs) were asked to consider several case studies from an ethical (...) perspective. Workshop participants used a variety of approaches to examine the complex ethical issues encountered, but did not consistently refer to the values and principles outlined in the National Statement on Ethical Conduct in Human Research (NHMRC 2007) or apply rational ethical approaches. Overall, the data suggested that both researchers and HREC members may benefit from further education and support regarding the application of ethical frameworks to the issues encountered in genetic research. (shrink)

Phylogenies are increasingly being used to investigate human history, diversification and cultural evolution. While using phylogenies in this way is not new, new modes of analysis are being applied to inferring history, reconstructing past states, and examining processes of change. Phylogenies have the advantage of providing a way of creating a continuous history of all current populations, and they make a large number of analyses and hypothesis tests possible even when other forms of historical information are patchy or (...) nonexistent. In common with approaches taken in other historical sciences, phylogenetics is a way of reconstructing past and processes using the traces left in the present day. Trees, based on DNA, language, cultural traits, or other evidence, are now sprouting all over the academic landscape. The increasing use of phylogenetic analysis to understand human cultural evolution has been embraced by some, and scorned by others. The purpose of this article is not to review methods and applications of phylogenetic analyses, nor to consider the growing field of cultural phylogenetics, but, more broadly, to explore how we interpret phylogenies as narratives about human diversification. The first half of the article deals with meaning: phylogenies are often interpreted as histories, but a bifurcating tree is at best an abstract representation of history, and its connections to past events and processes is dependent on the data used, the assumptions made in the analysis, and the degree to which nodes in the tree (where one lineage splits into two) can be connected to change and movement in real populations. The second half of the article explores the purpose of phylogenies: a tree does not have to be a literal history of human lineages in order to be useful for investigating processes of human diversification. Phylogenies should not be read as accurate records of history, but as a way of exploring plausible explanations for current patterns of diversity. Phylogenies provide important information that can be used to test ideas about human diversity, and can help to guard against errors of inference arising from statistical artifacts. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Provoking a ConversationDavid H. PorterLee T. Pearcy's The Grammar of Our Civility: Classical Education in America (Baylor University Press, Waco, Tex. 2005) is a book every classicist should read. Pearcy's focus is on the state of classics in our country today: where we are, how we got there, where we need to go. His book is wide-ranging, tightly argued, and carefully researched. Pearcy's assessment of the present state of (...) classics in America strikes me as overly bleak, but his analysis deserves our close attention. Chapters 1 and 2, which trace the history of classical studies in Europe and America since the Renaissance, are filled with valuable information and insights; chapter 3 dissects four interlinked arguments that, to Pearcy's thinking, explain the parlous state of classics today—and threaten its future survival; and chapter 4 offers thoughtful suggestions as to how classicists might respond to these challenges. I doubt that most readers will agree with all of Pearcy's analysis—I certainly do not—but I found his book consistently stimulating. He writes that his purpose is to provoke a conversation, not to solve a problem (118); it is a conversation that will benefit us all, and this book is a welcome and timely catalyst.Pearcy's starting point, and the theme to which he repeatedly returns, is what he identifies as an essential difference between classical studies in Europe (including Great Britain) and classical studies in America. To quote from Pearcy's account of Vittorino da Feltre, whom he sees as an architect of what we now call "liberal education," classical education was designed above all "to take those who would... rule and those who might be admitted to the governing class and to form their minds and souls in such a way that they would be the best rulers (8)... "Renaissance classical education... [was] designed to educate members of the governing class by exposing them to the best patterns of conduct, modes of thinking, and products of culture..." (9). In Europe this form of education made sense in that its presupposition of a governing class matched the social and political realities of the countries in question. In America, by contrast, the advent of democracy undermined the central assumptions of such education and threatened its relevance to our society: "The necessary openness of thought in a democracy has a consequence that is fatal to [End Page 595] the paradigm of classical liberal arts education. In a democratic society, the freedom and theoretical equality of all citizens make it necessary to avoid privileging any single set of beliefs or ideas" (23).Pearcy's hypothesis is thought-provoking, but it strikes me as overly neat. A quick glance at two individuals, one English, the other American, offers some corroboration and also raises some intriguing questions. Leonard Woolf majored in classics at St. Paul's School and Cambridge, and, though his origins were not "aristocratic," upon graduation he entered the ranks of the governing class as a civil servant in Ceylon. The progression matches Pearcy's model, and Woolf even comments on it in terms similar to those Pearcy uses: "The male members of the British aristocracy of intellect went automatically to the best public schools, to Oxford and Cambridge, and then into all the most powerful and respectable professions."1 By contrast, S. S. McClure, the American publisher, migrated from Ireland to the States at age nine as a virtual pauper, spent eight years putting himself through Knox College, and chose to major in classics for reasons similar to those Pearcy identifies as the basis for classical education: "During the years that he reads and studies Greek a boy gets certain standards that he uses all the rest of his life, long after he has forgotten grammar and vocabulary."2 Unlike Woolf, however, McClure found to his dismay that though he had graduated third in a class of thirty, his classical education did not open doors to a professional career: "I talked with other boys, and found that most of them had arranged for the immediate future. One classmate was going into his father's law office; another was going to enter his uncle's... (shrink)

BackgroundThe return of genetics and genomics research results has been a subject of ongoing global debate. Such feedback is ethically desirable to update participants on research findings particularly those deemed clinically significant. Although there is limited literature, debate continues in African on what constitutes appropriate practice regarding the return of results for genetics and genomics research. This study explored perspectives and ethical considerations of Ugandan genomics researchers regarding the return of genetics and genomics research results.MethodsThis was a qualitative study that (...) employed in-depth interviews. Thirty participants were purposively selected based on their expertise as genomics researchers in Uganda. Data were analysed through content analysis along the main themes of the study using a comprehensive thematic matrix, to identify common patterns arising from the narratives. NVivo software 12 was used to support data analysis.ResultsThe return of genetics and genomics research results was generally acceptable to researchers, and some indicated that they had previously returned individual or aggregate results to participants and communities. The main reasons cited for sharing research results with participants included their clinical utility, actionability and overall benefit to society. Ethical considerations for appropriate return of results included a need for effective community engagement, genetic counselling prior to disclosure of the results, adequate informed consent, and proper assessment of the implications of, or consequences of returning of results. However, the approaches to return of results were perceived as unstandardized due to the lack of appropriate regulatory frameworks.ConclusionsThe return of genetic and genomic research results is generally acceptable to researchers despite the lack of appropriate regulatory frameworks. Ethical considerations for return of genetics and genomics research results are highly divergent, hence the need for national ethical guidelines to appropriately regulate the practice. (shrink)

Different patterns of mitochondrial and Y-chromosome diversity have been cited as evidence of long-term patrilocality in human populations. However, what patterns are expected depends on the nature of the sampling scheme. Samples from a local region reveal only the recent demographic history of that region, whereas sampling over larger geographic scales accesses older demographic processes. A historical change in migration becomes evident first at local geographic scales, and alters global patterns of genetic diversity only after (...) sufficient time has passed. Analysis of forager populations in the ethnographic record suggests that patrilocality may not have predominated among pre-agricultural humans. The higher female migration rate inferred by some genetic studies may reflect a shift to patrilocality in association with the emergence of agriculture. A recent global survey does not show the expected effects of higher female migration, possibly because the sampling scheme used for this study is accessing pre-agricultural human migration patterns. In this paper, we show how the demographic shift associated with agriculture might affect genetic diversity over different spatial scales. We also consider the prospects for studying sex-biased migration using the X-linked and autosomal markers. These multi-locus comparisons have the potential of providing more robust estimates of sex differences than Y-linked and mitochondrial data, but only if a very large number of loci are included in the analysis. BioEssays 28: 290–300, 2006. © 2006 Wiley Periodicals, Inc. (shrink)

Prenatal genetic testing is becoming available for an increasingly broad set of diseases, and it is only a matter of time before parents can choose to test for hundreds, if not thousands, of genetic conditions in their fetuses. Should access to certain kinds of fetal genetic information be limited, and if so, on what basis? We evaluate a range of considerations including reproductive autonomy, parental rights, disability rights, and the rights and interests of the fetus as (...) a potential future child. We conclude that parents should be able to access information that could be useful during pregnancy, but that testing for non-medical information should be limited. Next, we argue that the government lacks a compelling state interest in regulating prenatal genetic testing and propose that regulation should occur through medical professional organizations. Finally, we present a framework for determining what testing physicians should recommend, offer neutrally, or not offer at all. (shrink)

Research in an emergent field requires the researcher to consider appropriate methodologies. This paper describes research that attempts to discover how new technologies can influence local democratic engagement. It describes an interpretive research project informed by critical social theory that uses an explanatory mixed methods approach, combining two sequential data collection methods. The study incorporates a survey instrument and qualitative interviewing, analysed using Grounded Theory Methodology. The paper will describe the context for the research, the choice of a mixed (...) methods approach and relate this to an epistemology and ontology. The paper does not discuss the research findings but focuses on the research process and methodology and provides reflection on the outcomes and the challenges of the chosen approach. It demonstrates that mixed methods research is appropriate in a narrow and emergent field of study and that it offers methodological flexibility whilst promoting rigour and grounded results. (shrink)

Purpose Human genomic research demands very large pools of data to generate meaningful inference. Yet, the sharing of one’s genetic data for research is a voluntary act. The collection of data sufficient to fuel rapid advancement is contingent on individuals’ willingness to share. Privacy risks associated with sharing this unique and intensely personal data are significant. Genetic data are an unambiguous identifier. Public linkage of donor to their genetic data could reveal predisposition to diseases, behaviors, paternity, heredity, (...) intelligence, etc. The purpose of this paper is to understand individuals’ willingness to volunteer their private information in this high-risk/high-reward context. Design/methodology/approach The authors collect survey data from 273 respondents and use structural equation modeling techniques to analyze responses. Findings The authors find statistical support for our theorization. They find that while heightened awareness of the benefits and risks of sharing correlates with increased privacy concerns, the net impact is an increase in intention to share. Social implications The findings suggest that prescriptive awareness might be an effective tool with which policy-makers can gain the sufficient voluntary participation from individuals necessary to drive large-scale medical research. Originality/value This study contributes a theoretically and empirically informed model which demonstrates the impact of awareness and privacy concern on individuals’ willingness to share their genetic data for large-scale HGR. It helps inform a rising class of data sufficiency problems related to large-scale medical research. (shrink)

RNA localization is a powerful strategy used by cells to localize proteins to subcellular domains and to control protein synthesis regionally. In germ cells, RNA targeting has profound implications for development, setting up polarities in genetic information that drive cell fate during embryogenesis. The frog oocyte offers a useful system for studying the mechanism of RNA localization. Here, we discuss critically the process of RNA localization during frog oogenesis. Three major pathways have been identified that are temporally and (...) spatially separated in oogenesis. Each pathway uses a different mechanism to effect RNA localization. In some cases, localization elements within the 3' untranslated region have been identified and have provided unique insights into the localization process. This important field is still in its infancy, however, and much remains to be learned. BioEssays 21:546–557, 1999. © 1999 John Wiley & Sons, Inc. (shrink)

This study used an emic approach to examine the dynamics of online romance fraud, focusing on the migration of offenders from Nigeria to Ghana. We collected data through qualitative methods, such as semi-structured interviews and focus group discussions. Ghanaian police officers and Nigerian law enforcement officers were consulted for their perspectives. Thematic analysis revealed key findings, including the migration patterns of Nigerian offenders to Ghana and the institutionalisation of scamming enterprises. These findings shed light on the transnational (...) and structural factors driving online romance fraud in West Africa, highlighting both its global reach and the local mechanisms sustaining these criminal networks. This research contributes to a deeper understanding of regional and international cybercrime dynamics, offering valuable insights to inform policy and law enforcement strategies. (shrink)

Current genetics studies often refer to notions from information science. The purpose of this paper is to summarize and structure the different notions of information used in biology, as a step towards developing a taxonomy of information. Within this framework we propose an extension of Floridi’s conceptual model of information. We also make use of the concept of specified information and show that functional information and many other notions of information are either special (...) cases of, or are closely related to, specified information. Since functionality of the proteins that genes code serves as an external and independent specification, this makes it possible to define genetic information in a way that includes semantic aspects. In particular, we discuss how to understand the qualitative aspects of genetic information, how to measure its quantitative aspects, and how variants of Shannon’s information measure can be applied to molecular sequence data of protein families. While a mathematical framework may not be able to incorporate all that is included within biological information, some aspects of it allow for statistical modelling. This is especially true if we restrict our focus on the discipline of genetics. The concept of genetic information is still disputed because it attributes semantic traits to what seems to be regular biochemical entities. Some researchers maintain that the use of information in biology is just metaphorical and may even be misleading. We argue that the foundation of the metaphorical view is relatively weak given the current findings in bioinformatics and show that the present understanding of genetics fits well into the context of the modern philosophy of information. The paper concludes that informational concepts have robust scientific applications at the level of genes. (shrink)

This article reviews and contrasts research findings in a variety of disciplines seeking corroboration for theories of settlement in Madagascar. Evidence is considered from the fields of linguistics, archaeology (studies of pottery), cultural anthropology and genetic analysis, leading to conclusions broadly supporting the thesis of Austronesian migrations directly to Madagascar from Kalimantan and Sulawesi around the 5th and 7th centuries CE, which combined with a Bantu group originating from the region of Mozambique. The article nevertheless warns against attributing too (...) much to individual discipline studies, concluding that only genetic analysis can provide conclusive proof, and this only when informed by prior anthropological and historical indicators. (shrink)

The acquisition of genetic information (GI) confronts both the affected individuals and healthcare providers with difficult, ambivalent decisions. Genetic responsibility (GR) has become a key concept in both ethical and socioempirical literature addressing how and by whom decision-making with respect to the morality of GI is approached. However, despite its prominence, the precise meaning of the concept of GR remains vague. Therefore, we conducted a systematic literature review on the usage of the concept of GR in qualitative, (...) socioempirical studies, to identify the main interpretations and to provide conceptual clarification. The review identified 75 studies with primarily an Anglo-American setting. The studies focused on several agents: the individual, the family, the parent, the healthcare professional, and the institution and refer to the concept of GR on the basis of either a rational/principle-oriented approach or an affective/relational approach. A subtype of the rational/principle-oriented approach is the reactive approach. The review shows how the concept of GR is useful for analyzing and theorizing about socioempirical findings within qualitative socioempirical studies and also reveals conceptual deficits in terms of insufficient theoretical accuracy and heterogeneity, and in the rarity of reflection on cultural variance. The vagueness and multiplicity of meanings for GR in socioempirical studies can be avoided by more normative-theoretical explication of the underlying premises. This would provide a higher degree of differentiation of empirical findings. Thereby, the complex findings associated with the individual and social implications of genetic testing in empirical studies can be better addressed from a theoretical point of view and can subsequently have a stronger impact on normative and policy debates. (shrink)

The debate continues about whether people have a duty to pass on the positive results of their genetic tests to relatives who are at risk from the same disease, and, should they refuse, whether physicians and genetic counselors then have the duty to do so. To date, the role and views of nurses in this debate have not been investigated. In our study, a sample of Israeli nurses, untrained in genetics, were asked for their theoretical opinions and what (...) practical steps they would take in the case of patients' refusal to disclose. The nurses were very sure that patients should inform their families but were equally sure that nurses must respect their decision to disclose or not. Few said they would take practical steps to disclose information if the patient objected. The authors believe that the most useful and appropriate role for nurses in this field is in working to bring about co-operation between patients and family members. (shrink)

This paper offers a renewed construction grammar analysis of linguistic constructions in a diachronic perspective. The present theory, termedAgentive Cognitive Construction Grammar(AgCCxG), is informed byactive inference(AIF), a process theory for the comprehension of intelligent agency. AgCCxG defends the idea that language bear traces of non-linguistic, bodily-acquired information that reflects sémiotico-biological processes of energy exchange and conservation. One of the major claims of the paper is that embodied cognition has evolved to facilitate ontogenic mental alignment among humans. This is demonstrated (...) by the results of a corpus study in which the patterns of association between verbs, the particle UP and argument structure in Old and Middle English have been studied. The conclusion is that, similar to biological systems, the linguistic sign system displays patterns of equilibrium and non-equilibrium. In other words, while in Old English usage near equilibrium was reached through the use of a conservative set of constructional semiotic templates (attachment patterns), associated with motor modalities, Middle English displays high rates of randomness resulting in a less stable, yet distinct, system of constructional attachment. (shrink)

The discovery of the molecular structure of deoxyribonucleic acid and the science of molecular biology have profoundly changed medicine’s diagnostic capability and promise to transform the therapeutic realm. When some genetic disorders are diagnosed, physicians can intervene for prevention or treatment. While the basic structure of DNA is the same for all human beings, no two individuals, other than identical twins, have the same DNA sequence. This discovery has had important repercussions in the criminal justice system, where DNA can (...) serve as an identification tool.At the crossroads of these different uses of DNA, there are great concerns about potential misuses of genetic information. Preventing disease, curing illness, and convicting criminals are all seen as worthwhile uses of the technology, but concerns of potential misuse in medicine or in the criminal justice system are not unfounded. A 1998 American Medical Association study showed that 68 percent of patients had fears that their genetic test results would be used against them by their employers or insurers. Others, pointing to racial profiling, have suggested that we may now face genetic profiling. (shrink)

The background of this paper is the ongoing dismantling of the social insurance systems in favour of commercialisation and privatisation of insurances needed for illness, old age and premature death. This combined with the increased possibility of using genetic testing for differentiating personal insurance premiums has the potentiality of creating a ‘genetic proletariat’ — an uninsurable high-risk population. The common way of handling this problem in Sweden, and many other developed countries around the North Atlantic, has been (...) to regulate insurance companies’ right to ask for and use genetic information in various ways. There is a distinction between partial regulation (that allows insurance companies access to genetic information from genetic tests already made, sometimes only above a specified amount, but not to demand new tests) and total regulation (that forbids insurance companies to ask for or use any genetic information). I will argue that these forms of regulation probably will have adverse consequences given the dismantling of collective social insurance systems. If this is convincing, a better way to solve the problem of an uninsurable high-risk population (and other problems) is to resurrect the collective, obligatory insurance systems in which the individual risk profile does not constitute a basis for premium determination. Both arguments cast in terms of consequences and justice render support for this conclusion. (shrink)

Genetic information about one individual often has medical and reproductive implications for that individual’s relatives. There is a debate about whether policy on transmitting genetic information within the family should change to reflect this shared aspect of genetic information. Even if laws on medical confidentiality remain unchanged, there still remains the question of professional practice and whether, to what extent and by what means professionals should encourage disclosure within a family. The debate so far (...) has tended to focus on who has a right to genetic information, or has a right to decline genetic information, frequently drawing on the notion of individual autonomy. There are significant divergences within this debate, and difficulties with the use of autonomy in this context have been noted. This paper draws on theoretical considerations as well as on qualitative empirical data to show that shifting from talk of autonomy to talk of integrity will greatly enrich and illuminate the issues. It becomes possible to gain deeper insights into the ethical significance of the timing and the manner of such communication, the character of recipients of knowledge, and the nuanced nature of communication and different levels of understanding within a family. (shrink)

Over the past decade, there has been an extensive debate about whether researchers have an obligation to disclose genetic research findings, including primary and secondary findings. There appears to be an emerging (but disputed) view that researchers have some obligation to disclose some genetic findings to some research participants. The contours of this obligation, however, remain unclear. -/- As this paper will explore, much of this confusion is definitional or conceptual in nature. The extent of a researcher’s obligation (...) to return secondary and other research findings is often limited by reference to terms and concepts like “incidental,” “analytic validity,” “clinical validity,” “clinical relevance,” “clinical utility,” “clinical significance,” “actionability,” and “desirability.” These terms are used in different ways by different writers to describe obligations in different sorts of cases. -/- Underneath this definitional confusion is a general notion, supported by much of the literature, that findings only need to be disclosed when they surpass certain presumably objective or measureable thresholds, such as medical importance or scientific reproducibility. The problem is that there is significant variability in the way that these terms and concepts are used in the literature and, as such, in defining the scope of an obligation to return findings that surpasses the relevant thresholds. -/- The goal of this paper is to analyze the definitional muddle underlying the debate about returning genetic research findings, with the hope of answering a few questions. First, what is the range of definitions being used in this debate? Based on an extensive literature review, Part 1 will lay out a range of articulated definitions for each relevant term, with the goal of categorizing them into a handful of distinct types. Part 2 explains the definitional redundancy and confusion in the current literature, and, drawing from the terminological patterns identified in Part 1, outlines more cohesive building blocks to inform the development of future disclosure frameworks.Our minimum goal in articulating these conceptual building blocks is to promote clearer articulations of, and distinctions between, future disclosure frameworks. More ambitiously, we suggest which definitions and conceptualizations we consider most appropriate to use in future disclosure frameworks. Here, we seek to balance benefits to participants through the disclosure of important information with the minimization of undue burdens on individual researchers and the research enterprise more generally. -/- Our analysis builds upon the central philosophical distinction between concepts and conceptions. The basic idea is that the “concept” of X refers to the general (and relatively uncontroversial) structure/shape of X, while various “conceptions” of X are more particular, filled out, and controversial elaborations of the concept. In other words, “concepts” of X will be formal representations of X, while “conceptions” of X will be substantive interpretations of the key elements and relationships operating within that formal framework. (Implicit in this distinction is an important point about the nature of disagreement – namely, that in order for two or more parties to “disagree” about X as opposed to simply talk past one another, there must be at least enough shared agreement about X to know that the parties are referring to the same thing. A concept of X provides this point of common agreement, while competing conceptions of X mark the areas where disagreement arises.) In this paper, we will employ this distinction in a fundamental way to clarify exactly where the primary disagreements arise in the debate over disclosing genetic research findings. -/- We propose that, underlying all the seeming confusion and disagreement, there are three central and widely agreed upon concepts at work in this debate—validity, value, and volition. The first two concepts concern the nature of the information itself. An obligation to disclose only exists when findings are valid and have value but there are competing conceptions of how to determine or define validity and valuableness. The third concept—volition—pertains not to the information but rather to the person to whom it will be disclosed. Does that person want or not want the information, and what is the best way of determining this? Here, too, competing conceptions arise. Our key point, though, is that almost all of the ethical disagreement arises because of competing conceptions of these three concepts. Understanding and appreciating this key point can help to refocus the substantive debate by providing some common ground to start from in determining how best to interpret these shared concepts. This refocusing can, ideally, produce more productive debate and facilitate some progress in resolving it. (shrink)

As knowledge increases about the human genome,prenatal genetic testing will become cheaper,safer and more comprehensive. It is likelythat there will be a great deal of support formaking prenatal testing for a wide range ofgenetic disorders a routine part of antenatalcare. Such routine testing is necessarilycoercive in nature and does not involve thesame standard of consent as is required inother health care settings. This paper askswhether this level of coercion is ethicallyjustifiable in this case, or whether pregnantwomen have a right (...) to remain in ignorance ofthe genetic make-up of the fetus they arecarrying. While information gained by genetictesting may be useful for pregnant women whenmaking decisions about their pregnancy, it doesnot prevent harm to future children. It isargued that as this kind of testing providesinformation in the interests of the pregnantwomen and not in the interests of any futurechild, the same standards of consent that arenormally required for genetic testing should berequired in this instance. (shrink)

RNA localization is a powerful strategy used by cells to localize proteins to subcellular domains and to control protein synthesis regionally. In germ cells, RNA targeting has profound implications for development, setting up polarities in genetic information that drive cell fate during embryogenesis. The frog oocyte offers a useful system for studying the mechanism of RNA localization. Here, we discuss critically the process of RNA localization during frog oogenesis. Three major pathways have been identified that are temporally and (...) spatially separated in oogenesis. Each pathway uses a different mechanism to effect RNA localization. In some cases, localization elements within the 3' untranslated region have been identified and have provided unique insights into the localization process. This important field is still in its infancy, however, and much remains to be learned. BioEssays 21:546–557, 1999. © 1999 John Wiley & Sons, Inc. (shrink)

The INBIOSA project brings together a group of experts across many disciplines who believe that science requires a revolutionary transformative step in order to address many of the vexing challenges presented by the world. It is INBIOSA’s purpose to enable the focused collaboration of an interdisciplinary community of original thinkers. This paper sets out the case for support for this effort. The focus of the transformative research program proposal is biology-centric. We admit that biology to date has been more fact-oriented (...) and less theoretical than physics. However, the key leverageable idea is that careful extension of the science of living systems can be more effectively applied to some of our most vexing modern problems than the prevailing scheme, derived from abstractions in physics. While these have some universal application and demonstrate computational advantages, they are not theoretically mandated for the living. A new set of mathematical abstractions derived from biology can now be similarly extended. This is made possible by leveraging new formal tools to understand abstraction and enable computability. [The latter has a much expanded meaning in our context from the one known and used in computer science and biology today, that is "by rote algorithmic means", since it is not known if a living system is computable in this sense (Mossio et al., 2009).] Two major challenges constitute the effort. The first challenge is to design an original general system of abstractions within the biological domain. The initial issue is descriptive leading to the explanatory. There has not yet been a serious formal examination of the abstractions of the biological domain. What is used today is an amalgam; much is inherited from physics (via the bridging abstractions of chemistry) and there are many new abstractions from advances in mathematics (incentivized by the need for more capable computational analyses). Interspersed are abstractions, concepts and underlying assumptions “native” to biology and distinct from the mechanical language of physics and computation as we know them. A pressing agenda should be to single out the most concrete and at the same time the most fundamental process-units in biology and to recruit them into the descriptive domain. Therefore, the first challenge is to build a coherent formal system of abstractions and operations that is truly native to living systems. Nothing will be thrown away, but many common methods will be philosophically recast, just as in physics relativity subsumed and reinterpreted Newtonian mechanics. -/- This step is required because we need a comprehensible, formal system to apply in many domains. Emphasis should be placed on the distinction between multi-perspective analysis and synthesis and on what could be the basic terms or tools needed. The second challenge is relatively simple: the actual application of this set of biology-centric ways and means to cross-disciplinary problems. In its early stages, this will seem to be a “new science”. This White Paper sets out the case of continuing support of Information and Communication Technology (ICT) for transformative research in biology and information processing centered on paradigm changes in the epistemological, ontological, mathematical and computational bases of the science of living systems. Today, curiously, living systems cannot be said to be anything more than dissipative structures organized internally by genetic information. There is not anything substantially different from abiotic systems other than the empirical nature of their robustness. We believe that there are other new and unique properties and patterns comprehensible at this bio-logical level. The report lays out a fundamental set of approaches to articulate these properties and patterns, and is composed as follows. -/- Sections 1 through 4 (preamble, introduction, motivation and major biomathematical problems) are incipient. Section 5 describes the issues affecting Integral Biomathics and Section 6 -- the aspects of the Grand Challenge we face with this project. Section 7 contemplates the effort to formalize a General Theory of Living Systems (GTLS) from what we have today. The goal is to have a formal system, equivalent to that which exists in the physics community. Here we define how to perceive the role of time in biology. Section 8 describes the initial efforts to apply this general theory of living systems in many domains, with special emphasis on crossdisciplinary problems and multiple domains spanning both “hard” and “soft” sciences. The expected result is a coherent collection of integrated mathematical techniques. Section 9 discusses the first two test cases, project proposals, of our approach. They are designed to demonstrate the ability of our approach to address “wicked problems” which span across physics, chemistry, biology, societies and societal dynamics. The solutions require integrated measurable results at multiple levels known as “grand challenges” to existing methods. Finally, Section 10 adheres to an appeal for action, advocating the necessity for further long-term support of the INBIOSA program. -/- The report is concluded with preliminary non-exclusive list of challenging research themes to address, as well as required administrative actions. The efforts described in the ten sections of this White Paper will proceed concurrently. Collectively, they describe a program that can be managed and measured as it progresses. (shrink)

Madole & Harden describe how genetics can be used in a causal framework. We agree with many of their opinions but argue that comparing within-family designs to experiments is unnecessary and that the proposed influence of genetics on behavior can be better described as inus conditions.