Constructivism,sociology and the new genetics 1

In this paper it is argued that the social sciences, especially sociology, cannot afford to ignore the challenge that is coming from the new genetics. This will involve rethinking some of the epistemological assumptions of modernist social science, which has always assumed the separation of nature and society. The argument made in this article is that a qualified version of constructivism points to a possible opening within the sciences for a reorientation for sociology and in a way that the new genetics can be addressed in a serious way.     

Pharmacogenetics: Implications for drug development,patients and society

Clinical diagnosis and prescribing is a highly sophisticated art, requiring many years of training. Despite this, the response of individual patients to medicines (where efficacy and safety have been proven in large clinical studies) can still be somewhat variable. Knowledge of the likely response of an individual patient to a medicine will enable physicians to select the most effective and well-tolerated treatment for that patient. Pharmacogenetics is the use of genetic science and technology to provide new insights on the likely response to a particular medicine. (This contrasts with the more conventional use of genetics to elicit information about diseases.) Pharmacogenetic medicine response profiles could take the form of either gene-specific profiles, which will determine the gene variants that affect the mode of action and the metabolism of the medicine, or abbreviated single nucleotide polymorphism profiles, which are correlated with medicine-related phenotypes. In general, pharmacogenetic medicine response profiles will be unlikely to provide additional information about the patient's disease or predict any other diseases. The ethical, legal and social issues associated with medicine response profiles are clearly of a quite different magnitude from those associated with the gene-specific tests for disease.     

Genetic governance: The risks,oversight and regulation of genetic databases in the UK

Increasing scientific and commercial interest is being paid to the creation of large population-based genetic databases to study the relationship between genes and disease. This paper will use ideas from the sociology of technology to look at the network of actors involved in the production, use and commercial exploitation of human genetic data, the social and ethical issues posed by genetic databases and the development of new governance arrangements in this domain. It will be argued that we are witnessing the creation of a new type of research system in the field of human genetics, which also forms the centre of an emerging market for personal and population-based genetic information. Some proposals for improving the governance of human genetic data in the UK will be offered in conclusion.     

Challenges Faced by Behavioral Genetic Studies: Researchers Perspective from the MENA Region

BackgroundBehavioral genetic studies are important for the understanding of the contribution of genetic variations to human behavior. However, such studies might be associated with some ethical concerns.MethodsIn the current study, ethical challenges related to studies of genetic variations contributing to human behavior were examined among researchers. To achieve the study purpose, the Middle East and North Africa (MENA) region researchers were taken as an example, where the after- mentioned ethical challenges were discussed among a group of researchers, who were the participants of an online forum. Discussions and responses of the participants were monitored and were later qualitatively analyzed.ResultsDiscussions revealed that several ethical challenges, including subjects’ recruitment, the difficulty of obtaining informed consents, and issues of privacy and confidentiality of obtained data as information leakage, in this case, will lead to social stigma and isolation of the participants and their immediate family members. Jordanian social and cultural norms, faith, and the tribal nature of the population were raised as a major challenge that might face conducting behavioral genetic studies in the Arab populations of the MENA. The lack of regulation related to the conduction of genetic studies, misunderstanding, and misuse of genetic information are other challenges. A full explanation of genetic research and the current and future possible benefits/risks of such research could be potential solutions.ConclusionIn conclusion, the MENA populations are tackled with major challenges in relation to conducting research studies in genetics/antisocial behavior field/s. Establishment of guidelines related to genetic studies, capacity building, increasing public awareness about the importance of genetic testing, and enhancing responsible conduct of research will facilitate the conduct of such sensitive studies in the future in the region.     

Whose DNA? Genetic surveillance,ownership of information and newborn screening

Abstract

The new genetics, emerging as a scientific revolution, is reinforcing the biological theories which accounts for differences between groups and individuals. Genetic screening of populations contributes to the defining of normality within the dominant medical paradigm. The Newborn Screening Test for inborn errors of metabolism (the Guthrie test) is performed on all Australian babies in the first week of life. The test cards, which have been stored in Australia since the 1970s, have, since the development of new genetic technologies, become a potential DNA databank. These and the private DNA databanks for newborns that may arise in the foreseeable future encompass several of the new questions of genetics: who should have access to the information? Can the information be used for reasons other than those for which it was collected? Who should decide what happens to the information?

The social shaping of genetics as a biotechnology shows some of the ways in which genetics can be used as a means of social control. Examination of the ownership of information about both individuals and populations reveals some of the values and interests involved.     

Genetic essentialism,mana , and the meaning of DNA

Concerns about the commercialization of genetics have spawned a debate over the symbolic logic and meaning of DNA. The assumption is that different meanings for DNA have social and ethical consequences. Genetic essentialism as an interpretive meaning for DNA is argued to encapsulate values of materialism and autonomy that make it compatible with capital accumulation. Whether or not genetic commerce actually requires genetic essentialism is an empirical question and this study proposes that it is not difficult to find non-essentialist genetics. Two paths of inquiry are adopted. First, the history and origins of the distinction between genotype and phenotype is revisited. This history of gene theory, in particular the effort to purge vitalism, is linked to DNA and the central dogma of molecular biology. Secondly, a rather specialized debate within anthropology about the meaning of mana is introduced. An analysis of definitions for genotype and phenotype reveals a structure commensurate with the metaphysics of mana. Parallels are established between how the meaning of mana has been essentialized and the current efforts to fix the symbolic logic of DNA.     

Genetic testing and primary care: a new ethic for a new setting

For several decades, clinical geneticists have espoused two key ethical principles, nondirectiveness and confidentiality. These principles made a great deal of sense in the highly personal and controversial setting of reproductive genetics. Now that clinical genetics has entered the primary care setting, clinicians are rethinking the strength of their commitment to these traditional norms and they are revamping their ethical priorities. Patients increasingly need advice about whether they should take genetic tests and whether and how they should respond to the test results. Patients also need to know about how this information will impact family members and whether other members of their family should be tested. Clinical geneticists may even consider breaking individual confidentiality in order to prevent harms to family members. Although clinical geneticists do not need to abandon nondirectiveness and confidentiality in this new setting, they may not strictly adhere to these principles in some circumstances in order to benefit patients and their families.     

Genetic testing and primary care: a new ethic for a new setting

For several decades, clinical geneticists have espoused two key ethical principles, nondirectiveness and confidentiality. These principles made a great deal of sense in the highly personal and controversial setting of reproductive genetics. Now that clinical genetics has entered the primary care setting, clinicians are rethinking the strength of their commitment to these traditional norms and they are revamping their ethical priorities. Patients increasingly need advice about whether they should take genetic tests and whether and how they should respond to the test results. Patients also need to know about how this information will impact family members and whether other members of their family should be tested. Clinical geneticists may even consider breaking individual confidentiality in order to prevent harms to family members. Although clinical geneticists do not need to abandon nondirectiveness and confidentiality in this new setting, they may not strictly adhere to these principles in some circumstances in order to benefit patients and their families.     

Exotic flagellates of coastal North Sea waters

Flagellate species have been shown to survive transocean passage by ballast water and the large dinoflagellateGymnodinium catenatum was introduced from Japanese to Tasmanian waters in this way.Gymnodinium mikimotoi—better known asGyrodinium aureolum—andFibrocapsa japonica as well asAlexandrium leeii are good candidates to have been introduced recently. Species which seem to have been introduced recently into the North Sea but apparently are transported from adjacent seas by currents into the region areGymnodinium chlorophorum andAlexandrium minutum. Species reported as introduced due to misidentifications areGymnodinium catenatum andLepidodinium viride. Under other names the speciesProrocentrum minimum, Prorocentrum redfieldii, andHeterosigma akashiwo have been known for a long time in the North Sea. The recent reports of threeChattonella species may be either due to introduction or they have been overlooked. The reasons why the introduction of flagellates into coastal North Sea waters is difficult to prove will be discussed.     

Combining Cultural Probes and Interviews with Caregivers to Co-Design a Social Mobile Robotic Solution

ObjectivesThe objective of our research is to study the social organization within institutions welcoming dependent older adults and the potential impact of introducing a social robot.Materials and methodsIn a co-design approach with professionals, the observation of behaviors, regulated by social rules and norms, will allow, in a way coherent with our empirical approach, to question the conditions necessary for the design of an acceptable human–robot interaction. The ethnographic observations, which were cancelled due to the Covid crisis, led us to use the “cultural probes” method combined with interviews, to understand the daily work of health professionals better.ResultsThe analysis of the collected data allows us to identify 5 recurrent themes – Time and personnel, the health situation,¹ Communication/Attention, Guiding, Activities – for which we have listed, in this article, the issues encountered, the questions raised and ideas of potential solutions with the use of a social robot.ConclusionThe Cultural Probes approach may seem time-consuming and requires a significant investment, but it has allowed us to maintain regular contact during the pandemic. In addition, the qualitative data collected proved to be a good discussion tool.     

Genes,agents and the institution of responsible action

The concern of this paper is with how the accounts of human beings and their behaviour now emerging from genetics, genomics and the new human biotechnology should be related to traditional accounts in which we identify ourselves as responsible agents, capable of choice, who normally act freely and voluntarily. The paper addresses these apparently competing accounts in terms of their functions and modes of use, and thereby arrives at a general solution to this current version of the ancient problem of free will and determinism. The causal scientific discourse of genetics and the everyday discourse of responsibility and choice do different things for us, it suggests, and should not be regarded as articulating conflicting theories. Whilst the former is oriented to the task of naturalistic explanation, the latter is predominantly, if not entirely, a medium of communication through which we affect each other and thereby mutually regulate our conduct. If this is indeed the case, then interesting implications follow concerning the proper relationship of the two kinds of account, which need no longer be regarded as incompatible with each other. And insights emerge into both the limitations and the profound importance of the contribution that genetics and genomics seem destined to make to the understanding of human behaviour.     

THE EVOLUTION OF LANDSCAPE GENETICS

The main objective of this special section is not to review the broad field of landscape genetics, but to provide a glimpse of how the developing landscape genetics perspective has the potential to change the way we study evolution. Evolutionary landscape genetics is the study of how migration and population structure affects evolutionary processes. As a field it dates back to Sewall Wright and the origin of theoretical population genetics, but empirical tests of adaptive processes of evolution in natural landscapes have been rare. Now, with recent developments in technology, methodology, and modeling tools, we are poised to trace adaptive genetic variation across space and through time. Not only will we see more empirical tests of classical theory, we can expect to see new phenomena emerging, as we reveal complex interactions among evolutionary processes as they unfold in natural landscapes.     

Application of Molecular Biology and Genetics in Endocrinology

ObjectiveTo review the growing impact of molecular biology and genetics on clinical endocrinology.MethodsMedical literature, databases, and Web sites describing genetics and genomic medicine with relevance for clinical endocrinology were reviewed.ResultsMany monogenic disorders can now be explained at the molecular level and the diagnosis can be established through mutational analysis. The ability to establish a molecular diagnosis is relevant for carrier detection and genetic counseling. In contrast to the significant advances in monogenic disorders, the current knowledge about the genetic components contributing to the pathogenesis of complex disorders is still relatively modest and is a major focus of current research efforts. Molecular biology already has an important impact on therapy in endocrine disorders. A broad spectrum of recombinant peptides and proteins are used in daily practice, eg, insulin and insulin analogues. Moreover, the increasingly detailed understanding of the molecular pathogenesis of cancer is leading to the development of novel and more specific inhibitors. While genetic testing has many advantages, it is important that physicians and patients are aware of potential limitations. They include, among others, technical limitations and allelic and nonallelic heterogeneity. These limitations need to be discussed in detail with patients and relatives, and it is often useful to involve a genetic counselor before obtaining informed consent by the individuals undergoing testing.ConclusionMolecular biology and genetics play an increasingly important role for the diagnosis and therapy of endocrine disorders. Challenges for the future include the elucidation of the genetic components contributing to complex disorders, eg, diabetes mellitus type 2, and the development of cheaper and comprehensive DNA sequencing technologies. Lastly, it is important that there is continuing attention directed towards the ethical, social, and legal aspects surrounding genetic medicine. (Endocr Pract, 2007;13: 534-541)     

Diagnostic use of Molecular Markers In the Evaluation of Thyroid Nodules

ObjectiveTo describe the molecular markers thus far evaluated for use in the care of patients with clinically relevant thyroid nodules.MethodsWe review the currently available molecular tests that have been applied to patients with thyroid nodules.ResultsIn the United States, approximately 450 000 diagnostic fine-needle aspirates will be performed on patients with thyroid nodules this year in an effort to identify thyroid cancer. Unfortunately, this test is imprecise and, at times, inaccurate. Because of this, novel diagnostic testing modalities have been pursued, the most promising of which involve molecular analysis of thyroid tissue. Immunohistochemical staining, analysis for mutations and gene rearrangements, and microarray analysis have all been investigated with regard to their performance characteristics in targeted patient populations.ConclusionsMolecular tests to evaluate thyroid nodules demonstrate variable performance characteristics. Further evaluation of available and emerging molecular tests will necessarily rely on prospective real-world test validation in the clinical setting. (Endocr Pract. 2012;18: 796-802)     

Bioethics for clinicians: 14. Ethics and genetics in medicine

Information about a patient''s inherited risk of disease has important ethical and legal implications in clinical practice. Because genetic information is by nature highly personal yet familial, issues of confidentiality arise. Counselling and informed consent before testing are important in view of the social and psychological risks that accompany testing, the complexity of information surrounding testing, and the fact that effective interventions are often not available. Follow-up counselling is also important to help patients integrate test results into their lives and the lives of their relatives. Genetic counselling should be provided by practitioners who have up-to-date knowledge of the genetics of and the tests available for specific diseases, are aware of the social and psychological risks associated with testing, and are able to provide appropriate clinical follow-up. Some physicians may elect to refer patients for genetic counselling and testing. However, it is inevitable that all physicians will be involved in long-term follow-up both by monitoring for disease and by supporting the integration of genetic information into patients'' lives.     

Ordinary ethics: lay people's deliberations on social sex selection

Abstract

This article summarises the results of a research project that used a scenario about sex selection of embryos for social reasons as a basis for discussion groups with lay people. The aim of the research was to examine the processes by which non-professionals make ethical evaluations in relation to a contested area in medical genetics. We note in particular the role played in the discussions by expressions of instinct; making distinctions; rational argument; reference to principles; use of personal experience; analogies and examples; slippery slope arguments and meta-reflections. The implications for developing processes of public consultation and debate are also considered.     

Cutting red tape to manage public health threats: An ethical dilemma of expediting antibiotic drug innovation

Antibiotic resistance, arising when bacteria develop defences against antibiotics, is creating a public health threat of massive proportions. This raises challenging questions for standard notions in bioethics when suitable policy is to be characterized and justified. We examine the particular proposal of expediting innovation of new antibiotics by cutting various forms of regulatory ‘red tape’ in the standard system for the clinical introduction of new drugs. We find strong principled reasons in favour of such a lowering of the ethical standards of research and the clinical introduction of new antibiotic formulas. However, this support is undermined by pragmatic challenges owing to expected responses from stakeholders, creating uncertainty about which policies could actually be effectively implemented. We describe an underlying dilemma on how to rationally justify compromises between ideal ethical justification and pragmatic risks that needs to be further addressed in this light. We suggest a solution to this dilemma related to proposals of expediting antibiotic drug innovation.     

Beyond the genome: Reconstituting the new genetics

The mapping and sequencing of the human genome has been the 'Holy Grail' of the new genetics, and its publication marks a turning point in the development of modern biotechnology. However, the question remains: what has been the impact of this discovery on how biotechnology develops in science, and in society at large? Using concepts developed in the social studies of science and technology, the paper begins by rehearsing the historical development of the Human Genome Project (HGP), and suggests that its translation into genomics has been achieved through a process of 'black-boxing' to ensure stabilization. It continues by exploring the extent to which the move to genomics is part of a paradigm shift in biotechnology resulting from the conceptual and organizational changes that have occurred following the completion of HGP. The discussion then focuses on whether genomics can be seen as part of the development of socially robust knowledge in late modernity. The paper suggests that there is strong evidence that a transformation is indeed taking place. It concludes by sketching a social scientific agenda for investigating the reconstitution of the new genetics in a post-genomic era using a 'situated' analytic approach based on an understanding of techno-scientific change as both emergent and contingent.