While human genetic research promises to deliver a range of health benefits to the population, genetic research that takes place in Indigenous communities has proven controversial. Indigenous peoples have raised concerns, including a lack of benefit to their communities, a diversion of attention and resources from non-genetic causes of health disparities and racism in health care, a reinforcement of “victim-blaming” approaches to health inequalities, and possible misuse of blood and tissue samples. Drawing on the international literature, this (...) article reviews the ethical issues relevant to genetic research in Indigenous populations and considers how some of these have been negotiated in a genomic research project currently under way in a remote Aboriginal community. We consider how the different levels of Indigenous research governance operating in Australia impacted on the research project and discuss whether specific guidelines for the conduct of genetic research in Aboriginal and Torres Strait Islander communities are warranted. (shrink)

We present SASC, Self-Adaptive Semantic Crossover, a new class of crossover operators for genetic programming. SASC operators are designed to induce the emergence and then preserve good building-blocks, using metacontrol techniques based on semantic compatibility measures. SASC performance is tested in a case study concerning the replication of investment funds.

Several important terms in biology have recently been criticized for not being "operational." In this paper the course of operationism in physics, psychology and genetics is sketched to show what effect this particular view on the meaning of scientific terms had on these disciplines. Then the biological species concept and the concept of homology are examined to see in what respects they are or are not "operational." One of the primary conclusions of this investigation is that few terms in science (...) are completely operational or completely nonoperational. Some scientific terms, especially theoretical terms, are a good deal less operational than others; but, far from being regrettable, this situation is essential if theoretical terms are to fulfill their systematizing function and if scientific theories are to be capable of growth. (shrink)

The sequence of nucleotide bases occurring in an organism’s DNA is often regarded as a codescript for its construction. However, information in a DNA sequence can only be regarded as a codescript relative to an operational biochemical machine, which the information constrains in such a way as to direct the process of construction. In reality, any biochemical machine for which a DNA codescript is efficacious is itself produced through the mechanical interpretation of an identical or very similar codescript. In these (...) terms the origin of life can be described as a bootstrap process involving the simultaneous accumulation of genetic information and the generation of a machine that interprets it as instructions for its own construction. This problem is discussed within the theoretical frameworks of thermodynamics, informatics and self-reproducing automata, paying special attention to the physico-chemical origin of genetic coding and the conditions, both thermodynamic and informatic, that a system must fulfil in order for it to sustain semiosis. The origin of life is equated with biosemiosis. (shrink)

Feferman argues that category theory cannot stand on its own as a structuralist foundation for mathematics: he claims that, because the notions of operation and collection are both epistemically and logically prior, we require a background theory of operations and collections. Recently [2011], I have argued that in rationally reconstructing Hilbert’s organizational use of the axiomatic method, we can construct an algebraic version of category-theoretic structuralism. That is, in reply to Shapiro, we can be structuralists all the way down (...) ; we do not have to appeal to some background theory to guarantee the truth of our axioms. In this paper, I again turn to Hilbert; I borrow his distinction between the genetic method and the axiomatic method to argue that even if the genetic method requires the notions of operation and collection, the axiomatic method does not. Even if the genetic method is in some sense epistemically or logically prior, the axiomatic method stands alone. Thus, if the claim that category theory can act as a structuralist foundation for mathematics arises from the organizational use of the axiomatic method, then it does not depend on the prior notions of operation or collection, and so we can be structuralists all the way up. (shrink)

This paper presents the architecture and initial feasibility results of a proto-type communication network that utilizes genetic programming to evolve services and protocols as part of network operation. The network evolves responses to environmental conditions in a manner that could not be preprogrammed within legacy network nodes a priori. A priori in this case means before network operation has begun. Genetic material is exchanged, loaded, and run dynamically within an active network. The transfer and execution of (...) code in support of the evolution of network protocols and services would not be possible without the active network environment. Rapid generation of network service code occurs via a genetic programming paradigm. Complexity and Algorithmic Information Theory play a key role in understanding and guiding code evolution within the network. (shrink)

The consolidation of the informational paradigm in molecular biology research concluded on a system to convert the epistemic object into an operational technological object and a stable epistemic product. However, the acceptance of the informational properties of genetic acids failed to clarify the meaning of the concept of information. The “information”’ as a property of the genetic molecules remained as an informal notion that allows the description of the mechanism of inheritance, but it was not specified in a (...) logic–semantic structure. The metaphorical implications associated with the idea of genes as molecules with meaning, questioned the linguistics that seemed too foreign to molecular biology. A reformulation of the concept of information in molecular biology was developed upon the theory of Claude Shannon. The node for the structural coupling between biology, physics and information theory was the identification of an analog structure between the coded messages of Shannon’s theory. (shrink)

Behavior genetics is a controversial science. For decades, scholars have sought to understand the role of heredity in human behavior and life-course outcomes. Recently, technological advances and the rapid expansion of genomic databases have facilitated the discovery of genes associated with human phenotypes such as educational attainment and substance use disorders. To maximize the potential of this flourishing science, and to minimize potential harms, careful analysis of what it would mean for genes to be causes of human behavior is needed. (...) In this paper, we advance a framework for identifying instances of genetic causes, interpreting those causal relationships, and applying them to advance causal knowledge more generally in the social sciences. Central to thinking about genes as causes is counterfactual reasoning, the cornerstone of causal thinking in statistics, medicine, and philosophy. We argue that within-family genetic effects represent the product of a counterfactual comparison in the same way as average treatment effects (ATEs) from randomized controlled trials (RCTs). Both ATEs from RCTs and within-family genetic effects are shallow causes: They operate within intricate causal systems (non-unitary), produce heterogeneous effects across individuals (non-uniform), and are not mechanistically informative (non-explanatory). Despite these limitations, shallow causal knowledge can be used to improve understanding of the etiology of human behavior and to explore sources of heterogeneity and fade-out in treatment effects. (shrink)

ArgumentThis paper examines the role of metaphors in science on the basis of a historical case study. The study explores how metaphors of “genetic information,” “genetic code,” and scripture representations of heredity entered molecular biology and reshaped experimentation during the 1950s and 1960s. Following the approach of the philosopher Hans Blumenberg, I will argue that metaphors are not merely a means of popularization or a specific kind of modeling but rather are representations that can unfold an operational force (...) of their own.While the influence of cybernetics and information theory on molecular biology is well documented in historical analysis throughout recent years, this paper offers new insights into the metaphysical and religious resonances of textual metaphors in the life sciences. The main focus will be on developments in Germany, in particular on the work of the German biochemist Gerhard Schramm. In this historical case study the interaction between metaphors and experimental practices will be discussed. The paper analyzes different phases in the use of metaphors during the 1950s and 1960s: it will explore how the metaphors of a “genetic alphabet” or of “genetic code” developed into a new research program and eventually attained ontological status in the early 1960s. At that time Schramm's use of textual metaphors was reminiscent of nineteenth-century German natural philosophy. In this case, the metaphorical shift shows how the metaphor of a “genetic text” or a “genetic code,” which were central for the emerging molecular biology, drew on older cultural traditions with all of their metaphysical and religious preoccupations. (shrink)

This essay reviews the long tradition of experimental genetics of the Drosophila indirect flight muscles (IFM). It discusses how genetics can operate in tandem with multidisciplinary approaches to provide a description, in molecular terms, of the functional properties of the muscle myofibril. In particular, studies at the interface of genetics and proteomics address protein function at the cellular scale and offer an outstanding platform with which to elucidate how the myofibril works. Two generalizations can be enunciated from the studies reviewed. (...) First, the study of mutant IFM proteomes provides insight into how proteins are functionally organized in the myofibril. Second, IFM mutants can give rise to structural and contractile defects that are unrelated, a reflection of the dual function that myofibrillar proteins play as fundamental components of the sarcomeric framework and biochemical “parts” of the contractile “engine”. BioEssays 23:1047–1063, 2001. © 2001 John Wiley & Sons, Inc. (shrink)

Homologous recombination (HR) is required to protect and restart stressed replication forks. Paradoxically, the Mrc1 branch of the S phase checkpoints, which is activated by replicative stress, prevents HR repair at breaks and arrested forks. Indeed, the mechanisms underlying HR can threaten genome integrity if not properly regulated. Thus, understanding how cells avoid genetic instability associated with replicative stress, a hallmark of cancer, is still a challenge. Here I discuss recent results that support a model by which HR responds (...) to replication stress through replicative and repair activities that operate at different stages of the cell cycle (S and G2, respectively) and in distinct subnuclear structures. Remarkably, the replication checkpoint appears to control this scenario by inhibiting the assembly of HR repair centers at stressed forks during S phase, thereby avoiding genetic instability. (shrink)

This study aims to develop a hybrid model to represent the human mind from a functionalist point of view that can be adapted to artificial intelligence. The model is not a realistic theory of the neural network of the brain but an instrumentalist AI model, which means that there can be some other representative models too. It had been thought that the provability of an axiomatic system requires the completeness of a formal system. However, Gödel proved that no consistent formal (...) system can prove its own consistency. There is a paradoxical limit to provability. Both consistency and completeness are impossible together. These formal limits form the basis of our model: the hybrid model of the mind consists of a formal axiomatic system and an evolutionary algorithm (EA) of intelligence, which also includes the genetic algorithm (GA) of consciousness. The GA of consciousness operates based on intentions, functioning in conjunction with the principles of EA. This collaboration allows it to transcend the paradoxical formal limits of intelligence. However, GA overcomes the problem of paradoxicality at the cost of producing illusions. Following this collaboration gives us a GA operating system. After all, if the rational optimization task of the GA in question produces illusions, then the rationality must lie elsewhere in the paradox. (shrink)

In this paper, I propose a populational schema of modeling that consists of: a linear AFSV schema, and a higher-level schema employing the genetic algorithm. The basic ideas of the proposed solution are as follows: whole populations of models are considered at subsequent stages of the modeling process, successive populations are subjected to the activity of genetic operators and undergo selection procedures, the basis for selection is the evaluation function of the genetic algorithm. The schema can be (...) applied to automate the modeling of the mind/brain by means of artificial neural networks: the structure of each network is modified by genetic operators, modified networks undergo a learning cycle, and successive populations of networks are verified during the selection procedure. The whole process can be automated only partially, because it is the researcher who defines the evaluation function of the genetic algorithm. (shrink)

Where feminist critiques of bioscience have uncovered a whole set of operations that range round the Foucauldian notions of biopower and normativity, and have explored genetic discourse in particular to question the stability of self-identity, feminist bioethics has lagged behind. Despite an engagement with the technologies of postmodernity, including those associated with genetic research (and especially in its relation to reproduction), there has been, with relatively few exceptions, a reluctance to explore the implications of postmodernist theory. The difficulty (...) is that bioscience itself is now throwing up a problematic that destabilizes the central agent of ethical theory - the modernist sovereign subject. Using the field of genetics and the mapping of the human genome as a focal point, this paper suggests that bioethics should move on from conventional analytic strategies and, like feminist science studies, embrace uncertainty and complexity. The task is to fashion a new form of ethical response grounded in the notions of embodied connection and fluidity. (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)

Despite its focus on consent the new Human Tissue Act 2004 allows for testing without consent where a relative could benefitIn recognition of the fact that genetic test results in people can have implications for close relatives, the new Human Tissue Act 2004 allows for a direction to access a person’s tissue so that testing can be carried out for the benefit of a relative, without the consent of that person. Clinical practice governed by common law and statute, before (...) this act, acknowledged that the disclosure, without consent, of the results of a genetic test, is ethically permissible in extreme situations for the benefit of a relative. New testing for the benefit of a relative without donor consent challenges the principle that informed or adequate consent should be obtained before a genetic test with considerable predictive powers is carried out. The debate surrounding the analogous situation of HIV testing concluded that in very rare cases, disclosure of an HIV result without consent may be justified, but testing without consent is a professional misconduct. This part of the legislation is controversial and deserves further debate. The Human Tissue Authority should take measures to limit the potential harm that can be caused by this provision.IntroductionAfter much debate, the new Human Tissue Act 2004 was passed by parliament in November 2004. Implementation of this act may be staggered, but it will be fully operational in May 2006. This act has several provisions that have implications in clinical practice for the use of stored tissue or samples containing cells. These provisions allow the Human Tissue Authority to permit access to human tissue for the purpose of obtaining scientific or medical information about a person for the benefit of another family member, without the consent of the donor . …. (shrink)

This article sets out to show that Wittgenstein and Freud have exerted a considerable - though narrow - influence on Bourdieu’s sociology. But their influence also pervades the theoretical development of two other currents that have emerged in French sociology in the last few years, and that were developed by L. Boltanski and L. Thévenot on the one hand, and B. Lahire on the other. Although they do not make it explicit, the advocates of these two currents have nevertheless been (...) influenced by Wittgenstein and Freud. Thus Boltanski has drawn on Wittgenstein to develop a sociology which gives primacy to the social actor’s interpretation of his or her situation through lay theorizing. Lahire’s work clearly pays a debt to Freud with his psychological sociology. It would therefore be interesting, in the first instance, to tease out how Wittgenstein and Freud, respectively, have influenced these two systems to demonstrate that they can indeed be used to generate new sociological currents, other than Bourdieu’s own. This would then allow us to explore how they could be used to fill any gaps in Bourdieu’s work, thus giving the latter renewed relevance and staunching its stagnating tendencies. Ultimately, this analysis aims to show how Wittgenstein’s and Freud’s theoretical influences can lead the way towards a theoretical synthesis between Bourdieu’s critical sociology, Boltanski’s social actor theory and Lahire’s psychological sociology. Currently, these three currents operate independently of each other, without any kind of dialogue. And yet, far from being incompatible, these sociologies offer opportunities for exploring how they might complement and mutually enrich each other. (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)

Genetic determinism labels the morally problematical claim that some socially significant traits, traits we care about, such as sexual orientation, gender roles, violence, alcoholism, mental illness, intelligence, are largely the results of the operation of genes and not much alterable by environment, learning or other human intervention. Genetic determinism does not require that genes literally fix these socially significant traits, but rather that they constrain them within narrow channels beyond human intervention. In this essay we analyze (...) class='Hi'>genetic determinism in light of what is now known about the inborn error of metabolism phenylketonuria , which has for so long been the poster child ‘simple’ argument in favor of some form of genetic determinism. We demonstrate that this case proves the exact opposite of what it has been proposed to support and provides a strong refutation of genetic determinism in all its guises. (shrink)

This chapter offers a review of standard views about the requirements for natural selection to shape evolution and for the sorts of ‘units’ on which selection might operate. It then summarizes traditional arguments for genic selectionism, i.e., the view that selection operates primarily on genes (e.g., those of G. C. Williams, Richard Dawkins, and David Hull) and traditional counterarguments (e.g., those of William Wimsatt, Richard Lewontin, and Elliott Sober, and a diffuse group based on life history strategies). It then offers (...) a series of responses to the arguments, based on more contemporary considerations from molecular genetics, offered by Carmen Sapienza. A key issue raised by Sapienza concerns the degree to which a small number of genes might be able to control much of the variation relevant to selection operating on such selectively critical organs as hearts. The response to these arguments suggests that selection acts on many levels at once and that sporadic selection, acting with strong effects, can act successively on different key traits (and genes) while maintaining a balance among many potentially conflicting demands faced by organisms within an evolving lineage. (shrink)

This chapter contains sections titled: Introduction Natural Selection Operates within Genomes without Regard for Phenotypic Effect Selective Forces, Heritable Variation, and the Definition of Function Natural Selection Can, and Does, Act on the Products of Individual Genes Natural Selection Can Act Directly on Genes Themselves What Are the Limitations on the Unit of Selection Being “the Gene”? The “Complexity” Argument: Do Complex Phenotypes Require Complex Explanations? Do “Epigenes/Epialleles” Provide a “Non‐genetic” Source of Heritable Variation Upon Which Natural Selection May (...) Act? Summary Points: The Usual Unit of Selection Is the Gene Postscript: Counterpoint Note References. (shrink)

Background The use of tissue collected at a forensic post-mortem for forensic genetics research purposes remains of ethical concern as the process involves obtaining informed consent from grieving family members. Two forensic genetics research studies using tissue collected from a forensic post-mortem were recently initiated at our institution and were the first of their kind to be conducted in Cape Town, South Africa. Main body This article discusses some of the ethical challenges that were encountered in these research projects. Among (...) these challenges was the adaptation of research workflows to fit in with an exceptionally busy service delivery that is operating with limited resources. Whilst seeking guidance from the literature regarding research on deceased populations, it was noted that next of kin of decedents are not formally recognised as a vulnerable group in the existing ethical and legal frameworks in South Africa. The authors recommend that research in the forensic mortuary setting is approached using guidance for vulnerable groups, and the benefit to risk standard needs to be strongly justified. Lastly, when planning forensic genetics research, consideration must be given to the potential of uncovering incidental findings, funding to validate these findings and the feedback of results to family members; the latter of which is recommended to occur through a genetic counsellor. Conclusion It is hoped that these experiences will contribute towards a formal framework for conducting forensic genetic research in medico-legal mortuaries in South Africa. (shrink)

Commercial genetic testing offered over the internet, known as direct-to-consumer genetic testing (DTC GT), currently is under ethical attack. A common critique aims at the limited validation of the tests as well as the risk of psycho-social stress or adaption of incorrect behavior by users triggered by misleading health information. Here, we examine in detail the specific role of advertising communication of DTC GT companies from a medical ethical perspective. Our argumentative analysis departs from the starting point that (...) DTC GT operates at the intersection of two different contexts: medicine on the one hand and the market on the other. Both fields differ strongly with regard to their standards of communication practices and the underlying normative assumptions regarding autonomy and responsibility. Following a short review of the ethical contexts of medical and commercial communication, we provide case examples for persuasive messages of DTC GT websites and briefly analyze their design with a multi-modal approach to illustrate some of their problematic implications. We observe three main aspects in DTC GT advertising communication: (1) the use of material suggesting medical professional legitimacy as a trust-establishing tool, (2) the suggestion of empowerment as a benefit of using DTC GT services and (3) the narrative of responsibility as a persuasive appeal to a moral self-conception. While strengthening and respecting the autonomy of a patient is the focus in medical communication, specifically genetic counselling, persuasive communication is the normal mode in marketing of consumer goods, presuming an autonomous, rational, independent consumer. This creates tension in the context of DTC GT regarding the expectation and normative assessment of communication strategies. Our analysis can even the ground for a better understanding of ethical problems associated with intersections of medical and commercial communication and point to perspectives of analysis of DTC GT advertising. (shrink)

Genetic testing has become a vehicle through which basic constitutional relationships between citizens and the state are revisited, reaffirmed, or rearticulated. The interplay between the is of genetic knowledge and the ought of government unfolds in the context of diverse imaginaries of the forms of human well-being, freedom, and flourishing that states have a duty to support. This article examines how the United Kingdom, Germany, and the United States governed testing for Alzheimer’s disease, and how they diverged in (...) defining potential harms, benefits, and objects of regulation. Comparison before and after the arrival of direct-to-consumer genetic tests reveals differences in national understandings of what it means to protect life and citizenship: in the United Kingdom, ensuring physical wellness through clinical utility; in the United States, protecting both citizens’ physical well-being and freedom to choose through a framework of consumer protection; and in Germany, emphasizing individual flourishing and an unburdened sense of human development that is expressed in genetic testing law and policy as a commitment to the stewardship of personhood. Operating with their own visions of what it means to protect life and citizenship, these three states arrived at settlements that coproduced substantially different bioconstitutional regimes around Alzheimer’s testing. (shrink)

The ease with which genotyping technologies generate tremendous amounts of data on research participants has been well chronicled, a feat that continues to become both faster and cheaper to perform. In parallel to these advances come additional ethical considerations and debates, one of which centers on providing individual research results and incidental findings back to research participants taking part in genetic research efforts. In 2006 the Industry Pharmacogenomics Working Group offered some ‘Points-to-Consider’ on this topic within the context of (...) the drug development process from those who are affiliated to pharmaceutical companies. Today many of these points remain applicable to the discussion but will be expanded upon in this updated viewpoint from the I-PWG. The exploratory nature of pharmacogenomic work in the pharmaceutical industry is discussed to provide context for why these results typically are not best suited for return. Operational challenges unique to this industry which cause barriers to returning this information are also explained. (shrink)

As in other areas of medical practice, relatives accompany patients to genetic consultations. However, unlike in other areas, the consultations may be relevant to the relatives’ health because they may be at risk of developing the same genetic condition as the patient. The presence of relatives in genetic consultation may affect the decision‐making process and it raises questions about the perception of patient autonomy and the way it is practiced in genetics. However, these issues have not been (...) examined in previous empirical studies. This article aims to fill this gap by reporting findings from a qualitative study with clinicians working in the area of inherited breast cancer. The findings indicate that family presence has an impact on the patient's decisions to undergo genetic testing and preventative operations when she is diagnosed as a carrier. The findings further indicate that, unlike in other areas of medical practice, blood relatives who are present in consultations are perceived by clinicians as patients or potential patients, and this in turn increases their involvement in discussions in the consultation room. Finally, the findings indicate that in genetics, a relational approach to autonomy is applied. Decisions are made in a social context, where the relatives’ views are heard and taken into account. The findings suggest that the conventional bioethical approach to autonomy, which perceives the decision‐making unit as comprising a clinician and an individual patient, is challenged in genetics. The findings thus suggest that bioethicists, lawyers and policy‐makers should consider whether this individualistic approach is still valid and applicable. (shrink)

There has been increasing attention given to the way in which racial genetic clusters are constructed within population genetics. In particular, some scholars have argued that the conception of “whiteness” presupposed is such analyses is inherently problematic. In light of these ongoing discussions, this article aims to further clarify and develop this implicit relationship between whiteness, purity and contemporary genetics by offering a Foucauldian critique of the discourse of race within these genetic admixture studies. The goals of this (...) article, then, are twofold: first, to unearth some of the presuppositions operative in this genetics discourse that make possible a biological conception of race; and second, to examine some of the social and historical origins of those presuppositions. To this end, this article provides a brief genealogy of racial purity beginning with its formal legal codification in the one-drop rule. (shrink)

The use of tissue collected at a forensic post-mortem for forensic genetics research purposes remains of ethical concern as the process involves obtaining informed consent from grieving family members. Two forensic genetics research studies using tissue collected from a forensic post-mortem were recently initiated at our institution and were the first of their kind to be conducted in Cape Town, South Africa. This article discusses some of the ethical challenges that were encountered in these research projects. Among these challenges was (...) the adaptation of research workflows to fit in with an exceptionally busy service delivery that is operating with limited resources. Whilst seeking guidance from the literature regarding research on deceased populations, it was noted that next of kin of decedents are not formally recognised as a vulnerable group in the existing ethical and legal frameworks in South Africa. The authors recommend that research in the forensic mortuary setting is approached using guidance for vulnerable groups, and the benefit to risk standard needs to be strongly justified. Lastly, when planning forensic genetics research, consideration must be given to the potential of uncovering incidental findings, funding to validate these findings and the feedback of results to family members; the latter of which is recommended to occur through a genetic counsellor. It is hoped that these experiences will contribute towards a formal framework for conducting forensic genetic research in medico-legal mortuaries in South Africa. (shrink)

ABSTRACT When misattributed paternity is discovered in the course of genetic testing, a genetic counselor is presented with a dilemma concerning whether to reveal this information to the clients. She is committed to treating the clients equally and enabling informed decision making, but disclosing the information may carry consequences for the woman that the counselor cannot judge in advance. A frequent suggestion aimed at avoiding this problem is to include the risk of discovering nonpaternity in the informed consent (...) process for counseling. In this paper I argue that such a move does not resolve the problem, because the conflict hinges on the interpretation of equality on which the counselor operates. Given the principles of genetic counseling, neither construal of equality yields a satisfactory solution to the conflict. In fact, I conclude that including nonpaternity in informed consent is not endorsed by either view, and we are still left with the question of what to do should nonpaternity be discovered. I suggest a compromise position concerning disclosure, involving revealing relevant genetic information but withholding nonpaternity when possible. (shrink)

Purpose: Reflecting on the propensity of our culture to think in local linear causality such as “genetic determination” by examining systems and their operation. Findings: The existence of a system is operational, and a system exists as such only as long as the operational conditions that constitute it prevail. As the observer distinguishes a system, he or she specifies with his or her operation of distinction the conditions that constitute the system. Since the adaptation between living systems (...) and medium is invariant, all that happens in their history must happen as a flow of structural congruent changes conserving their organization and adaptation. Therefore, the ontogenic phenotype is not genetically determined but arises in the process of epigenesis i.e., along a path of interactions starting from the initial structure of both system and medium, along the conservation of its living. Implications: Natural selection should not be considered as a directing pressure causing the differential survival of living systems but as its result. (shrink)

The travelling salesman problem (TSP) belongs to the class of NP-hard problems, in which an optimal solution to the problem cannot be obtained within a reasonable computational time for large-sized problems. To address TSP, we propose a hybrid algorithm, called GA-TCTIA-LBSA, in which a genetic algorithm (GA), tour construction and tour improvement algorithms (TCTIAs) and a list-based simulated annealing (LBSA) algorithm are used. The TCTIAs are introduced to generate a first population, and after that, a search is continued with (...) the GA. The problem of premature convergence of the GA to local optimum is tackled by a method called social disaster technique. Afterwards, the LBSA is applied to generate a new population based on one of two proposed operators called packing and judgement day. The proposed algorithm is implemented in the MATLAB environment, and its two variants, called GA-TCTIA-LBSA packing and GA-TCTIA-LBSA judgement day, are tested on symmetric and asymmetric instances from TSPLIB. The overall results demonstrate that the proposed GA-TCTIA-LBSAs offer promising results, particularly for small-sized instances. (shrink)

What are the implications of microchimerism in sociocultural and ethico-legal contexts, particularly as they relate to the destabilization of genetic origins? Conventional biomedicine and related law have been reluctant to acknowledge microchimerism—the existence of unassimilated traces of genetic material that result in some cells in the body coding differently from the dominant DNA—despite it becoming increasingly evident that microchimerism is ubiquitous in the human population. One exception is maternal–fetal microchimerism which has long been recognized, albeit with little consideration (...) of the nonmedical implications. Most immediate issues concern the ongoing biomedical debate around whether microchimerism is beneficial in terms of enhancing the body’s range of immunological responses, harmful in provoking autoimmune diseases, or simply neutral with respect to subsequent health. That controversy remains unresolved, but whichever way it develops, I want to extend consideration by insisting that changing biological concerns cannot be separated from sociocultural and ethico-legal effects. Once the diversity of DNA coding in a singular body has been established, relations of kinship, the identification of legal parenthood, and the operation of surrogacy laws are of direct interest. The overriding problematic asks whether our ethical and legal apparatus is able to address such newly emerging questions. (shrink)

The paper discusses the problem of assignment production resources in executing a production order on the example of the car rims manufacturing process. The more resources are involved in implementing the manufacturing process and the more they can be used interchangeably, the more complex and problematic the scheduling process becomes. Special attention is paid to the effective scheduling and assignment of rim machining operations to production stations in the considered manufacturing process. In this case, the use of traditional scheduling methods (...) based on simple calculations, or the know-how of process engineers often turns out to be insufficient to achieve the intended results. Due to the scale of the problems faced in practice, the methods based on approximate approaches (Genetic and Tabu Search) were used to solve them. In this perspective, the problem under consideration involves the extension of the classic assignment problem with the possibility of taking into account: the times of operations, potential changeovers and the capacity of production resources. (shrink)

Some have recently argued that parents are morally obligated, under certain circumstances, to use pre-natal genetic intervention as a means of enhancement. Despite aiming to benefit the child, such intervention may produce serious and irreparable harm. In these cases, parents seem to have an obligation not to intervene, as such efforts make the child worse off. Julian Savulesu has argued that while harm raises doubts about the acceptability of genetic enhancement, genetic selection remains an obligation. This claim, (...) however, rests on an indefensible privileging of personal over impersonal harm. I propose instead that we reframe the debate as stemming from fundamentally different views about parental obligation. The objection from harm rests on an objectivist conception, according to which obligation is determined by all relevant facts, including unpredictable harm. Proponents of genetic enhancement, however, operate within subjectivist assumptions about obligation, according to which moral requirements are determined by reasons that are epistemically accessible to the relevant agents. I will argue here that because subjectivism offers a more reasonable conception of parental obligation, such unforeseeable harm does not remove a parent’s obligation to enhance. (shrink)

American Academy of Pediatrics (AAP) and American College of Medical Genetics (ACMG) recently provided two recommendations about predictive genetic testing of children. The Clinical Sequencing Exploratory Research Consortium's Pediatrics Working Group compared these recommendations, focusing on operational and ethical issues specific to decision making for children. Content analysis of the statements addresses two issues: (1) how these recommendations characterize and analyze locus of decision making, as well as the risks and benefits of testing, and (2) whether the guidelines conflict (...) or come to different but compatible conclusions because they consider different testing scenarios. These statements differ in ethically significant ways. AAP/ACMG analyzes risks and benefits using best interests of the child and recommends that, absent ameliorative interventions available during childhood, clinicians should generally decline to order testing. Parents authorize focused tests. ACMG analyzes risks and benefits using the interests of the child and other family members and recommends that sequencing results be examined for additional variants that can lead to ameliorative interventions, regardless of age, which laboratories should report to clinicians who should contextualize the results. Parents must accept additional analysis. The ethical arguments in these statements appear to be in tension with each other. (shrink)

While there is abundant research on innovations, we know little about why and when the commercialization of highly contested innovations, such as genetically modified (GM) crops, is approved by governments. In this paper, we argue that governments' decision to approve the commercialization of GM crops is influenced by heuristics based on the decisions of other governments with which they have greater trade, the gap between country performance and aspiration, and governments' prior decisions on GM crops field trials. We further propose (...) that the effect of these heuristics weakens when the government operates in countries with higher governance quality. Using data on approval of GM crop commercialization between 1991 and 2016, we found support for these arguments and suggest the joint effects of heuristics based on the decisions of trade partners and governance quality on governments' approval of GM crop commercialization. (shrink)

We discuss the role of linguistic metaphors as a cognitive frame for the understanding of genetic information processing. The essential similarity between language and genetic information processing has been recognized since the very beginning, and many prominent scholars have noted the possibility of considering genes and genomes as texts or languages. Most of the core terms in molecular biology are based on linguistic metaphors. The processing of genetic information is understood as some operations on text – writing, (...) reading and editing and their specification (encoding/decoding, proofreading, transcription, translation, reading frame). The concept of gene reading can be traced from the archaic idea of the equation of Life and Nature with the Book. Thus, the genetics itself can be metaphorically represented as some operations on text (deciphering, understanding, codebreaking, transcribing, editing, etc.), which are performed by scientists. At the same time linguistic metaphors portrayed gene entities also as having the ability of reading. In the case of such “bio-reading” some essential features similar to the processes of human reading can be revealed: this is an ability to identify the biochemical sequences based on their function in an abstract system and distinguish between type and its contextual tokens of the same type. Metaphors seem to be an effective instrument for representation, as they make possible a two-dimensional description: biochemical by its experimental empirical results and textual based on the cognitive models of comprehension. In addition to their heuristic value, linguistic metaphors are based on the essential characteristics of genetic information derived from its dual nature: biochemical by its substance, textual (or quasi-textual) by its formal organization. It can be concluded that linguistic metaphors denoting biochemical objects and processes seem to be a method of description and explanation of these heterogeneous properties. (shrink)

We discuss the role of linguistic metaphors as a cognitive frame for the understanding of genetic information processing. The essential similarity between language and genetic information processing has been recognized since the very beginning, and many prominent scholars have noted the possibility of considering genes and genomes as texts or languages. Most of the core terms in molecular biology are based on linguistic metaphors. The processing of genetic information is understood as some operations on text – writing, (...) reading and editing and their specification (encoding/decoding, proofreading, transcription, translation, reading frame). The concept of gene reading can be traced from the archaic idea of the equation of Life and Nature with the Book. Thus, the genetics itself can be metaphorically represented as some operations on text (deciphering, understanding, codebreaking, transcribing, editing, etc.), which are performed by scientists. At the same time linguistic metaphors portrayed gene entities also as having the ability of reading. In the case of such “bio-reading” some essential features similar to the processes of human reading can be revealed: this is an ability to identify the biochemical sequences based on their function in an abstract system and distinguish between type and its contextual tokens of the same type. Metaphors seem to be an effective instrument for representation, as they make possible a two-dimensional description: biochemical by its experimental empirical results and textual according to the cognitive models of comprehension. In addition to their heuristic value, linguistic metaphors are based on the essential characteristics of genetic information derived from its dual nature: biochemical by its substance, textual (or quasitextual) by its formal organization. It can be concluded that linguistic metaphors denoting biochemical objects and processes seem to be a method of description and explanation of these heterogeneous properties. (shrink)

Genetic Programming (GP) is a technique which permits automatic search for complex solutions using a computer. It goes beyond previous techniques in that it discovers the structure of those solutions. Previously, if one were trying to find an equation to fit a set of data, one would have had to provide the form of the equation (for example a fourth degree polynomial) and the computer could then find the appropriate parameters. By contrast, GP can experiment with a whole range (...) of different functional forms , building equations from a menu of functions, symbols and arithmetic operations. Thus GP can be seen as an essentially creative technique. It is good at finding novel solutions where not much is known about the form of the solution.. (shrink)

We discuss the role of linguistic metaphors as a cognitive frame for the understanding of genetic information processing. The essential similarity between language and genetic information processing has been recognized since the very beginning, and many prominent scholars have noted the possibility of considering genes and genomes as texts or languages. Most of the core terms in molecular biology are based on linguistic metaphors. The processing of genetic information is understood as some operations on text – writing, (...) reading and editing and their specification (encoding/decoding, proofreading, transcription, translation, reading frame). The concept of gene reading can be traced from the archaic idea of the equation of Life and Nature with the Book. Thus, the genetics itself can be metaphorically represented as some operations on text (deciphering, understanding, code-breaking, transcribing, editing, etc.), which are performed by scientists. At the same time linguistic metaphors portrayed gene entities also as having the ability of reading. In the case of such “bio-reading” some essential features similar to the processes of human reading can be revealed: this is an ability to identify the biochemical sequences based on their function in an abstract system and distinguish between type and its contextual tokens of the same type. Metaphors seem to be an effective instrument for representation, as they make possible a two-dimensional description: biochemical by its experimental empirical results and textual based on the cognitive models of comprehension. In addition to their heuristic value, linguistic metaphors are based on the essential characteristics of genetic information derived from its dual nature: biochemical by its substance, textual (or quasi-textual) by its formal organization. It can be concluded that linguistic metaphors denoting biochemical objects and processes seem to be a method of description and explanation of these heterogeneous properties. (shrink)

We discuss the role of linguistic metaphors as a cognitive frame for the understanding of genetic information processing. The essential similarity between language and genetic information processing has been recognized since the very beginning, and many prominent scholars have noted the possibility of considering genes and genomes as texts or languages. Most of the core terms in molecular biology are based on linguistic metaphors. The processing of genetic information is understood as some operations on text – writing, (...) reading and editing and their specification (encoding/decoding, proofreading, transcription, translation, reading frame). The concept of gene reading can be traced from the archaic idea of the equation of Life and Nature with the Book. Thus, the genetics itself can be metaphorically represented as some operations on text (deciphering, understanding, code-breaking, transcribing, editing, etc.), which are performed by scientists. At the same time linguistic metaphors portrayed gene entities also as having the ability of reading. In the case of such “bio-reading” some essential features similar to the processes of human reading can be revealed: this is an ability to identify the biochemical sequences based on their function in an abstract system and distinguish between type and its contextual tokens of the same type. Metaphors seem to be an effective instrument for representation, as they make possible a two-dimensional description: biochemical by its experimental empirical results and textual based on the cognitive models of comprehension. In addition to their heuristic value, linguistic metaphors are based on the essential characteristics of genetic information derived from its dual nature: biochemical by its substance, textual (or quasi-textual) by its formal organization. It can be concluded that linguistic metaphors denoting biochemical objects and processes seem to be a method of description and explanation of these heterogeneous properties. (shrink)

Rationality and consciousness are strictly correlated. If one evolves, the other necessarily changes accordingly. Of all the possible modes of inquiry, this paper adopts a process genetic perspective informed by the historical speculations of Julian Jaynes. First, we co-define consciousness and rationality. Second, we take up again Jaynes’s insight: (proto-)consciousness has a history, or consciousness has a pre-history. Third, we underline that the sharpening of operational rationality has involved a palpable impoverishment of consciousness over the ages and nefarious consequences (...) for our future. (shrink)

The article presents a new theory for the subdivision of human thought into four domains that are experientially and operationally discrete and are elaborated by activity in four anatomically definable areas of the dorsolateral prefrontal cortex. I propose that these areas constitute the Social, Material, Temporal anddivisions of the mind and that their sequential maturation accounts for the cognitive stages of childhood. The Social Mind ) is responsible for our emotional intelligence. The Temporal Mind enables us to contemplate the future (...) in terms of a sequence of manageable sub-goals. The Material Mind is responsible for our practicality. The Abstract Mind enables us to comprehend possibility and generate hypotheses. Because recent neurogenetical studies show the powerful influence of genes in controlling the size of the areas of Brodmann, I suggest further that variation in the size of these areas provides an explanation for the genetic basis of personality and many of the so-called cultural differences apparent between long-isolated human populations. (shrink)

Sewall Wright first encountered the complex systems characteristic of gene combinations while a graduate student at Harvard's Bussey Institute from 1912 to 1915. In Mendelian breeding experiments, Wright observed a hierarchical dependence of the organism's phenotype on dynamic networks of genetic interaction and organization. An animal's physical traits, and thus its autonomy from surrounding environmental constraints, depended greatly on how genes behaved in certain combinations. Wright recognized that while genes are the material determinants of the animal phenotype, operating with (...) great regularity, the special nature of genetic systems contributes to the animal phenotype a degree of spontaneity and novelty, creating unpredictable trait variations by virtue of gene interactions. As a result of his experimentation, as well as his keen interest in the philosophical literature of his day, Wright was inspired to see genetic systems as conscious, living organisms in their own right. Moreover, he decided that since genetic systems maintain ordered stability and cause unpredictable novelty in their organic wholes, it would be necessary for biologists to integrate techniques for studying causally ordered phenomena and chance phenomena. From 1914 to 1921 Wright developed his "method of path coefficient", a new procedure drawing from both laboratory experimentation and statistical correlation in order to analyze the relative influence of specific genetic interactions on phenotype variation. In this paper I aim to show how Wright's philosophy for understanding complex genetic systems logically motivated his 1914-1921 design of path analysis. (shrink)

A recent Organisation for Economic Co-Operation and Development survey demonstrated that an internationalization of genetic laboratory services currently emerged from the rarity of certain genetic abnormalities and from the small of laboratories performing specialized testing. When DNA samples cross national boundaries for genetic testing services to be performed in another country, the heterogeneity of national legal frameworks raises important questions regarding quality of genetic services available internationally.Some aspects of the genetic laboratories’ services are abundantly (...) discussed by the literature, among which most prominent are quality control standards and patients rights. Firstly, a 2003 study identified key distinctions between the different legal frameworks for genetic services. While some countries impose exhaustive regulatory requirements, others favor guidelines for good practices. Moreover, proficiency assessment, clinical validity, retention of laboratory records and test reports are not dealt with uniformly. (shrink)

Since the 1930’s, several attempts have been made to develop a general theory of technical systems or objects and their evolution: in France, Jacques Lafitte, André Leroi-Gourhan, Bertrand Gille, Yves Deforge, and Gilbert Simondon are the main representatives of this trend. In this paper, we focus on the work of Simondon: his analysis of technical progress is based on the hypothesis that technology has its own laws and that customer demand has no paramount influence upon the evolution of technical systems. (...) We first describe the process Simondon called “concretization” and compare it with the process of “idealization” as defined by Genrich Altshuller. We then explain how the progress of technical lineages can be characterized as following a specific rhythm of relaxation and how it thus obeys a “law” of evolution in the industrial context. Simondon’s theoretical approach, although similar to some aspects of methodologies of conception, emphasized a more accurate understanding of technical progress over possible operational applications. Simondon never intended to optimize the engineer’s tasks from an economic point of view and, in fact, his conception of technical progress can be considered as independent from the capitalistic trend of innovation. However, the philosophy of Simondon provides a better understanding of what is at stake theoretically in the modeling of laws of technical evolution. (shrink)

Since the 1930’s, several attempts have been made to develop a general theory of technical systems or objects and their evolution: in France, Jacques Lafitte, André Leroi-Gourhan, Bertrand Gille, Yves Deforge, and Gilbert Simondon are the main representatives of this trend. In this paper, we focus on the work of Simondon: his analysis of technical progress is based on the hypothesis that technology has its own laws and that customer demand has no paramount influence upon the evolution of technical systems. (...) We first describe the process Simondon called “concretization” and compare it with the process of “idealization” as defined by Genrich Altshuller. We then explain how the progress of technical lineages can be characterized as following a specific rhythm of relaxation and how it thus obeys a “law” of evolution in the industrial context. Simondon’s theoretical approach, although similar to some aspects of methodologies of conception, emphasized a more accurate understanding of technical progress over possible operational applications. Simondon never intended to optimize the engineer’s tasks from an economic point of view and, in fact, his conception of technical progress can be considered as independent from the capitalistic trend of innovation. However, the philosophy of Simondon provides a better understanding of what is at stake theoretically in the modeling of laws of technical evolution. (shrink)