Personal website: https://alexandrasoulier.wixsite.com/website Alexandra Soulier, Ph.D. in Philosophy, conducts research at the crossroads of epistemology, political philosophy and ethics, with the aim to explore how technological innovation affects biomedical practices and re-questions the values of research and care.
This report is prepared within the context of a European project called SIENNA, which was selecte... more This report is prepared within the context of a European project called SIENNA, which was selected to fulfil the grant call SWAFS-18-2016 . The aims are to identify and present ELSI in human genetics and genomics, both present and emerging issues with a relatively short time horizon. First, we report a presentation of the SIENNA approach to ethical analysis, situated in the landscape of other existing frameworks developed for studying ELSI of genomics. We discuss the merits and challenges of different types of investigations pursued in SIENNA: foresight analysis; overview of ELSI of genomics in 11 countries; public survey in 11 countries; and focus groups in 5 countries. Secondly, we provide an extensive ethical analysis of human genomics . In particular, we focus on the ethical issues pertaining to two areas of human genomics: 1) the study of the genome as currently performed through high throughput sequencing (e.g. with tools such as next generation sequencers); and 2) gene editin...
Dans le champ de la recherche en genomique, comme dans d'autres domaines tres informatises, l... more Dans le champ de la recherche en genomique, comme dans d'autres domaines tres informatises, les bases de donnees et les biobanques sont organisees en infrastructures. Ce nouveau modele organisationnel doit permettre de soutenir l'effort technique et collaboratif requis pour traiter des Big Data, c'est-a-dire des jeux de donnees trop volumineux et complexes pour etre traites en utilisant les methodes classiques. L'etablissement de ces nouveaux environnements constitue un veritable defi technique et philosophique. Il requiert, pour etre operationnel, des cadres reglementaires adaptes, ouverts a la fois a l'internationalisation et a des perspectives de long terme, mais certains de ces changements ne sont pas compatibles avec les procedures ethiques courantes, notamment la procedure de consentement eclaire. L'ethique de la recherche en genomique doit donc etre repensee. Faut-il puiser dans la technique les nouvelles solutions de gouvernance de la recherche ? Ou b...
BackgroundEpidemiologists need tools to measure effects of gender, a complex concept originating ... more BackgroundEpidemiologists need tools to measure effects of gender, a complex concept originating in the humanities and social sciences which is not easily operationalized in the discipline. MethodsWe conducted a conceptual analysis and applied causal and mediation analysis methodology to standard questions in order to propose a methodologically appropriate strategy for measuring sex and gender effects in health.ResultsWe define gender as a set of norms prescribed to individuals according to their attributed-at-birth sex. Gender pressure creates a systemic gap, at population level, in behaviors, activities, experiences, etc. between men and women. A pragmatic individual measure of gender would correspond to the level at which an individual complies with a set of elements constituting femininity or masculinity in a given population, place and time. However, defining and measuring gender is not sufficient to isolate the effects of sex and gender on a health outcome. We should also thin...
This deliverable presents a review of the state-of-art of human genomic technologies. It firstly ... more This deliverable presents a review of the state-of-art of human genomic technologies. It firstly provides a brief description and history of the field indicating the shift from relatively small to large scale analyses of DNA (i.e. genetics to genomics). Subsequently, the field of genomic technologies is further defined and demarcated, including its central concepts (such as DNA, genes, genome, sequencing) as well as a description of current and emerging technologies. These include high throughput sequencing used to study the genome and gene editing technologies which are used to modify the genome. Next generation sequencing is currently applied in research on human genomes, in clinical care, in direct-to-consumer setting as well as for forensic purposes. Current and potential clinical uses include to facilitate diagnosis, guide treatment, assess predisposition for diseases, screen (sick) newborns, test foetuses and in carrier screening. Meanwhile, gene editing is currently used only...
Background Public trust is central to the collection of genomic and health data and the sustainab... more Background Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this. Methods We analyse the ‘Your DNA, Your Say’ online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle- and high-income countries, gathered in 15 languages. We examine how participants perceived the relative value of measures to demonstrate the trustworthiness of those using donated DNA and/or medical information. We examine between-country variation and present a consolidated ranking of measures. Results Providing transparent information about who will benefit from data access was the most important measure to increase trust, endorsed by more than 50% of participants across 20 of 22 countries. It was followed by the o...
Background:A better insight into older adults’understanding of and attitude towards cognitive dis... more Background:A better insight into older adults’understanding of and attitude towards cognitive disorders andtheir prevention, as well as expectations and reasons for participation in prevention trials, would help design,conduct, and implement effective preventive interventions. This qualitative study aimed at exploring the knowledgeand perceptions of cognitive disorders and their prevention among participants in a prevention trial.
Methods:Semi-structured interviews were conducted among the participants of a multinational randomisedcontrolled trial testing the efficacy of a lifestyle-based eHealth intervention in preventing cardiovascular disease orcognitive decline in community dwellers aged 65+.
Participants were probed on their reasons for participation inthe trial and their views on general health, cardiovascular disease, ageing, and prevention. The subset of datafocusing on cognitive disorders (15 interviewees; all in Finland) was considered for this study. Data were analysedusing content analysis.Results:Participants’knowledge of the cause and risk factors of cognitive disorders and prevention was limitedand superficial, and a need for up-to-date, reliable, and practical information and advice was expressed. Cognitivedisorders evoked fear and concern, and feelings of hopelessness and misery were frequently expressed, indicating astigma. Strong heredity of cognitive disorders was a commonly held belief, and opinions on the possibility ofprevention were doubtful, particularly in relation to primary prevention. Family history and/or indirect experiencesof cognitive disorders was a recurrent theme and it showed to be linked to both the knowledge of and feelingsassociated with cognitive disorders, as well as attitude towards prevention. Indirect experiences were linked toincreased awareness and knowledge, but also uncertainty about risk factors and possibility of prevention. Distinctfear and concerns, particularly over one’s own cognition/risk, and high motivation towards engaging in preventionand participating in a prevention trial were also identified in connection to this theme.
Biobanks are not new. However, the
scope of their application is growing, especially in genomics.... more Biobanks are not new. However, the scope of their application is growing, especially in genomics. Biobanks are also currently being reorganized to enable more genomic samples to be made available for different types of studies. Some future uses of the biobanks cannot be anticipated. These developments conflict with requirements for provision of informed consent at the moment of recruitment for studies. A procedure known as Dynamic Consent (DC) has thus been proposed that, based on information and communication technologies (ICT), should allow participants to consent in real time to projects in which their samples and data may be of interest. In addition, DC would empower participants through ongoing access to information and communication and direct consultation. As such, DC aligns itself with other ICT projects in claiming to be a democratic tool. We critique these claims and highlight their adverse impacts in order to examine the ethical and political consequences of transforming research participants into ICT users.
Objectives: To explore older adults' reasons for participating in a multinational eHealth prevent... more Objectives: To explore older adults' reasons for participating in a multinational eHealth prevention trial, and compare motivations between countries. Design: Cross-sectional mixed methods research using quantitative and qualitative approaches (the ACCEPT-HATICE study). Setting and Participants: Substudy conducted during the recruitment phase of an 18-month RCT testing the efficacy of an eHealth intervention for self-management of risk factors for cardiovascular disease (CVD) and cognitive decline in older adults in Finland, France, and the Netherlands. Participants were 343 N. Coley, A. Rosenberg, and T. van Middelaar contributed equally to the study. The authors declare no conflicts of interest.
Transversal: International Journal for the Historiography of Science, 2018
The term " genetic load " first emerged in a paper written in 1950 by the geneticist H. Muller. I... more The term " genetic load " first emerged in a paper written in 1950 by the geneticist H. Muller. It is a mathematical model based on biological, social, political and ethical arguments describing the dramatic accumulation of disadvantageous mutations in human populations that will occur in modern societies if eugenic measures are not taken. The model describes how the combined actions of medical and social progress will supposedly impede natural selection and make genes of inferior quality likely to spread across populations – a process which in fine loads their progress. Genetic load is based on optimal fitness and emerges from a " typo-logical view " of evolution. This model of evolution had previously, however, been invalidated by Robert Wright and Theodosius Dobzhansky who, as early as 1946, showed that polymor-phism was the rule in natural populations. The blooming and persistence of the concept of genetic load, after its theoretical basis had already expired, are a historical puzzle. This persistence reveals the intricacy of science and policy-making in eugenic matters. The Canguil-hemian concept of 'scientific ideology' (1988) is used along with the concept of 'immutable mobile' (Latour 1986) and compared with the concept of 'co-production' (Jasanoff 1998), to provide complementary perspectives on this complex phenomenon.
Genomic technologies are developing at a time when greater public involvement in research and cli... more Genomic technologies are developing at a time when greater public involvement in research and clinical governance is sought. To this end, empirical bioethics studies, although conceptualized as academic endeavors, may draw on the inclusion of laypeople to justify informing policy. Doing so, they face similar concerns as those addressed to public consultations which cannot be termed democratic a priori and may reinforce the authority of experts. We reflect on these concerns in the process of analyzing the results of a qualitative analysis of eight focus groups (64 participants) held in France during 2010–2012, designed to understand laypeople’s views of the ethical debates surrounding genomic medicine. We examine how the notions of “lay” and “expert” play in the framework of the study and how participants situate themselves along this divide. This understanding of the social context in which the publics are situated enables a more reflexive and accurate ethical analysis.
Le terme de biobanque désigne une collection d'échantillons biologiques associés à des données pe... more Le terme de biobanque désigne une collection d'échantillons biologiques associés à des données personnelles, destinée à servir la recherche scienti-fique. Les pratiques de recueil et de conservation du matériel biologique sont en constante évolution. Elles s'adaptent à la fois aux contextes changeants des institutions scientifiques, aux innovations d'ordre technologique et à l'émergence de nouvelles formes d'organisations. Ces adaptations doivent aussi permettre de valoriser les collections en multipliant les usages possibles des ressources biologiques et leur réutilisation future. Les orientations favorisant le développement des biobanques sur le long terme posent cependant problème du point de vue de l'éthique de la recherche biomédicale. Parce que nul n'est en mesure de prédire pour quelle étude spécifique les échantillons et données recueillis au sein des biobanques serviront précisément dans l'avenir, les éventuels participants des « nouvelles biobanques » se trouvent dans l'impossibilité de consentir à des recherches dont on ne peut anticiper ni la nature, ni la finalité. Les incer-titudes relatives aux directions, méthodes et enjeux de la recherche à venir empêchent de proposer une procédure de « consentement éclairé » adap-tée au présent.
Résumé (en français) :
Pour des raisons qui tiennent autant aux pratiques d’intervention sur les ... more Résumé (en français) : Pour des raisons qui tiennent autant aux pratiques d’intervention sur les corps des participants à la recherche, qu’aux cadres conceptuels historiquement constitués dans l’éthique biomédicale, la personne est au centre de la l’éthique de la recherche depuis les origines de la discipline. Pourtant l’émergence de nouvelles pratiques, notamment en génomique humaine, nous invite aujourd’hui à envisager les demandes de protection, d’autonomie et de respect à un autre niveau : celui du groupe humain. Il s’agit par conséquent de préciser en quoi le « groupe humain » pourrait constituer un sujet pertinent de l’éthique de la recherche en génomique puis de nous demander si cette proposition est légitime, faisable et désirable. Abstract (en english) : For reasons that relate as much to interventional practices as to the conceptual frameworks historically embodied in biomedical ethics, the person has been at the center of the research ethics since the origins of discipline. Yet the emergence of new practices, especially in human genomics, invites us to consider the demands of protection, autonomy and respect on another level: that of the human group. It is therefore necessary to clarify how the "human group" could be a relevant topic in the ethics of genomics research and then ask if this proposal is legitimate, feasible and desirable.
As the demand for genetic analysis is increasing in the health care system, the extension of diag... more As the demand for genetic analysis is increasing in the health care system, the extension of diagnostic tests for genetic disorders is urgently needed. The majority of genetic diseases are molecularly and clinically highly heterogeneous and until recently, the available techniques lacked the required capacity to test several genes in parallel. Next generation sequencing technologies provide a unique opportunity to develop new diagnostic tools for heterogeneous genetic diseases. But their clinical use raises major and previously unreleased issues which need to be brought into sharp focus. The general problem could be summarized as follows: the rapid penetration of systematic technologies into genetic medical departments blurs established frontiers between research and clinics. A huge amount of personal medical data will therefore be produced, including a large part of results irrelevant to any particular clinical problem but which may be of importance to the patient in other ways or in the future. Our present inability to interpret most of the data requires careful ethical consideration but questions of personal data storage, eventual updating and possibilities to re-contact patients and families are also involved and require the development of appropriate rules or guidelines prior to clinical implementation.
High throughput genetic technologies offer the opportunity to gain precision in the diagnosis of ... more High throughput genetic technologies offer the opportunity to gain precision in the diagnosis of numerous diseases and to better understand their molecular basis. However they bring new practical and ethical challenges, some of which are foreseeable and therefore amenable to the timely adoption of strategies to ensure that they are introduced and used in a just and beneficial manner. One way of foreseeing these challenges is to examine technologies that have already been transferred from research to the clinical setting in order to identify the ethical issues and develop strategies to move forward in an ethical way. One such model for new genetic technologies is Array Comparative Genomic Hybridization (aCGH), which has been gradually adopted in recent years as a standard technique in clinical genetics. CGH challenging current clinical practice regarding the detection and diagnosis of human chromosome abnormalities in intellectual disability (ID) and congenital malformations in children. Experience with aCGH has shown that it delivers an unprecedented volume of information for patients, counsellors, and health care providers but it also raises specific ethical challenges which can serve as signposts for potential issues with future, even more detailed, genetic technologies. These issues are described and illustrated through case histories, and their consequences for the patient-clinician relationship in genetic consultation are discussed. The consequences of employing this technology, as compared to the more traditional genetic diagnostic methods used in cases of intellectual disability are categorised into issues linked to 1) the vulnerable nature of patients who are mostly children, mentally retarded people or "future parents"; 2) the way in which information is controlled at each stage of the process, as a function of its potential relevance to the clinical condition being diagnosed, 3) the information related to conditions other than ID or "incidental findings" that become the rule with high throughput technologies. The issues highlighted by the clinical scenarios discussed here can be expected to occur with even greater frequency in the future as whole exome and whole genome sequencing are introduced. Building on our experience with the transfer and adoption of aCGH into clinical genetics, we have developed a grid of points to be considered when translating such technologies from research to clinic.
Background Interdisciplinary research and teaching often present similar challenges to investigat... more Background Interdisciplinary research and teaching often present similar challenges to investigators and teachers in higher education settings. Capturing and harnessing disciplinary knowledge from different fields to strengthen the process is desirable. However, in practice, this may be difficult to achieve. In this paper we set out a methodology developed in both research and teaching settings which has successfully brought researchers and participants from different disciplinary backgrounds together to work within a life course framework.
L'épigénétique est une branche de la biologie qui ne bénéficie pas (encore) d’une définition préc... more L'épigénétique est une branche de la biologie qui ne bénéficie pas (encore) d’une définition précise et stable toutefois elle est considérée comme un processus biologique qui vient compléter la génétique et s’inscrit dans sa continuité. Les informations produites par ces deux sciences sont des informations de santé, sensibles comportant des enjeux normatifs particuliers. Il serait aisé de déduire de la familiarité entre information génétique et information épigénétique que celles-ci posent des enjeux normatifs similaires et qu’il convient, par conséquent, de les encadrer de la même manière. Mais la pertinence de ce rapprochement, au niveau juridique, mérite d’être soumise à une analyse approfondie, d’autant plus que l’information génétique est encadrée rigoureusement par le droit français. Nous procéderons donc en deux temps en distinguant d’abord les caractères de l’information épigénétique puis en nous demandant à quel régime il s’avère légitime de la soumettre. Ce travail sera l’occasion de nous appuyer sur des sources diversifiées (scientifiques, historiques et bioéthiques) afin de documenter notre réflexion concernant les enjeux normatifs de ce qui se présente comme un « nouvel » objet de droit.
This report is prepared within the context of a European project called SIENNA, which was selecte... more This report is prepared within the context of a European project called SIENNA, which was selected to fulfil the grant call SWAFS-18-2016 . The aims are to identify and present ELSI in human genetics and genomics, both present and emerging issues with a relatively short time horizon. First, we report a presentation of the SIENNA approach to ethical analysis, situated in the landscape of other existing frameworks developed for studying ELSI of genomics. We discuss the merits and challenges of different types of investigations pursued in SIENNA: foresight analysis; overview of ELSI of genomics in 11 countries; public survey in 11 countries; and focus groups in 5 countries. Secondly, we provide an extensive ethical analysis of human genomics . In particular, we focus on the ethical issues pertaining to two areas of human genomics: 1) the study of the genome as currently performed through high throughput sequencing (e.g. with tools such as next generation sequencers); and 2) gene editin...
Dans le champ de la recherche en genomique, comme dans d'autres domaines tres informatises, l... more Dans le champ de la recherche en genomique, comme dans d'autres domaines tres informatises, les bases de donnees et les biobanques sont organisees en infrastructures. Ce nouveau modele organisationnel doit permettre de soutenir l'effort technique et collaboratif requis pour traiter des Big Data, c'est-a-dire des jeux de donnees trop volumineux et complexes pour etre traites en utilisant les methodes classiques. L'etablissement de ces nouveaux environnements constitue un veritable defi technique et philosophique. Il requiert, pour etre operationnel, des cadres reglementaires adaptes, ouverts a la fois a l'internationalisation et a des perspectives de long terme, mais certains de ces changements ne sont pas compatibles avec les procedures ethiques courantes, notamment la procedure de consentement eclaire. L'ethique de la recherche en genomique doit donc etre repensee. Faut-il puiser dans la technique les nouvelles solutions de gouvernance de la recherche ? Ou b...
BackgroundEpidemiologists need tools to measure effects of gender, a complex concept originating ... more BackgroundEpidemiologists need tools to measure effects of gender, a complex concept originating in the humanities and social sciences which is not easily operationalized in the discipline. MethodsWe conducted a conceptual analysis and applied causal and mediation analysis methodology to standard questions in order to propose a methodologically appropriate strategy for measuring sex and gender effects in health.ResultsWe define gender as a set of norms prescribed to individuals according to their attributed-at-birth sex. Gender pressure creates a systemic gap, at population level, in behaviors, activities, experiences, etc. between men and women. A pragmatic individual measure of gender would correspond to the level at which an individual complies with a set of elements constituting femininity or masculinity in a given population, place and time. However, defining and measuring gender is not sufficient to isolate the effects of sex and gender on a health outcome. We should also thin...
This deliverable presents a review of the state-of-art of human genomic technologies. It firstly ... more This deliverable presents a review of the state-of-art of human genomic technologies. It firstly provides a brief description and history of the field indicating the shift from relatively small to large scale analyses of DNA (i.e. genetics to genomics). Subsequently, the field of genomic technologies is further defined and demarcated, including its central concepts (such as DNA, genes, genome, sequencing) as well as a description of current and emerging technologies. These include high throughput sequencing used to study the genome and gene editing technologies which are used to modify the genome. Next generation sequencing is currently applied in research on human genomes, in clinical care, in direct-to-consumer setting as well as for forensic purposes. Current and potential clinical uses include to facilitate diagnosis, guide treatment, assess predisposition for diseases, screen (sick) newborns, test foetuses and in carrier screening. Meanwhile, gene editing is currently used only...
Background Public trust is central to the collection of genomic and health data and the sustainab... more Background Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this. Methods We analyse the ‘Your DNA, Your Say’ online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle- and high-income countries, gathered in 15 languages. We examine how participants perceived the relative value of measures to demonstrate the trustworthiness of those using donated DNA and/or medical information. We examine between-country variation and present a consolidated ranking of measures. Results Providing transparent information about who will benefit from data access was the most important measure to increase trust, endorsed by more than 50% of participants across 20 of 22 countries. It was followed by the o...
Background:A better insight into older adults’understanding of and attitude towards cognitive dis... more Background:A better insight into older adults’understanding of and attitude towards cognitive disorders andtheir prevention, as well as expectations and reasons for participation in prevention trials, would help design,conduct, and implement effective preventive interventions. This qualitative study aimed at exploring the knowledgeand perceptions of cognitive disorders and their prevention among participants in a prevention trial.
Methods:Semi-structured interviews were conducted among the participants of a multinational randomisedcontrolled trial testing the efficacy of a lifestyle-based eHealth intervention in preventing cardiovascular disease orcognitive decline in community dwellers aged 65+.
Participants were probed on their reasons for participation inthe trial and their views on general health, cardiovascular disease, ageing, and prevention. The subset of datafocusing on cognitive disorders (15 interviewees; all in Finland) was considered for this study. Data were analysedusing content analysis.Results:Participants’knowledge of the cause and risk factors of cognitive disorders and prevention was limitedand superficial, and a need for up-to-date, reliable, and practical information and advice was expressed. Cognitivedisorders evoked fear and concern, and feelings of hopelessness and misery were frequently expressed, indicating astigma. Strong heredity of cognitive disorders was a commonly held belief, and opinions on the possibility ofprevention were doubtful, particularly in relation to primary prevention. Family history and/or indirect experiencesof cognitive disorders was a recurrent theme and it showed to be linked to both the knowledge of and feelingsassociated with cognitive disorders, as well as attitude towards prevention. Indirect experiences were linked toincreased awareness and knowledge, but also uncertainty about risk factors and possibility of prevention. Distinctfear and concerns, particularly over one’s own cognition/risk, and high motivation towards engaging in preventionand participating in a prevention trial were also identified in connection to this theme.
Biobanks are not new. However, the
scope of their application is growing, especially in genomics.... more Biobanks are not new. However, the scope of their application is growing, especially in genomics. Biobanks are also currently being reorganized to enable more genomic samples to be made available for different types of studies. Some future uses of the biobanks cannot be anticipated. These developments conflict with requirements for provision of informed consent at the moment of recruitment for studies. A procedure known as Dynamic Consent (DC) has thus been proposed that, based on information and communication technologies (ICT), should allow participants to consent in real time to projects in which their samples and data may be of interest. In addition, DC would empower participants through ongoing access to information and communication and direct consultation. As such, DC aligns itself with other ICT projects in claiming to be a democratic tool. We critique these claims and highlight their adverse impacts in order to examine the ethical and political consequences of transforming research participants into ICT users.
Objectives: To explore older adults' reasons for participating in a multinational eHealth prevent... more Objectives: To explore older adults' reasons for participating in a multinational eHealth prevention trial, and compare motivations between countries. Design: Cross-sectional mixed methods research using quantitative and qualitative approaches (the ACCEPT-HATICE study). Setting and Participants: Substudy conducted during the recruitment phase of an 18-month RCT testing the efficacy of an eHealth intervention for self-management of risk factors for cardiovascular disease (CVD) and cognitive decline in older adults in Finland, France, and the Netherlands. Participants were 343 N. Coley, A. Rosenberg, and T. van Middelaar contributed equally to the study. The authors declare no conflicts of interest.
Transversal: International Journal for the Historiography of Science, 2018
The term " genetic load " first emerged in a paper written in 1950 by the geneticist H. Muller. I... more The term " genetic load " first emerged in a paper written in 1950 by the geneticist H. Muller. It is a mathematical model based on biological, social, political and ethical arguments describing the dramatic accumulation of disadvantageous mutations in human populations that will occur in modern societies if eugenic measures are not taken. The model describes how the combined actions of medical and social progress will supposedly impede natural selection and make genes of inferior quality likely to spread across populations – a process which in fine loads their progress. Genetic load is based on optimal fitness and emerges from a " typo-logical view " of evolution. This model of evolution had previously, however, been invalidated by Robert Wright and Theodosius Dobzhansky who, as early as 1946, showed that polymor-phism was the rule in natural populations. The blooming and persistence of the concept of genetic load, after its theoretical basis had already expired, are a historical puzzle. This persistence reveals the intricacy of science and policy-making in eugenic matters. The Canguil-hemian concept of 'scientific ideology' (1988) is used along with the concept of 'immutable mobile' (Latour 1986) and compared with the concept of 'co-production' (Jasanoff 1998), to provide complementary perspectives on this complex phenomenon.
Genomic technologies are developing at a time when greater public involvement in research and cli... more Genomic technologies are developing at a time when greater public involvement in research and clinical governance is sought. To this end, empirical bioethics studies, although conceptualized as academic endeavors, may draw on the inclusion of laypeople to justify informing policy. Doing so, they face similar concerns as those addressed to public consultations which cannot be termed democratic a priori and may reinforce the authority of experts. We reflect on these concerns in the process of analyzing the results of a qualitative analysis of eight focus groups (64 participants) held in France during 2010–2012, designed to understand laypeople’s views of the ethical debates surrounding genomic medicine. We examine how the notions of “lay” and “expert” play in the framework of the study and how participants situate themselves along this divide. This understanding of the social context in which the publics are situated enables a more reflexive and accurate ethical analysis.
Le terme de biobanque désigne une collection d'échantillons biologiques associés à des données pe... more Le terme de biobanque désigne une collection d'échantillons biologiques associés à des données personnelles, destinée à servir la recherche scienti-fique. Les pratiques de recueil et de conservation du matériel biologique sont en constante évolution. Elles s'adaptent à la fois aux contextes changeants des institutions scientifiques, aux innovations d'ordre technologique et à l'émergence de nouvelles formes d'organisations. Ces adaptations doivent aussi permettre de valoriser les collections en multipliant les usages possibles des ressources biologiques et leur réutilisation future. Les orientations favorisant le développement des biobanques sur le long terme posent cependant problème du point de vue de l'éthique de la recherche biomédicale. Parce que nul n'est en mesure de prédire pour quelle étude spécifique les échantillons et données recueillis au sein des biobanques serviront précisément dans l'avenir, les éventuels participants des « nouvelles biobanques » se trouvent dans l'impossibilité de consentir à des recherches dont on ne peut anticiper ni la nature, ni la finalité. Les incer-titudes relatives aux directions, méthodes et enjeux de la recherche à venir empêchent de proposer une procédure de « consentement éclairé » adap-tée au présent.
Résumé (en français) :
Pour des raisons qui tiennent autant aux pratiques d’intervention sur les ... more Résumé (en français) : Pour des raisons qui tiennent autant aux pratiques d’intervention sur les corps des participants à la recherche, qu’aux cadres conceptuels historiquement constitués dans l’éthique biomédicale, la personne est au centre de la l’éthique de la recherche depuis les origines de la discipline. Pourtant l’émergence de nouvelles pratiques, notamment en génomique humaine, nous invite aujourd’hui à envisager les demandes de protection, d’autonomie et de respect à un autre niveau : celui du groupe humain. Il s’agit par conséquent de préciser en quoi le « groupe humain » pourrait constituer un sujet pertinent de l’éthique de la recherche en génomique puis de nous demander si cette proposition est légitime, faisable et désirable. Abstract (en english) : For reasons that relate as much to interventional practices as to the conceptual frameworks historically embodied in biomedical ethics, the person has been at the center of the research ethics since the origins of discipline. Yet the emergence of new practices, especially in human genomics, invites us to consider the demands of protection, autonomy and respect on another level: that of the human group. It is therefore necessary to clarify how the "human group" could be a relevant topic in the ethics of genomics research and then ask if this proposal is legitimate, feasible and desirable.
As the demand for genetic analysis is increasing in the health care system, the extension of diag... more As the demand for genetic analysis is increasing in the health care system, the extension of diagnostic tests for genetic disorders is urgently needed. The majority of genetic diseases are molecularly and clinically highly heterogeneous and until recently, the available techniques lacked the required capacity to test several genes in parallel. Next generation sequencing technologies provide a unique opportunity to develop new diagnostic tools for heterogeneous genetic diseases. But their clinical use raises major and previously unreleased issues which need to be brought into sharp focus. The general problem could be summarized as follows: the rapid penetration of systematic technologies into genetic medical departments blurs established frontiers between research and clinics. A huge amount of personal medical data will therefore be produced, including a large part of results irrelevant to any particular clinical problem but which may be of importance to the patient in other ways or in the future. Our present inability to interpret most of the data requires careful ethical consideration but questions of personal data storage, eventual updating and possibilities to re-contact patients and families are also involved and require the development of appropriate rules or guidelines prior to clinical implementation.
High throughput genetic technologies offer the opportunity to gain precision in the diagnosis of ... more High throughput genetic technologies offer the opportunity to gain precision in the diagnosis of numerous diseases and to better understand their molecular basis. However they bring new practical and ethical challenges, some of which are foreseeable and therefore amenable to the timely adoption of strategies to ensure that they are introduced and used in a just and beneficial manner. One way of foreseeing these challenges is to examine technologies that have already been transferred from research to the clinical setting in order to identify the ethical issues and develop strategies to move forward in an ethical way. One such model for new genetic technologies is Array Comparative Genomic Hybridization (aCGH), which has been gradually adopted in recent years as a standard technique in clinical genetics. CGH challenging current clinical practice regarding the detection and diagnosis of human chromosome abnormalities in intellectual disability (ID) and congenital malformations in children. Experience with aCGH has shown that it delivers an unprecedented volume of information for patients, counsellors, and health care providers but it also raises specific ethical challenges which can serve as signposts for potential issues with future, even more detailed, genetic technologies. These issues are described and illustrated through case histories, and their consequences for the patient-clinician relationship in genetic consultation are discussed. The consequences of employing this technology, as compared to the more traditional genetic diagnostic methods used in cases of intellectual disability are categorised into issues linked to 1) the vulnerable nature of patients who are mostly children, mentally retarded people or "future parents"; 2) the way in which information is controlled at each stage of the process, as a function of its potential relevance to the clinical condition being diagnosed, 3) the information related to conditions other than ID or "incidental findings" that become the rule with high throughput technologies. The issues highlighted by the clinical scenarios discussed here can be expected to occur with even greater frequency in the future as whole exome and whole genome sequencing are introduced. Building on our experience with the transfer and adoption of aCGH into clinical genetics, we have developed a grid of points to be considered when translating such technologies from research to clinic.
Background Interdisciplinary research and teaching often present similar challenges to investigat... more Background Interdisciplinary research and teaching often present similar challenges to investigators and teachers in higher education settings. Capturing and harnessing disciplinary knowledge from different fields to strengthen the process is desirable. However, in practice, this may be difficult to achieve. In this paper we set out a methodology developed in both research and teaching settings which has successfully brought researchers and participants from different disciplinary backgrounds together to work within a life course framework.
L'épigénétique est une branche de la biologie qui ne bénéficie pas (encore) d’une définition préc... more L'épigénétique est une branche de la biologie qui ne bénéficie pas (encore) d’une définition précise et stable toutefois elle est considérée comme un processus biologique qui vient compléter la génétique et s’inscrit dans sa continuité. Les informations produites par ces deux sciences sont des informations de santé, sensibles comportant des enjeux normatifs particuliers. Il serait aisé de déduire de la familiarité entre information génétique et information épigénétique que celles-ci posent des enjeux normatifs similaires et qu’il convient, par conséquent, de les encadrer de la même manière. Mais la pertinence de ce rapprochement, au niveau juridique, mérite d’être soumise à une analyse approfondie, d’autant plus que l’information génétique est encadrée rigoureusement par le droit français. Nous procéderons donc en deux temps en distinguant d’abord les caractères de l’information épigénétique puis en nous demandant à quel régime il s’avère légitime de la soumettre. Ce travail sera l’occasion de nous appuyer sur des sources diversifiées (scientifiques, historiques et bioéthiques) afin de documenter notre réflexion concernant les enjeux normatifs de ce qui se présente comme un « nouvel » objet de droit.
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Methods:Semi-structured interviews were conducted among the participants of a multinational randomisedcontrolled trial testing the efficacy of a lifestyle-based eHealth intervention in preventing cardiovascular disease orcognitive decline in community dwellers aged 65+.
Participants were probed on their reasons for participation inthe trial and their views on general health, cardiovascular disease, ageing, and prevention. The subset of datafocusing on cognitive disorders (15 interviewees; all in Finland) was considered for this study. Data were analysedusing content analysis.Results:Participants’knowledge of the cause and risk factors of cognitive disorders and prevention was limitedand superficial, and a need for up-to-date, reliable, and practical information and advice was expressed. Cognitivedisorders evoked fear and concern, and feelings of hopelessness and misery were frequently expressed, indicating astigma. Strong heredity of cognitive disorders was a commonly held belief, and opinions on the possibility ofprevention were doubtful, particularly in relation to primary prevention. Family history and/or indirect experiencesof cognitive disorders was a recurrent theme and it showed to be linked to both the knowledge of and feelingsassociated with cognitive disorders, as well as attitude towards prevention. Indirect experiences were linked toincreased awareness and knowledge, but also uncertainty about risk factors and possibility of prevention. Distinctfear and concerns, particularly over one’s own cognition/risk, and high motivation towards engaging in preventionand participating in a prevention trial were also identified in connection to this theme.
scope of their application is growing, especially in genomics. Biobanks are also currently being reorganized to enable more genomic
samples to be made available for
different types of studies. Some
future uses of the biobanks cannot be anticipated.
These developments conflict with requirements for
provision of informed consent at the moment of
recruitment for studies. A procedure known as
Dynamic Consent (DC) has thus been proposed that,
based on information and communication technologies (ICT), should allow participants to consent in real
time to projects in which their samples and data may
be of interest.
In addition, DC would empower participants through
ongoing access to information and communication and
direct consultation. As such, DC aligns itself with other
ICT projects in claiming to be a democratic tool. We critique these claims and highlight their adverse impacts
in order to examine the ethical and political consequences of transforming research participants into
ICT users.
Pour des raisons qui tiennent autant aux pratiques d’intervention sur les corps des participants à la recherche, qu’aux cadres conceptuels historiquement constitués dans l’éthique biomédicale, la personne est au centre de la l’éthique de la recherche depuis les origines de la discipline. Pourtant l’émergence de nouvelles pratiques, notamment en génomique humaine, nous invite aujourd’hui à envisager les demandes de protection, d’autonomie et de respect à un autre niveau : celui du groupe humain. Il s’agit par conséquent de préciser en quoi le « groupe humain » pourrait constituer un sujet pertinent de l’éthique de la recherche en génomique puis de nous demander si cette proposition est légitime, faisable et désirable.
Abstract (en english) :
For reasons that relate as much to interventional practices as to the conceptual frameworks historically embodied in biomedical ethics, the person has been at the center of the research ethics since the origins of discipline. Yet the emergence of new practices, especially in human genomics, invites us to consider the demands of protection, autonomy and respect on another level: that of the human group. It is therefore necessary to clarify how the "human group" could be a relevant topic in the ethics of genomics research and then ask if this proposal is legitimate, feasible and desirable.
in both research and teaching settings which has successfully brought researchers and participants from different disciplinary backgrounds together to work within a life course framework.
Methods:Semi-structured interviews were conducted among the participants of a multinational randomisedcontrolled trial testing the efficacy of a lifestyle-based eHealth intervention in preventing cardiovascular disease orcognitive decline in community dwellers aged 65+.
Participants were probed on their reasons for participation inthe trial and their views on general health, cardiovascular disease, ageing, and prevention. The subset of datafocusing on cognitive disorders (15 interviewees; all in Finland) was considered for this study. Data were analysedusing content analysis.Results:Participants’knowledge of the cause and risk factors of cognitive disorders and prevention was limitedand superficial, and a need for up-to-date, reliable, and practical information and advice was expressed. Cognitivedisorders evoked fear and concern, and feelings of hopelessness and misery were frequently expressed, indicating astigma. Strong heredity of cognitive disorders was a commonly held belief, and opinions on the possibility ofprevention were doubtful, particularly in relation to primary prevention. Family history and/or indirect experiencesof cognitive disorders was a recurrent theme and it showed to be linked to both the knowledge of and feelingsassociated with cognitive disorders, as well as attitude towards prevention. Indirect experiences were linked toincreased awareness and knowledge, but also uncertainty about risk factors and possibility of prevention. Distinctfear and concerns, particularly over one’s own cognition/risk, and high motivation towards engaging in preventionand participating in a prevention trial were also identified in connection to this theme.
scope of their application is growing, especially in genomics. Biobanks are also currently being reorganized to enable more genomic
samples to be made available for
different types of studies. Some
future uses of the biobanks cannot be anticipated.
These developments conflict with requirements for
provision of informed consent at the moment of
recruitment for studies. A procedure known as
Dynamic Consent (DC) has thus been proposed that,
based on information and communication technologies (ICT), should allow participants to consent in real
time to projects in which their samples and data may
be of interest.
In addition, DC would empower participants through
ongoing access to information and communication and
direct consultation. As such, DC aligns itself with other
ICT projects in claiming to be a democratic tool. We critique these claims and highlight their adverse impacts
in order to examine the ethical and political consequences of transforming research participants into
ICT users.
Pour des raisons qui tiennent autant aux pratiques d’intervention sur les corps des participants à la recherche, qu’aux cadres conceptuels historiquement constitués dans l’éthique biomédicale, la personne est au centre de la l’éthique de la recherche depuis les origines de la discipline. Pourtant l’émergence de nouvelles pratiques, notamment en génomique humaine, nous invite aujourd’hui à envisager les demandes de protection, d’autonomie et de respect à un autre niveau : celui du groupe humain. Il s’agit par conséquent de préciser en quoi le « groupe humain » pourrait constituer un sujet pertinent de l’éthique de la recherche en génomique puis de nous demander si cette proposition est légitime, faisable et désirable.
Abstract (en english) :
For reasons that relate as much to interventional practices as to the conceptual frameworks historically embodied in biomedical ethics, the person has been at the center of the research ethics since the origins of discipline. Yet the emergence of new practices, especially in human genomics, invites us to consider the demands of protection, autonomy and respect on another level: that of the human group. It is therefore necessary to clarify how the "human group" could be a relevant topic in the ethics of genomics research and then ask if this proposal is legitimate, feasible and desirable.
in both research and teaching settings which has successfully brought researchers and participants from different disciplinary backgrounds together to work within a life course framework.