Popular and scientific accounts of the U.S. Human Genome Project often express concern about the implications of the project for the philosophic question of free will and responsibility. However, on its standard construal within philosophy, the question of free will versus determinism poses no special problems in relation to genetic research. The paper identifies a variant version of the free will question, free will versus internal constraint, that might well pose a threat to notions of individual autonomy and virtue (...) in connection with genetic research. Whether it does depends on the extent to which the genetic basis for behavior turns on behavioral incapacities. (shrink)
Recent and not so recent advances in our molecular understanding of the genome make the once prevalent view of the genome as a passive container of genetic information (i.e., genes) untenable, and emphasize the importance of the internal organization and re-organization dynamics of the genome for both development and evolution. While this conclusion is by now well accepted, the construction of a comprehensive conceptual framework for studying the genome as a dynamic system, capable of self-organization and (...) adaptive behavior is still underway. This work deals with the effect of such a conceptual shift on evolutionary thought. Specifically, I try to articulate the conceptual commitments and obligations of views that privilege explanatorily or causally the genome, its dynamics and mechanisms, over genes. I refer to this class of views as belonging to ‘the genome perspective’. (shrink)
In this paper we discuss the scientific value of the human genome project. To what extent is the data obtained by sequencing the entire human genome useful in the gene dicovery process? Responding to Alex Rosenberg' skepticism about the value of such data, we maintain that brute sequence data is much more useful than he suggests.
In this paper I claim that the goal of mapping and sequencing the human genome is not wholly new, but rather is an extension of an older project to map genes, a central aim of genetics since its birth. Thus, the discussion about the value of the HGP should not be posed in global terms of acceptance or rejection, but in terms of how it should be developed. The first section of this paper presents a brief history of the (...) project. The second section distinguishes among four kinds of issues relevant to an evaluation of the HGP: those economic and organizational issues related to the feasibility of the project; the ethical questions arising in the development of the project and the application of the data gathered; the empirical issues relevant to the scientific value of the project; and conceptual issues like reductionism and determinism relevant to understand the nature and scope of the project. In a third section, I analyze in detail whether the HGP and, more generally, molecular biology is reductionistic. (shrink)
While bioethics as a field has concerned itself with methodological issues since the early years, there has been no systematic examination of how ethics is incorporated into research on the Ethical, Legal and Social Implications (ELSI) of the Human Genome Project. Yet ELSI research may bear a particular burden of investigating and substantiating its methods given public funding, an explicitly cross-disciplinary approach, and the perceived significance of adequate responsiveness to advances in genomics. We undertook a qualitative content analysis of (...) a sample of ELSI publications appearing between 2003 and 2008 with the aim of better understanding the methods, aims, and approaches to ethics that ELSI researchers employ. We found that the aims of ethics within ELSI are largely prescriptive and address multiple groups. We also found that the bioethics methods used in the ELSI literature are both diverse between publications and multiple within publications, but are usually not themselves discussed or employed as suggested by bioethics method proponents. Ethics in ELSI is also sometimes undistinguished from related inquiries (such as social, legal, or political investigations). (shrink)
The Human Genome Project (HGP) represents a massive merging of science and technology in the name of all humanity. While the disease aspects of HGP-generated data have received the greatest publicity and are the strongest rationale for the project, it should be remembered that the HGP has, as its goal the sequencing of all 100,000 human genes and the accurate depiction of the ancestral and functional relationships among these genes. The HGP will thus be constructing the molecular taxonomic norm (...) for humanity. Currently the HGP genomic baseline is almost exclusively skewed toward North Atlantic European lineages through the extensive use of the Centre d’Études du Polymorphisme Humaine (CEPH) data set. More recently, the HGP has shifted to the use of volunteer donors since adequate informed consent had not been secured from the CEPH families. No evidence exists that either the CEPH families or the current volunteers are the most appropriate demographic or evolutionary lineages for the functional genomic studies that will guide production of new DNA based drugs, targeted therapeutics and gene-based diagnostics. The lack of scientific representativeness of the HGP is a serious impediment to its broad applicability. Yet this can be remedied, and five alternative sampling strategies are presented. In response to the current exclusionary design of the HGP, there is noteworthy caution and skepticism in the African American community concerning genetic studies. The Manifesto on Genomic Studies Among African Americans reflects both a desire to be systematically included in federally funded genomic studies and a desire to maintain some control over the interpretation and application of research results. Representative sampling in the HGP is seen as an international human rights issue with domestic ethical implications. (shrink)
Background: Recent changes to regulatory guidance in the US and Europe have complicated oversight of secondary research by rendering most uses of de-identified data exempt from human subjects oversight. To identify the implications of such guidelines for harms to participants and communities, this paper explores the secondary uses of one de-identified DNA sample collection with limited oversight: the Human Genome Diversity Project (HGDP)-Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset (CEPH) Human Genome Diversity Panel. Methods: Using a combination (...) of keyword and cited reference search, we identified English-language scientific articles published between 2002 and 2009 that reported analysis of HGDP Diversity Panel samples and/or data. We then reviewed each article to identify the specific research use to which the samples and/or data was applied. Secondary uses were categorized according to the type and kind of research supported by the collection. Results: A wide variety of secondary uses were identified from 148 peer-reviewed articles. While the vast majority of these uses were consistent with the original intent of the collection, a minority of published reports described research whose primary findings could be regarded as controversial, objectionable, or potentially stigmatizing in their interpretation. Conclusions: We conclude that potential risks to participants and communities cannot be wholly eliminated by anonymization of individual data and suggest that explicit review of proposed secondary uses, by a Data Access Committee or similar internal oversight body with suitable stakeholder representation, should be a required component of the trustworthy governance of any repository of data or specimens. (shrink)
Broad genome-wide testing is increasingly finding its way to the public through the online direct-to-consumer marketing of so-called personal genome tests. Personal genome tests estimate genetic susceptibilities to multiple diseases and other phenotypic traits simultaneously. Providers commonly make use of Terms of Service agreements rather than informed consent procedures. However, to protect consumers from the potential physical, psychological and social harms associated with personal genome testing and to promote autonomous decision-making with regard to the testing offer, (...) we argue that current practices of information provision are insufficient and that there is a place – and a need – for informed consent in personal genome testing, also when it is offered commercially. The increasing quantity, complexity and diversity of most testing offers, however, pose challenges for information provision and informed consent. Both specific and generic models for informed consent fail to meet its moral aims when applied to personal genome testing. Consumers should be enabled to know the limitations, risks and implications of personal genome testing and should be given control over the genetic information they do or do not wish to obtain. We present the outline of a new model for informed consent which can meet both the norm of providing sufficient information and the norm of providing understandable information. The model can be used for personal genome testing, but will also be applicable to other, future forms of broad genetic testing or screening in commercial and clinical settings. (shrink)
_Gender issues arise in relation to the human genome across a number of dimensions: the level of attention given to the nuclear genome as opposed to the mitochondrial; the level of basic scientific research; decision-making in the clinic related to both reproductive decision-making on the one hand, and diagnostic and predictive testing on the other; and wider societal implications. Feminist bioethics offers a useful perspective for addressing these issues._.
The goal of the Human Genome Diversity Project (HGDP) was to reconstruct the history of human evolution and the historical and geographical distribution of populations with the help of scientific research. Through this kind of research, the entire spectrum of genetic diversity to be found in the human species was to be explored with the hope of generating a better understanding of the history of humankind. An important part of this genome diversity research consists in taking blood and (...) tissue samples from indigenous populations. For various reasons, it has not been possible to execute this project in the planned scope and form to date. Nevertheless, genomic diversity research addresses complex issues which prove to be highly relevant from the perspective of research ethics, transcultural medical ethics, and cultural philosophy. In the article at hand, we discuss these ethical issues as illustrated by the HGDP. This investigation focuses on the confrontation of culturally diverse images of humans and their cosmologies within the framework of genome diversity research and the ethical questions it raises. We argue that in addition to complex questions pertaining to research ethics such as informed consent and autonomy of probands, genome diversity research also has a cultural–philosophical, meta-ethical, and phenomenological dimension which must be taken into account in ethical discourses. Acknowledging this fact, we attempt to show the limits of current guidelines used in international genome diversity studies, following this up by a formulation of theses designed to facilitate an appropriate inquiry and ethical evaluation of intercultural dimensions of genome research. (shrink)
Rapid advances in high throughput genomic technologies and next generation sequencing are making medical genomic research more readily accessible and affordable, including the sequencing of patient and control whole genomes and exomes in order to elucidate genetic factors underlying disease. Over the next five years, the Human Heredity and Health in Africa (H3Africa) Initiative, funded by the Wellcome Trust (United Kingdom) and the National Institutes of Health (United States of America), will contribute greatly towards sequencing of numerous African samples for (...) biomedical research. (shrink)
This article assesses the potential impact of current genomics research on human rights against the backdrop of the eugenics movement in the English-speaking world during first third of the twentieth century, The echo of eugenic interventions in societies far beyond Nazi Germany reverberates in the ethical debates triggered by the potential inherent in recent molecular biological developments. Mandatory eugenic restrictions of reproductive freedom seem less likely in countries committed to civil liberties than under authoritarian governments. More likely, consumer choice might (...) sustain a trend towards voluntary “improvement” of biological inheritance in the future. However, the increasing availability of genetic information and the patenting of human genes may lead, respectively, to a loss of reproductive autonomy and a reduction in equitable access to medical care; hence new regulations and/or legislation may be required to ensure appropriate control over genetic information and use of intellectual property rights in human genes. (shrink)
This paper explores the intersections between national identity and the production of medical/population genomics in Mexico. The ongoing efforts to construct a Haplotype Map of Mexican genetic diversity offers a unique opportunity to illustrate and analyze the exchange between the historic-political narratives of nationalism, and the material culture of genomic science. Haplotypes are central actants in the search for medically significant SNP’s (single nucleotide polymorphisms), as well as powerful entities involved in the delimitation of ancestry, temporality and variability (www.hapmap.org). By (...) following the circulation of Haplotypes, light is shed on the alignments and discordances between socio-historical and bio-molecular mappings. The analysis is centred on the comparison between the genomic construction of time and ethnicity in the laboratory (through participant observation), and on the public mobilisation of a “Mexican Genome” and its wider political implications. Even though both: the scientific practice and the public discourse on medical/population genomics are traversed by notions of “admixture”, there are important distinctions to be made. In the public realm, the nationalist post-revolutionary ideas of Jose Vasconcelos, as expressed in his Cosmic Race (1925), still hold sway in the social imaginary. In contrast, admixture is treated as a complex, relative and probabilistic notion in laboratory practices. I argue that the relation between medical/population genomics and national identity is better understood as a process of re-articulation (Fullwiley Social Studies of Science 38:695, 2008), rather than coproduction (Reardon 2005) of social and natural orders. The evolving process of re-articulation conceals the novelty of medical/population genomics, aligning scientific facts in order to fit the temporal and ethnic grids of “Mestizaje”. But it is precisely the social and political work, that matches the emerging field of population genomics to the pre-existing projects of national identity, what is most revealing in order to understand the multiple and even subtle ways in which population genomics challenges the historical and identitarian frames of a “Mestizo” nation. (shrink)
The importance of viruses as model organisms is well-established in molecular biology and Max Delbrück's phage group set standards in the DNA phage field. In this paper, I argue that RNA phages, discovered in the 1960s, were also instrumental in the making of molecular biology. As part of experimental systems, RNA phages stood for messenger RNA (mRNA), genes and genome. RNA was thought to mediate information transfers between DNA and proteins. Furthermore, RNA was more manageable at the bench than (...) DNA due to the availability of specific RNases, enzymes used as chemical tools to analyse RNA. Finally, RNA phages provided scientists with a pure source of mRNA to investigate the genetic code, genes and even a genome sequence. This paper focuses on Walter Fiers’ laboratory at Ghent University (Belgium) and their work on the RNA phage MS2. When setting up his Laboratory of Molecular Biology, Fiers planned a comprehensive study of the virus with a strong emphasis on the issue of structure. In his lab, RNA sequencing, now a little-known technique, evolved gradually from a means to solve the genetic code, to a tool for completing the first genome sequence. Thus, I follow the research pathway of Fiers and his ‘RNA phage lab’ with their evolving experimental system from 1960 to the late 1970s. This study illuminates two decisive shifts in post-war biology: the emergence of molecular biology as a discipline in the 1960s in Europe and of genomics in the 1990s. (shrink)
This article is arranged around two general claims and a thought experiment. I begin by suggesting that the genome should be studied as a developmental system, and that genes supervene on genomes (rather than the other way around). I move on to present a thought experiment that illustrates the implications a dynamic view of the genome has for central concepts in biology, in particular the information content of the genome, and the notion of responses to stress.
There is ongoing controversy as to whether the genome is a representing system (Sterelny K., <span class='Hi'>Smith</span> K.C. and Dickson M. 1996. Biol. Philos. 11: 377–403; Griffiths P.E. 2001. Philos. Sci. 68: 394–412). Although it is widely recognised that DNA carries information, both correlating with and coding for various outcomes, neither of these implies that the genome has semantic properties like correctness or satisfaction conditions (Godfrey-<span class='Hi'>Smith</span> P. 2002. In: Wolenski J. and Kajania-Placek K. (eds), In the Scope (...) of Logic, Methodology, and the Philosophy of Sciences, Vol. II. Kluwer, Dordrecht, pp. 387–400). Here a modified version of teleosemantics is applied to the genome to show that it does indeed have semantic properties – there is representation in the genome. The account differs in three respects from previous attempts to apply teleosemantics to genes. It emphasises the role of the consumer of representations (in addition to their mode of production). It rejects the standard assumption that genetic representation can be used to explain the course of an organism’s development. And it identifies the explanatory role played by representational properties of the genome. A striking consequence of this account is that other inheritance systems could also be representational. Thus, a version of the parity thesis is accepted (Griffiths P.E. 2001. Philos. Sci. 68: 394–412). However, the criteria for being an inheritance system are demanding, so semantic properties are not ubiquitous. (shrink)
Developments in the sequencing of whole genomes and in simultaneously surveying many thousands of transcription and translation products of specific cells have ushered in a conceptual revolution in genetics that rationally introduces top-down, holistic analyses. This emphasized the futility of attempts to reduce genes to structurally discrete entities along the genome, and the need to return to Johannsen's definition of a gene as 'something' that refers to an invariant entity of inheritance and development. We may view genes either as (...) generic terms for units of inheritance whose referents are pragmatic ad hoc and context-dependent, or as (epistemologically) representing entities of cell functions. It is cellular functions that determine the structural referents along the DNA. Structures that happened to secure specific functions that were essential for or conducive to the survival of cells were selected for. With natural selection being the etiological background of genes as functions, genes obtain again their theoretical role as intervening variables, abstractive variables that purely 'summarize' characters. The importance of DNA sequences is that of all possible phenotypes these are the most basic ones from which we can read off the genotype directly. (shrink)
The Human Genome Project has raised many issues regarding the contributions of genetics to a variety of diseases and societal conditions. With genetic testing now easily conducted with lowered costs in nonmedical domains, a variety of privacy issues must be considered. Such testing will result in the loss of significant privacy rights for the individual. Society must now consider such issues as the ownership of genetic data, confidentiality rights to such information, limits placed on genetic screening, and legislation to (...) control genetic testing and its applications. There is often a conflict between individual rights to privacy and the need for societal protection. (shrink)
Through an examination of the actual research strategies and assumptions underlying the Human Genome Project (HGP), it is argued that the epistemic basis of the initial model organism programs is not best understood as reasoning via causal analog models (CAMs). In order to answer a series of questions about what is being modeled and what claims about the models are warranted, a descriptive epistemological method is employed that uses historical techniques to develop detailed accounts which, in turn, help to (...) reveal forms of reasoning that are explicit, or more often implicit, in the practice of a particular field of scientific study. It is suggested that a more valid characterization of the reasoning structure at work here is a form of case-based reasoning. This conceptualization of the role of model organisms can guide our understanding and assessment of these research programs, their knowledge claims and progress, and their limitations, as well as how we educate the public about this type of biomedical research. (shrink)
Should we change the human genome? The most general arguments against changing the human genome are here in focus. Distinctions are made between positive and negative gene therapy, between germ-line and somatic therapy, and between therapy where the intention is to benefit a particular individual (a future child) and where the intention is to benefit the human gene-pool.Some standard arguments against gene-therapy are dismissed. Negative somatic therapy is not controversial. Even negative, germ-line therapy is endorsed, if the intention (...) is to cure a certain individual (a future child). In rare cases, positive therapy on somatic cells may be warranted. Germ-line therapy may become a valuable method of preventing harm, through genetic vaccination. If safe methods evolve, it is harmless (though vain), to try to achieve more ambitious goals. Prospective parents should not be prevented from exercising this harmless kind of parental authority. (shrink)
Issues in genetics and genomics have been centre stage in Bioethics for much of its history, and have given rise to both negative and positive imagined futures. Ten years after the completion of the Human Genome Project, it is a good time to assess developments. The promise of whole genome sequencing of individuals requires reflection on personalization, genetic determinism, and privacy.
This contribution will be organized in three parts conceptually linked to each other. The first one will concern the ancient question “what is life?” seen according to a modern systemic view, the second with evolution based on Darwinian natural selection, the third with the notion of “being human” in relation to our genome.
Whereas telomeres protect terminal ends of linear chromosomes, telomerases identify natural chromosome ends, which differ from broken DNA and replicate telomeres. Although telomeres play a crucial role in the linear chromosome organization of eukaryotic cells, their molecular syntax most probably descended from an ancient retroviral competence. This indicates an early retroviral colonization of large double-stranded DNA viruses, which are putative ancestors of the eukaryotic nucleus. This contribution demonstrates an advantage of the biosemiotic approach towards our evolutionary understanding of telomeres, telomerases, (...) other reverse transcriptases and mobile elements. Their role in genetic/genomic content organization and maintenance is no longer viewed as an object of randomly derived alterations (mutations) but as a highly sophisticated hierarchy of regulatory networks organized and coordinated by natural genome-editing competences of viruses. (shrink)
New concepts may prove necessary to profit from the avalanche of sequence data on the genome, transcriptome, proteome and interactome and to relate this information to cell physiology. Here, we focus on the concept of large activity-based structures, or hyperstructures, in which a variety of types of molecules are brought together to perform a function. We review the evidence for the existence of hyperstructures responsible for the initiation of DNA replication, the sequestration of newly replicated origins of replication, cell (...) division and for metabolism. The processes responsible for hyperstructure formation include changes in enzyme affinities due to metabolite-induction, lipid-protein affinities, elevated local concentrations of proteins and their binding sites on DNA and RNA, and transertion. Experimental techniques exist that can be used to study hyperstructures and we review some of the ones less familiar to biologists. Finally, we speculate on how a variety of in silico approaches involving cellular automata and multi-agent systems could be combined to develop new concepts in the form of an Integrated cell (I-cell) which would undergo selection for growth and survival in a world of artificial microbiology. (shrink)
Background: As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes. This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences. One important development is the rise of personal genome testing on the basis of genetic profiling: the testing of multiple genetic variants (...) simultaneously for the prediction of common multifactorial diseases. Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics.DiscussionThis paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility. These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent. Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing. Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.'SummaryConsideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases. Four key characteristics of the test - targeted/non-targeted testing, analytical validity, clinical validity and clinical utility - together determine the applicability and the relevance of ELSI to specific tests. The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility. (shrink)
We have synthesized a 582,970-base pair Mycoplasma genitalium genome. This synthetic genome, named M. genitalium JCVI-1.0, contains all the genes of wild-type M. genitalium G37 except MG408, which was disrupted by an antibiotic marker to block pathogenicity and to allow for selection. To identify the genome as synthetic, we inserted "watermarks" at intergenic sites known to tolerate transposon insertions. Overlapping "cassettes" of 5 to 7 kilobases (kb), assembled from chemically synthesized oligonucleotides, were joined by in vitro recombination (...) to produce intermediate assemblies of approximately 24 kb, 72 kb ("1/8 genome"), and 144 kb ("1/4 genome"), which were all cloned as bacterial artificial chromosomes in Escherichia coli. Most of these intermediate clones were sequenced, and clones of all four 1/4 genomes with the correct sequence were identified. The complete synthetic genome was assembled by transformation-associated recombination cloning in the yeast Saccharomyces cerevisiae, then isolated and sequenced. A clone with the correct sequence was identified. The methods described here will be generally useful for constructing large DNA molecules from chemically synthesized pieces and also from combinations of natural and synthetic DNA segments. 10.1126/science.1151721. (shrink)
In the debate regarding the different possibilities for gene therapy, it is presupposed that the manipulations are limited to the nuclear genome (nDNA). Given recent advances in genetics, mitochondrial genome (mtDNA) and diseases must be considered as well. In this paper, we propose a three dimensional framework for the ethical debate of gene therapy where we add the genomic type (nDNA vs. mtDNA) as a third dimension to be considered beside the paradigmatic dimensions of target cell (somatic vs. (...) germ-line) and purpose (therapeutic vs. enhancement). Somatic gene therapy can be viewed today as generally accepted, and we review t he contemporary arguments surrounding it on the basis of bioethical-pragmatic, socio-political and deontological classifications. Many of the supposed ethical questions of somatic gene therapy today are not new; they are well-known issues of research ethics. We also critically summarize the different international perspectives and the German ethical discussion regarding manipulations of germ-line cells. (shrink)
For the first time in history, genetics will enable science to completely identify each human as genetically unique. Will this knowledge reinforce the trend for more individual liberties or will it create a ‘brave new world’? A law policy approach to the problems raised by the human genome project shows how far our democratic institutions are from being the proper forum to discuss such issues. Because of the fears and anxiety raised in the population, and also because of its (...) wide implications on the everyday life, the human genome analysis more than any other project needs to succeed in setting up such a social assessment. Keywords: human genome project, judiciary law policy, legislative activity, new ethics institutions, methodology in law reform, public debate, social consensus CiteULike Connotea Del.icio.us What's this? (shrink)
Two groups of researchers released the formal report of data for the human genome last Monday -- on the birthday of Charles Darwin, who jump-started our biological understanding of life's nature and evolution when he published ''The Origin of Species'' in 1859. On Tuesday, and for only the second time in 35 years of teaching, I dropped my intended schedule -- to discuss the importance of this work with my undergraduate course on the history of life. (The only other (...) case, in a distant age of the late 60's, fell a half-hour after radical students had seized University Hall and physically ejected the deans; this time at least, I told my students, the reason for the change lay squarely within the subject matter of the course!). (shrink)
This paper examines some ethical issues arising from whole-genome association studies for multigenic diseases, focusing on the case of autism. Events occurring following the announcement of a genetic test for autism in France (2005–2009) are described to exemplify the ethical controversies that can arise when genetic testing for autism is applied prematurely and inappropriately promoted by biotech companies. The authors argue that genetic tests assessing one or a few genes involved in highly multigenic disorders can only be useful if: (...) (1) the genetic linkage found in the scientific study must be statistically convincing, reproducible and also applicable to the population to which the individual considered belongs (scientific validity); (2) the relative risk conferred by the ‘high-risk’ allele should be high enough to be significant to the patient (significant impact); (3) use of the test should lead to some improvement of outcome for the patient, resulting from adapted treatment if available, or at least from adjustment of lifestyle (or life goals) prompted by the new knowledge generated (clinical utility). Decisions concerning genetic testing for autism involve scientific judgement, value judgement and good knowledge of a constantly evolving therapeutic environment. The implementation of genetic tests for highly multigenic diseases thus requires strong mechanisms to ensure that they are used in a fashion that can benefit patients, and these mechanisms must be able to cope with rapid progress in scientific knowledge and therapeutic intervention. (shrink)
There are a number of controversies surrounding the Human Genome Project (HGP). Some criticisms are based on the contention that the full human sequence will be scientifically worthless; others stem from short-term worries about the social impact of genetic testing and the release of genetic information about individuals. I argue that, properly understood, the HGP is a valuable scientific project with a misleading name, that the moral issues surrounding the short-term difficulties are relatively straightforward but that there (...) are problems of practical politics in implementing the obvious solutions. Finally, I suggest that the HGP serves as the occasion for raising deeper philosophical questions about our commitment to improve the quality of human lives. (shrink)
Implicit God-like and ghost-in-the-machine metaphors underlie much current thinking about genomes. Although many criticisms of such views exist, none have succeeded in substituting a different, widely accepted view. Viewing the genome with its protein packaging as a brain gets rid of Gods and ghosts while plausibly integrating machine and information-based views. While the ‘wetware’ of brains and genomes are very different, many fundamental principles of how they function are similar. Eukaryotic cells are compound entities in which case the nuclear (...)genome might best be thought of more as a government than simply as a brain. (shrink)
While the 1970's have been called the environmental years, the 1990's could be seen as the genome years. As the challenge to map and to sequence the human genome mobilized the scientific community, risks and benefits of information and uses that would derive from this project have also raised ethical issues at the international level. The particular interest of the 1997 UNESCO Declaration relies on the fact that it emphasizes both the scientific importance of genetics and the appropriate (...) reinforcement of human rights in this area. It considers the human genome, at least symbolically, as the common heritage of humanity. (shrink)
A hypothesis of genome structural evolution is explored. Rapid and cohesive alterations in genome organization are viewed as resulting from the dynamic and constrained interactions of chromosomal subsystem components. A combination of macromolecular boundary conditions and DNA element involvement in far-from-equilibrium reactions is proposed to increase the complexity of genomic subsystems via the channelling of genome turnover; interactions between subsystems create higher-order subsystems expanding the phase space for further genetic evolution. The operation of generic constraints on structuration (...) in genome evolution is suggested by i) universal, homoplasic features of chromosome organization and ii) the metastable nature of genome structures where lower-level flux is constrained by higher-order structures. Phenomena such as genomic shock, bursts of transposable element activity, concerted evolution, etc., are hypothesized to result from constrained systemic responses to endogenous/exogenous, micro/macro perturbations. The constraints operating on genome turnover are expected to increase with chromosomal structural complexity, the number of interacting subsystems, and the degree to which interactions between genomic components are tightly ordered. (shrink)
The Human Genome Project (HGP) is regarded by many as one of the major scientific achievements in recent science history, a large-scale endeavour that is changing the way in which biomedical research is done and expected, moreover, to yield considerable benefit for society. Thus, since the completion of the human genome sequencing effort, a debate has emerged over the question whether this effort merits to be awarded a Nobel Prize and if so, who should be the one(s) to (...) receive it, as (according to current procedures) no more than three individuals can be selected. In this article, the HGP is taken as a case study to consider the ethical question to what extent it is still possible, in an era of big science, of large-scale consortia and global team work, to acknowledge and reward individual contributions to important breakthroughs in biomedical fields. Is it still viable to single out individuals for their decisive contributions in order to reward them in a fair and convincing way? Whereas the concept of the Nobel prize as such seems to reflect an archetypical view of scientists as solitary researchers who, at a certain point in their careers, make their one decisive discovery, this vision has proven to be problematic from the very outset. Already during the first decade of the Nobel era, Ivan Pavlov was denied the Prize several times before finally receiving it, on the basis of the argument that he had been active as a research manager (a designer and supervisor of research projects) rather than as a researcher himself. The question then is whether, in the case of the HGP, a research effort that involved the contributions of hundreds or even thousands of researchers worldwide, it is still possible to individualise the Prize? The HGP Nobel Prize problem is regarded as an exemplary issue in current research ethics, highlighting a number of quandaries and trends involved in contemporary life science research practices more broadly. (shrink)
The economic costs to the insurers of complementary routine genetic testing would outweigh the benefits. However, should testing technology in future be refined so as to produce a cheap and reliable test, there is no reason why insurers might not take up predictive testing as part of the normal underwriting process. It is this possibility which justifies formulating a pre-emptive policy. At the very least, there are reasons for promoting and protecting the welfare of the proposer so as to redress (...) the bargaining positions between him or her as a consumer of a service and the insurer as a commercial concern. Further considerations relate to the social purpose of insurance as a social mechanism, and the need to find ways of avoiding undermining this in light of Human Genome Project. (shrink)
The Human Genome Project (HGP) has been criticised from an evolutionary perspective for three reasons: completely ignoring genetic variation; improperly treating either all or some genetic variation as deviation from a norm; and mistakenly seeking to define species in terms of essential properties possessed by all and only member organisms. The first claim is unfounded; the second and third claims are more on target. Nevertheless, it is a mistake to use the typological-population distinction to oppose molecular genetics and evolutionary (...) genetics in order to characterise HGP mapping and sequencing aims, especially the production of a DNA reference sequence, as 'anti-evolutionary' and 'pre-Darwinian.' These aims are consistent with certain strands in twentieth-century evolutionary thought: Muller's classical theory, Kimura's neutral and 'effectively neutral' theories, and, to a lesser extent, Dobzhansky's balance theory of the genetic structure of natural populations. In practice, population-based approaches to human genetic variation are similarly vulnerable to charges of 'typological' and 'essentialist' thinking in their treatment of genetic variation as deviation. This means that the Human Genome Diversity Initiative will not provide a population-based panacea for an overly typological HGP, as its proponents contend. Substituting related, and less rhetorically-charged, conceptual, empirical, and metaphysical distinctions for the typological-population distinction furnishes a better way to assess the concept of the normal genome from an evolutionary perspective. (shrink)
Merleau-Ponty, la passivité et la scienceJe soutiens qu’il y a plus en jeu dans l’intérêt de Merleau-Ponty pour la science qu’une simple dialectique entre disciplines. C’est parce que son évolutionméthodologique le conduit à trouver dans la science un moyen spécifique d’approfondir ses recherches ontologiques, que celle-ci hante de plus en plus sa philosophie. En effet, dans le chapitre « champ phénoménal » de la Phénoménologie de la perception, il est possible de rapprocher certains aspects de son défi méthodologique et l’idée (...) selon laquelle la philosophie tient son origine d’une conscience réflexive, active et autonome dans son ensemble. Je lie cela aux problèmes de la passivité de telle sorte que la science apparaisse comme une façon de saisir la réflexion non pas comme autonome, mais comme une opération du champ phénomenal, comme réflexion radicale. Grâce à l’analyse critique des recherches récentes sur le génome, je montre ensuite commentl’embryologie peut nous aider à conceptualiser la vie comme un champ phénoménal, c’est-à-dire comme un champ qui engendre ce même genre d’opérations qui caractérisent aussi la phénoménalité. Cela nous conduit à voir la phénomenologie non plus comme une réflexion de survol sur les phénomènes, mais plutôt comme une réflexion radicale qui se realise à travers un phénoménalité plus « ancienne », qui appartient à la vie ellemême. Cela ouvre également des perspectives sur quelques problèmes difficiles de la dernière philosophie de Merleau-Ponty; ceux-ci sont abordés d’une manière nouvelle, grâce au rapprochement de sa première philosophie et de la science actuelle.Merleau-Ponty, la passività e la scienzaRitengo che, nell’interesse che Merleau-Ponty rivolge alla scienza, vi sia in gioco qualcosa di più del semplice confronto dialettico con un’altra disciplina. Il motivo è che il suo impegno metodologico finisce per individuare nella scienza una speciale risorsa per l’indagine di quelle profonde questioni ontologiche che investono in modo crescente la sua filosofia. Intendo argomentare tale ipotesi, connettendo dei passi del capitolo di Fenomenologia della percezione “Il campo fenomenico” con la sua sfida metodologica all’idea che la filosofia abbia inizio da una coscienza riflessiva autonoma e interamente attiva. Collego questo alle questioni della passività in un modo che rivela la scienza come una potenziale risorsa per comprendere la riflessione non come autonoma, bensì in quanto operazione di e nel campo fenomenico – come riflessione radicale. Poi, attraverso un’analisi critica dei risultati recenti riguardanti il DNA regolatore, mostrocome l’attuale embriologia può aiutarci a concettualizzare la vita come un campo fenomenico che implicitamente produce i tipi di operazioni rivelatrici distintive della fenomenalità. Questo ci permette di collocare la fenomenologia non semplicemente come una riflessione dall’alto sui fenomeni, ma come una riflessione radicale che opera grazie ad una “più antica” fenomenalità della vita. Questo ci fornisce degli spunti su alcune difficili questioni nella filosofia dell’ultimo Merleau-Ponty, suggerendo un nuovo percorso che giunga a queste combinando il primo periodo della sua filosofia con la scienza recente. (shrink)
This paper attempts to better define the areas of conflict and agreement between value ethics and the theoretical ethics of the market processes at work in the biotechnology industry. Despite the apparent lack of ethics in an oligopolistically competitive pharmaceuticals industry, the paper concludes that the current stage of development of the medical biotechnology subindustry offers unparalleled opportunities for ethical systems to influence the market-based development of biotechnology. Ethical conversations between doctors and biologists with ethicists can help the market absorb (...) more of the reflective wisdom that ethics brings when discussing such issue areas as justice, patents of the human genome, and modifications of the human genome. If conversations between ethicists and biotechnological managers and doctors are successful the metaphors of market-based financing may be refined and the knowledge base of the good increased. (shrink)
Purpose: This study explores social networkers' interest in and attitudes toward personal genome testing (PGT), focusing on expectations related to the clinical integration of PGT results. Methods: An online survey of 1,087 social networking users was conducted to assess 1) use and interest in PGT; 2) attitudes toward PGT companies and test results; and 3) expectations for the clinical integration of PGT. Descriptive statistics were calculated to summarize respondents' characteristics and responses. Results: Six percent of respondents have used PGT, (...) 64% would consider using PGT, and 30% would not use PGT. Of those who would consider using PGT, 74% report they would use it to gain knowledge about disease in their family. 34% of all respondents consider the information obtained from PGT to be a medical diagnosis. 78% of those who would consider PGT would ask their physician for help interpreting test results, and 61% of all respondents believe physicians have a professional obligation to help individuals interpret PGT results. Conclusion: Respondents express interest in using PGT services, primarily for purposes related to their medical care and expect physicians to help interpret PGT results. Physicians should therefore be prepared for patient demands for information and counsel on the basis of PGT results. (shrink)
Progress in gene sequencing could make rapid whole genome sequencing of individuals affordable to millions of persons and useful for many purposes in a future era of genomic medicine. Using the idea of $1000 genome as a focus, this article reviews the main technical, ethical, and legal issues that must be resolved to make mass genotyping of individuals cost-effective and ethically acceptable. It presents the case for individual ownership of a person's genome and its information, and shows (...) the implications of that position for rights to informed consent and privacy over sequencing, testing, and disclosing genomic information about identifiable individuals. Legal recognition of a person's right to control his or her genome and the information that it contains is essential for further progress in applying genomic discoveries to human lives. (shrink)
It is becoming increasingly evident that the driving forces of evolutionary novelty are not randomly derived chance mutations of the genetic text, but a precise genome editing by omnipresent viral agents. These competences integrate the whole toolbox of natural genetic engineering, replication, transcription, translation, genomic imprinting, genomic creativity, enzymatic inventions and all types of genetic repair patterns. Even the non-coding, repetitive DNA sequences which were interpreted as being ancient remnants of former evolutionary stages are now recognized as being of (...) viral descent and crucial for higher-order regulatory and constitutional functions of protein structural vocabulary. In this article I argue that non-randomly derived natural genome editing can be envisioned as (a) combinatorial (syntactic), (b) context-specific (pragmatic) and (c) content-sensitive (semantic) competences of viral agents. These three-leveled biosemiotic competences could explain the emergence of complex new phenotypes in single evolutionary events. After short descriptions of the non-coding regulatory networks, major viral life strategies and pre-cellular viral life three of the major steps in evolution serve as examples: There is growing evidence that natural genome-editing competences of viruses are essential (1) for the evolution of the eukaryotic nucleus, (2) the adaptive immune system and (3) the placental mammals. (shrink)
Glenn McGee argues that the time is now for debating the morality of patenting human genes. In one sense he is surely right. While thousands of patents have been issued or are pending on many gene sequences, public policy with respect to ownership of the human genome is still far from settled. So a debate about the ethics of patenting genes is, if nothing else, timely. In another sense however, Professor McGee is wrong.
The Human Genome Initiative represents an ambitious attempt to map the genetic structure of the human species (an estimated 100,00 genes). The project has generated a vast amount of theological and ethical literature, none of which discusses the impact of the project on understandings of embodiment. This gap is surprising since Michael Polanyi and, more recently, feminist thinkers have argued that embodiment is central to human existence. I argue that theologians and scientist can teach one another some important lessons (...) about embodiment by exploring some of the literature produced by the project and the anthropologies of Karl Rahner, Wolfhart Pannenberg, Stanley Hauerwas and James McClendon. (shrink)
The genome is one of the primordial elements of the human being and is responsible for human identity and its transmission to descendants. The gene as such ought not be appropriated or owned by man. However, any sufficiently complete description of a gene should be capable of being protected as intellectual property. Furthermore, all utilisations of a gene or its elements that permit development of processes or new products should be patentable. Ethics, in the sense of moral action, should (...) come into play from the very first stages of research into the human genome. Protection of intellectual and industrial property is of purely legal concern and need not provoke ethical consideration. By contrast, the use of the results of, and in particular the commercialisation of products deriving from, research into the human genome, ought to be subjected to ethical consideration and control. Considering the economic and societal stakes of such research, ethical analysis ought to be at an international level if mistakes and unforeseen risks of conflict are to be avoided. (shrink)