Recall-by-genotype (RbG) strategies are bottom-up approaches to conducting targeted follow-up studies or substudies with eligible participants. They use specific genetic information derived from pre-vious genome-wide association studies or whole-genome sequenc-ing enabled by next-generation sequencing. Genetic information may be partially disclosed when certain partici-pants are recalled for RbG studies, and information on the study design and eligibility criteria is provided. These distinguishing pecu-liarities of RbG approaches have ethical, legal, and social/societal implications (ELSI). In this thesis, we present and discuss the results of research on the ELSI aspects of RbG approaches and within the Cooperative Health Research in South Tyrol (CHRIS) studies (RbG1, RbG2) on genetic risk factors of Parkinson's disease (PD). We used various qualitative and quantitative methods, including in-terviews, surveys and focus group discussions (FGD). Thereby, we sought to address the need for qualitative data from diverse stake-holders, including critical voices in the CHRIS research ecosystem, such as participants, researchers, ethics board members, and study assistants, to develop effective recall and communication strategies through a collaborative approach refining the CHRIS RbG policy. The exploration began with a literature review revealing the explicit and implicit ELSI of RbG study designs. It uncovered a consensus on the significant ethical challenges RbG poses while highlighting the diversity in consent models and Return of Research Results (RoRR) policies employed in different research and biobanking con-texts. Then, a secondary analysis of interviews and surveys from a mixed-methods study with CHRIS RbG participants from the RbG pilot study (RbG1) followed. Alongside the second follow-up RbG study (RbG2) study, we then designed a survey, informed by the results of RbG1, to gather further perspectives on their experience of an RbG study, and other fundamental considerations pertinent to en-gagement and communication in RbG studies. Then, to explore the operational and practical aspects of RbG studies, we identified the relevant stakeholders who shape and decide on RbG study designs. Consequently, we designed and conducted FGD to examine stake-holder perspectives on the RbG study design, communication, and disclosure strategies. Further, we collected feedback and views from CHRIS study personnel and coordinators who accompanied the RbG1 and 2 study process. Finally, we conducted a large-scale sur-vey with CHRIS participants to strengthen the conclusions of previ-ous empirical research. This collaborative approach aims to refine the CHRIS RbG policy, develop effective recruitment and commu-nication strategies, and promote transparency. The study's findings underscore the value of personalised engage-ment and sensitive communication through tailored disclosure and communication strategies. Stakeholder views on ELSI in RbG stud-ies reveal diversity, highlighting the need for adaptable approaches aligned with study contexts. Overall, the results suggest that partici-pants are highly interested in receiving information on carrier status on the genetic variations investigated by the RbG study, but views and motivations were heterogeneous. This adds to the complexity of integrating these insights into communication strategies and disclo-sure policies. More research is necessary to investigate the effects of various disclosure strategies, the impact of disclosure on awareness, and how framing affects participants' reception of study-specific information.

A major health concern for subjects with diabetes is weaker bones and increased fracture risk. Current clinical assessment of the bone strength is performed by measuring Bone Mineral Density (BMD), where low BMD-values are associated with an increased risk of fracture. However, subjects with Type 2 Diabetes (T2D) have been shown to have normal or higher BMD-levels compared to healthy controls, which does not reflect the recognized bone fragility among diabetics. Thus, there is need for more research about diabetes-related bone fragility to find other factors of impaired bone health. One potential biomarker that has recently been studied is Bone Marrow Fat (BMF). The data in this project consisted of whole-body water-fat Magnetic Resonance Imaging (MRI) volumes from the UK Biobank Imaging study (UKBB). Each subject in this data has a water volume and a fat volume, allowing for a quantitative assessment of water and fat content in the body. To analyze and perform quantitative measurements of the bones specifically, a Deep Learning (DL) model was trained, validated, and tested for performing fully automated and objective skeleton segmentation, where six different bones were segmented: spine, femur, pelvis, scapula, clavicle and humerus. The model was trained and validated on 120 subjects with 6-fold cross-validation and tested on eight subjects. All ground-truth segmentations of the training and test data were generated using two semi-automatic pipelines. The model was evaluated for each bone separately as well as the overall skeleton segmentation and achieved varying accuracy, performing better on larger bones than on smaller ones. The final trained model was applied on a larger dataset of 9562 subjects (16% type 2 diabetics) and the BMF, as well as bone marrow volume (BMV) and cortical bone volume (CBV), were measured in the segmented bones of each subject. The results of the quantified biomarkers were compared between T2D and healthy subjects. The comparison revealed possible differences between healthy and diabetic subjects, suggesting a potential for new findings related to diabetes and associated bone fragility.

Die medizinischen Wissenschaften haben sich in den letzten Jahren in riesigen Schritten entwickelt. Wichtige Meilensteine waren dabei sicherlich die Entwicklung von DNA-Sequenziermaschinen und die Entschlüsselung des menschlichen Genoms 2003.  Durch die Nutzung moderner Großrechner und des Internets ist es zudem möglich geworden immer größere Datenmassen immer größerer Probandenzahlen miteinander zu verknüpfen. Die Daten können z.B. beinhalten Informationen über die DNA, Untersuchungsergebnisse oder Lebensstildaten. Gespeichert werden diese Daten sowie Gewebe vielfältiger Art in den sogenannten Biobanken. Die Forschung die sich ihrer bedient nennt man Biobank-Forschung oder Biobanking. Ziel des Biobanking ist es Korrelationen zu ermitteln, die wiederum Hinweise auf Krankheitsentstehung geben sollen. In einem weiteren Schritt erhofft man sich Möglichkeiten der Prävention, Gesundheitsförderung, Früherkennung und Therapie zu erarbeiten.  Die vorliegende Arbeit ist im Rahmen des Tiss.EU-Projektes entstanden, welches sich zum Ziel gesetzt hatte unter anderem die innerhalb der EU und der Schweiz bestehenden ethischen und juristischen Regularien zur Biobanken zu sammeln, zu vergleichen und zu diskutieren, um schließlich, im Sinne der  zunehmenden Globalisierung von Forschung, eine Empfehlung für einen gemeinsamen Umgang mit diesen Fragestellungen zu abzugeben.   Speziell beschäftigt sich die vorliegende Arbeit damit, ob eine moralische Verpflichtung der das Biobanking nutzenden Forschenden besteht, wenn im Rahmen ihrer Forschung für den Probanden (lebens-)relevante Befunde anfallen. Ist der Forschende verpflichtet diese Information an den Gewebespender zurückzumelden? Geprüft werden sollte, ob die bestehenden ethischen und juristischen Regularien diese Fragestellung bereits ausreichend beantworten und ob man sich zum Umgang mit dieser Fragestellung innerhalb der am Tiss.EU-Projekt beteiligten Länder einig ist.  Ergebnisse: Bzgl. der Begrifflichkeiten komme ich zu dem Schluss, dass vielmehr der neue Typus von Forschung, das Biobanking oder die Biobank-Forschung, im Fokus bioethischer Diskussionen stehen sollte, als die Institution Biobank, die man überraschenderweise in  verschiedenen Ländern anders definiert.  Zudem fällt auf, dass in der Literatur häufig der Begriff Zufallsbefund für individuell bedeutsame Befunde verwendet wird. Dieser Begriff trifft den Charakter der Befunde in den meisten Fällen nicht. Entsprechend empfiehlt es sich von individuell bedeutsamen oder relevanten Befunden zu sprechen.  Bzgl. der ethischen und juristischen Regularien komme ich zu dem Schluss, dass sich die Biobankforschung von der durch die Deklaration von Helsinki ethisch kodifizierte Forschung wesentlich unterscheidet, so dass tatsächlich eine ethisch und juristisch nicht ausreichend bearbeitete Problemlage besteht.  Innerhalb der EU und der Schweiz ist man sich weder bei der Vorstellung was eine Biobank ausmacht, noch beim Umgang mit individuellen Befunden einig. Von gefestigten Regularien kann also nicht ausgegangen werden.  Weiterhin fällt auf, dass der ethische Diskurs den ökonomischen Kontext der Biobanken zu wenig - und damit unzureichend - berücksichtigt.  Bzgl. der Wiedergabe individueller Befunde komme ich zu folgendem Ergebnis:  - wenn für die Biobankforschung medizinische Untersuchungen erfolgen und hierbei pathologische Befunde anfallen besteht eine (ärztliche) Mitteilungspflicht.  Auf der Ebene molekulargenetischer Forschung müssen medizinisch relevante Befunde, sofern sie valide sind, ebenfalls zurück gemeldet werden.  Werden die Untersuchungen von nicht-Medizinern durchgeführt, sollte man sich bei medizinischen Untersuchungen trotzdem an den Regeln der medizinischen Ethik orientieren. Der Proband muss im Sinne des informed consent aufgeklärt werden, welche Art individuell relevanter Befunde anfallen können und seine Einstellung zu einer mölichen Rückmeldung von Befunden muss ermittelt und dokumentiert werden. Er kann von seinem Recht auf Nichtwissen Gebrauch machen.

Background: Community acquired pneumonia (CAP) is a high incidence disease resulting in about 260,000 hospital admissions per year in Germany, more than myocardial infarction or stroke. Worldwide, CAP is the most frequent infectious disease with high lethality ranging from 1.2 % in those 20–29 years old to over 10 % in patients older than 70 years, even in industrial nations. CAP poses numerous medical challenges, which the PROGRESS (Pneumonia Research Network on Genetic Resistance and Susceptibility for the Evolution of Severe Sepsis) network aims to tackle: Operationalization of disease severity throughout the course of disease, outcome prediction for hospitalized patients and prediction of transitions from uncomplicated CAP to severe CAP, and finally, to CAP with sepsis and organ failure as a life-threatening condition. It is a major aim of PROGRESS to understand and predict patient heterogeneity regarding outcome in the hospital and to develop novel treatment concepts. Methods: PROGRESS was designed as a clinical, observational, multi-center study of patients with CAP requiring hospitalization. More than 1600 patients selected for low burden of co-morbidities have been enrolled, aiming at a total of 3000. Course of disease, along with therapy, was closely monitored by daily assessments and long-term follow-up. Daily blood samples allow in depth molecular-genetic characterization of patients. We established a well-organized workflow for sample logistics and a comprehensive data management system to collect and manage data from more than 50 study centers in Germany and Austria. Samples are stored in a central biobank and clinical data are stored in a central data base which also integrates all data from molecular assessments. Discussion: With the PROGRESS study, we established a comprehensive data base of high quality clinical and molecular data allowing investigation of pressing research questions regarding CAP. In-depth molecular characterization will contribute to the discovery of disease mechanisms and establishment of diagnostic and predictive biomarkers. A strength of PROGRESS is the focus on younger patients with low burden of co-morbidities, allowing a more direct look at host biology with less confounding. As a resulting limitation, insights from PROGRESS will require validation in representative patient cohorts to assess clinical utility. Trial registration: The PROGRESS study was retrospectively registered on May 24th, 2016 with ClinicalTrials.gov: NCT02782013

Les travaux exposés dans cette thèse sont le reflet d'années d'efforts consacrées à la mise en place de diagnostics de qualités des hépatites virales au Laos au sein du Centre d'infectiologie Lao Christophe Mérieux (CILM), dont je suis aujourd'hui la directrice scientifique. En introduction, nous avons tenu à présenter les caractéristiques socio-économiques du Laos et ses défis sanitaires pour atteindre les Millennium Development Goals, qui guident les politiques publiques de pays en situation de développement. Nous avons jugé important de souligner ces points tout comme la présentation du CILM pour faire comprendre au lecteur le contexte de réalisation de ce travail. C'est grâce à une bio-banque riche de plus de 7,000 échantillons biologiques de patients infectés par les virus des hépatites virales B et C, que nous avons pu poser la question de recherche clé de cette thèse : Comment évoluent les hépatites virales chez les patients reçus depuis une dizaine d'années au CILM ? Cette question en a fait émerger une deuxième concernant la qualité du diagnostic dans les centres de soins à Vientiane. Ainsi, nous nous sommes intéressés aux kits de diagnostic rapide de l'hépatite B utilisés dans les structures de soins de Vientiane, comparés au standard utilisé dans notre laboratoire. Ces travaux, qui ont donné lieu à la publication de 2 articles (un troisième article a été soumis), jouent un rôle capital pour le pays, car ils donnent des axes d'intervention aux autorités de santé publique laotiennes pour combattre ce fléau. Nous avons choisi une présentation dichotomique des hépatites virales avec une partie dédiée aux hépatites B et une partie dédiée à l'hépatite C en raison de l'émergence d'une troisième question de recherche plus fondamentale. Il s'agit du risque de développement du cancer du foie chez les patients infectés, risque différent suivant que l'on est porteur d'une hépatite B ou d'une C. En effet, les outils diagnostiques pour déterminer la magnitude de ce risque sont peu ou pas accessibles pour les patients au Laos. [...] / The work presented in this thesis reflects many years of effort to devoted the implementation of quality diagnostics of viral hepatitis in Laos at the Centre d'infectiologie Lao Christophe Mérieux (CILM), of which I am now the scientific director. In the introduction, we wanted to present the socio-economic characteristics of Laos and its health challenges in order to achieve the Millennium Development Goals (MDG), which guide public policies in developing countries. We felt it was important to highlight these points as well as the presentation of the CILM to help the readers to understand the context in which this work was carried out. It is thanks to a bio-bank with more than 7,000 biological samples from patients infected with viral hepatitis B and C viruses, that we were able to ask the key research question of this thesis: What is the evolution of patients infected by viral hepatitis B/C who have been follow the viral load at CILM for the past ten years or so? This question raised a second one concerning the quality of diagnosis in health centres in Vientiane. For example, we were interested in the rapid diagnostic kits for hepatitis B used in Vientiane's health facilities, compared to the standard used in our laboratory. This work, which has resulted in the publication of 2 articles (a third article has been submitted), plays a crucial role for the country, as it provides Laotian public health authorities with a focus for action to combat this scourge.

Yes / Widespread generation and analysis of omics data have revolutionized molecular medicine on Earth, yet its power to yield new mechanistic insights and improve occupational health during spaceflight is still to be fully realized in humans. Nevertheless, rapid technological advancements and ever-regular spaceflight programs mean that longitudinal, standardized, and cost-effective collection of human space omics data are firmly within reach. Here, we consider the practicality and scientific return of different sampling methods and omic types in the context of human spaceflight. We also appraise ethical and legal considerations pertinent to omics data derived from European astronauts and spaceflight participants (SFPs). Ultimately, we propose that a routine omics collection program in spaceflight and analog environments presents a golden opportunity. Unlocking this bright future of artificial intelligence (AI)-driven analyses and personalized medicine approaches will require further investigation into best practices, including policy design and standardization of omics data, metadata, and sampling methods. / H.C., R.H., J.B., D.B., S.G., T.E., and N.J.S. are members of the ESA Space Omics Topical Team, funded by the ESA grant/contract 4000131202/20/NL/PG/pt “Space Omics: Towards an integrated ESA/NASA –omics database for spaceflight and ground facilities experiments” awarded to R.H., which was the main funding source for this work. H.C. is also supported by the Horizon Center for Doctoral Training at the University of Nottingham (UKRI grant no. EP/S023305/1). S.G. is supported by the Swedish Research Council VR grant 2020-04864. L.A.R. and M.M. represent the Omics Subgroup of the Japan Society for the Promotion of Science KAKENHI funding group “Living in Space” and are supported by JP15K21745, JP20H03234, and 20F20382. L.A.R. is also supported by the JSPS postdoctoral fellowship P20382. We thank Dr. Sarah Castro-Wallace, the NASA GeneLab Animal AWG, ISSOP, ESA Space Omics Topical Team, ESA Personalized Medicine Topical Team, and Global Alliance for Genomic Health (GA4GH) for useful discussions.

L’étude des polymorphismes et des aspects multifactoriels des déterminants de la santé suscite un engouement majeur envers la recherche populationnelle en génétique et génomique. Cette méthode de recherche requiert cependant la collecte et l’analyse d’un nombre élevé d’échantillons biologiques et de données associées, ce qui stimule le développement des biobanques. Ces biobanques, composées des données personnelles et de santé de milliers de participants, constituent désormais une ressource essentielle permettant l’étude de l’étiologie des maladies complexes et multifactorielles, tout en augmentant la rapidité et la fiabilité des résultats de recherche. Afin d’optimiser l’utilisation de ces ressources, les chercheurs combinent maintenant les informations contenues dans différentes biobanques de manière à créer virtuellement des mégacohortes de sujets. Cependant, tout partage de données à des fins de recherche internationale est dépendant de la possibilité, à la fois légale et éthique, d’utiliser ces données aux fins pressenties. Le droit d’utiliser les données personnelles, médicales et génétiques de participants dans le cadre de recherches internationales est soumis à un ensemble complexe et exhaustif d’exigences légales et éthiques. Cette complexité est exacerbée lorsque les participants sont décédés. Fondée sur une révision de l’interprétation individualiste du concept de consentement éclairé, ainsi qu’une perspective constructiviste des concepts de confiance et d’autonomie, cette thèse se situe au carrefour de la recherche, du droit et de l’éthique, et a pour objectif de proposer un modèle promouvant l’harmonisation éthique et juridique des données aux fins de recherches internationales en génétique. / The study of polymorphisms and multifactorial aspects of health determinants enthuses many researchers with regard to populationnal research in genetics and genomics. The research method accompanying this field of research, however, requires the collection and analysis of a large number of biological samples and associated data, which fosters the development of biobanks. Biobanks, which contain personal and health data of thousands of participants, are therefore an essential resource to study the complex etiology of multifactorial diseases, and increase the speed and reliability of results. To optimize the use of these resources, many researchers now combine information from different biobanks to create “virtual” mega-cohorts of research participants. Thus, any attempt to share the data for international research is dependent on the legal and ethical right to use such data. Irrespective, the right to use the personal, medical and genetic data of participants in the context of international research is subject to complex and comprehensive legal and ethical frameworks. This complexity is exacerbated when research participants are deceased. Based on a review of the individualistic interpretation of the notion of informed consent and a constructivist approach to trust and autonomy, this thesis situates itself at the crossroads of research, law and ethics. It aims to propose a model promoting the legal and ethical harmonization of data for international genetic research.

Submitted by PPG Direito (ppgdir@pucrs.br) on 2018-10-05T12:52:39Z No. of bitstreams: 1 Clarissa_Lopes_ Bellarmino_Tes.pdf: 1858165 bytes, checksum: f3c9f1535f426f30e77001036a4fc860 (MD5) / Approved for entry into archive by Sheila Dias (sheila.dias@pucrs.br) on 2018-10-08T12:22:57Z (GMT) No. of bitstreams: 1 Clarissa_Lopes_ Bellarmino_Tes.pdf: 1858165 bytes, checksum: f3c9f1535f426f30e77001036a4fc860 (MD5) / Made available in DSpace on 2018-10-08T12:34:27Z (GMT). No. of bitstreams: 1 Clarissa_Lopes_ Bellarmino_Tes.pdf: 1858165 bytes, checksum: f3c9f1535f426f30e77001036a4fc860 (MD5) Previous issue date: 2018-08-22 / Scientific research involving human beings, carried out in the biomedical and genetic areas, generates data from activities developed in biobank, among which genetic data, which should be protected not only in the ethical scope, but also in the legal sphere. Genetic data are information related to hereditary characteristics obtained from samples of human biological sources (eg: cells, hair, tissues, blood, bone, tumors and organs, among other materials derived from human body). These samples can be stored, processed and accessed on biobank - nonprofit structure, organized and systematized in universities and research institutions that provides technologies and/or equipment necessary for scientific investigation. The purpose of this study is to verify whether current Brazilian regulation is sufficient or not regarding the ethical-legal protection of human genetic data in biobank activities, considering the rights of the participants, as far as safeguarding their personal data and to sensitive data, fundamentals of genetic identify. Genetic identify understood as the projection of personal identify. In view of this, it is essential to review the national literature in the light of the constitutional principle of human dignity and fundamental rights, such as the right to life, health, intimacy, privacy and the free development of personality. In turn, a review and analysis of current Brazilian legislation, as well as the identification of guidelines, recommendations and international regulations, are constructs that support and contribute to the understanding of the relevance and pertinence of the subject of personal data protection, particularly human genetic data, demanding the legal support from the principles of the democratic State based on the rule of law. Finally, it is concluded that the protection of human genetic data in biobank activities is deserving of specific legislation, which includes measures of coherence in case of violation of the principle of human dignity and of the fundamental rights implied, that guarantees the integrity of the participant of the research and their personal rights, that imposes to the researchers, the participants, the research institutions and universities and the State, the duties and limits of action in relation to human life and health. Therefore, a specific infraconstitutional legislation, effective in the legal and effective protection in its implementation. / Las investigaciones cient?ficas que involucran seres humanos, realizadas en las ?reas biom?dica y gen?tica, generan datos a partir de actividades desarrolladas en biobanco - entre los cuales datos gen?ticos - debiendo los mismos ser protegidos, no s?lo en el ?mbito ?tico, sino tambi?n en el ?mbito jur?dico. Los datos gen?ticos son informaciones sobre las caracter?sticas hereditarias obtenidas de muestras de material biol?gico humano (por ejemplo, c?lulas, pelo, tejidos, sangre, huesos, tumores y ?rganos, entre otros ejemplares derivados del cuerpo humano). Estas muestras pueden ser almacenadas, procesadas y accesadas en biobanco - estructura sin fines de lucro, organizada y sistematizada en universidades e instituciones de investigaci?n que ofrece tecnolog?as y / o recursos necesarios para la investigaci?n cient?fica. El prop?sito de este estudio es verificar si la regulaci?n brasile?a actual es suficiente - o no - cuanto a la protecci?n ?tico-jur?dica de los datos gen?ticos humanos en actividades de biobanco, garantizando los derechos de los participantes, con la salvaguardia de sus datos personales y datos sensibles, fundamentales para la identidad gen?tica. Identidad gen?tica entendida como proyecci?n de la identidad personal. En este prisma, es imprescindible una revisi?n de la literatura nacional, a la luz del principio constitucional de la dignidad humana y de los derechos fundamentales, tales como el derecho a la vida, a la salud, a la intimidad, a la privacidad y al libre desarrollo de la personalidad. Por su parte, una revisi?n y an?lisis de la legislaci?n brasile?a actual, as? como la identificaci?n de directrices, recomendaciones y regulaciones internacionales, son constructos que fundamentan y contribuyen a la comprensi?n de la relevancia y pertenencia de la tem?tica acerca de la protecci?n de datos personales, particularmente datos gen?ticos humanos, lo que exije del Estado Democr?tico de Derecho el debido apoyo legal. Por ?ltimo, se concluye que la protecci?n de los datos gen?ticos humanos en las actividades de biobanco est? merced a una legislaci?n espec?fica, que contemple medidas de cohesi?n para el caso de afrenta al principio de la dignidad humana y de los derechos fundamentales implicados, que garantice la integridad del producto, que participa en la investigaci?n y sus derechos personales, que imponga a los investigadores, a los participantes, a las instituciones de investigaci?n y universidades y al Estado, los deberes y l?mites de actuaci?n en relaci?n con la vida humana y la salud. Por lo tanto, una legislaci?n infraconstitucional espec?fica, eficaz en la protecci?n jur?dica y efectiva en su implementaci?n. / As pesquisas cient?ficas envolvendo seres humanos, realizadas nas ?reas biom?dica e gen?tica, geram dados a partir de atividades desenvolvidas em biobanco, dentre os quais dados gen?ticos, devendo os mesmos serem protegidos, n?o apenas no ?mbito ?tico, como tamb?m no ?mbito jur?dico. Dados gen?ticos s?o informa??es referentes ?s caracter?sticas heredit?rias obtidas de amostras de material biol?gico humano (por exemplo: c?lulas, cabelo, tecidos, sangue, ossos, tumores e ?rg?os, entre outros exemplares derivados do corpo humano). Essas amostras podem ser armazenadas, processadas e acessadas em biobanco - estrutura sem fins lucrativos, organizada e sistematizada em universidades e institui??es de pesquisa que oferece tecnologias e/ou equipamentos necess?rios ? pesquisa cient?fica. O prop?sito deste estudo ? verificar se a regula??o brasileira atual ? suficiente ou n?o quanto ? prote??o ?tico-jur?dica dos dados gen?ticos humanos em atividades de biobanco, considerando os direitos dos participantes, na medida da salvaguarda dos seus dados pessoais e dados sens?veis, fundamentos da identidade gen?tica. Identidade gen?tica entendida como proje??o da identidade pessoal. Sob este prisma, ? imprescind?vel uma revis?o da literatura nacional e internacional, ? luz de princ?pio constitucional da dignidade humana e dos direitos fundamentais, tais como o direito ? vida, ? sa?de, ? intimidade, ? privacidade e ao livre desenvolvimento da personalidade. Por sua vez, uma revis?o e an?lise da legisla??o brasileira atual, assim como a identifica??o de diretrizes, recomenda??es e regulamenta??es internacionais, s?o construtos que fundamentam e contribuem para a compreens?o da relev?ncia e pertin?ncia da tem?tica da prote??o de dados pessoais, particularmente dados gen?ticos humanos, exigindo do Estado Democr?tico de Direito o devido respaldo legal. Por fim, conclui-se que a prote??o dos dados gen?ticos humanos em atividades de biobanco est? a merecer uma legisla??o espec?fica, que contemple medidas de coers?o para o caso de afronta ao princ?pio da dignidade humana e dos direitos fundamentais implicados, que garanta a integridade do participante da pesquisa e seus direitos pessoais, que imponha aos pesquisadores, aos participantes, ?s institui??es de pesquisa e universidades e ao Estado, os deveres e limites de atua??o em rela??o vida humana e ? sa?de. Portanto, uma legisla??o infraconstitucional espec?fica, eficaz na prote??o jur?dica e efetiva na sua implementa??o.

Dans le champ de la recherche en génomique, comme dans d'autres domaines très informatisés, les bases de données et les biobanques sont organisées en infrastructures. Ce nouveau modèle organisationnel doit permettre de soutenir l'effort technique et collaboratif requis pour traiter des Big Data, c'est-à-dire des jeux de données trop volumineux et complexes pour être traités en utilisant les méthodes classiques. L'établissement de ces nouveaux environnements constitue un véritable défi technique et philosophique. Il requiert, pour être opérationnel, des cadres réglementaires adaptés, ouverts à la fois à l'internationalisation et à des perspectives de long terme, mais certains de ces changements ne sont pas compatibles avec les procédures éthiques courantes, notamment la procédure de consentement éclairé. L'éthique de la recherche en génomique doit donc être repensée. Faut-il puiser dans la technique les nouvelles solutions de gouvernance de la recherche ? Ou bien est-il plus juste de répondre à ces évolutions en analysant les situations de tension morale suscitées par de nouveaux développements et en décidant de les traiter en fonction de ce à quoi nous tenons collectivement ? L'enjeu de ce travail, qui relève d'une approche pragmatiste, consiste à cultiver une attitude réflexive à propos des changements en cours dans la recherche en génomique. Cette tâche suppose d'expliciter le rôle des biobanques et des bases de données dans la production, la validation et la publication de la recherche génomique. Il est également nécessaire de rendre compte des tensions auxquelles le développement de ces dispositifs donne lieu lorsqu'ils sont incompatibles avec les procédures actuelles. On peut alors examiner si les dispositifs tels qu'ils sont conçus sont désirables dans les contextes où ils sont développés, soulignant ainsi la dimension politique de l'éthique de la recherche. Cette thèse repose sur l'analyse de situations concrètes issues de projets de recherche dans lesquels nous avons été impliquée. Nous utilisons aussi plusieurs disciplines étudiant la science telle qu'elle se fait (philosophie, anthropologie, sociologie et histoire). Au cours de cet examen, l'idée régulatrice de personne-membre est proposée, pour favoriser la prise en compte des appartenances sociales et politiques du sujet de l'éthique de la recherche en génomique. / In genomic research, as in other highly computerised scientific fields, databases and biobanks are today (re-)organised into infrastructures. This new organisational model should support the technical and collaborative effort needed to deal with Big Data, that is, data sets that are too large and too complex to be treated with conventional methods. Establishing these new environments is an actual technical challenge that requires, in order to be operational, appropriate regulatory frameworks that are both open to internationalisation and long-term prospects. But some of these changes are not consistent with current ethics procedures, including the informed consent process. The ethics of genomics research must therefore be reconsidered by asking whether it is in technology that we must draw new solutions for the governance of research or whether we must respond to these evolutions by proposing a political treatment to clarify what we value collectively. This work, which is based on a pragmatist approach, intends to cultivate a reflexive attitude on the changes being made in genomic research by describing situations of moral tension. This requires elucidating the role of biobanks and databases in the production, validation and publication of genomic research; accounting for the conflicts of values to which the development of these devices can give rise when they are incompatible with the current procedures and thus to examine whether the devices as conceived are desirable in the contexts where they are developed. This thesis is based on the analysis of concrete situations, resulting from research projects in which we have been involved or from studies of science in practices (philosophy, anthropology, sociology and history). During this examination, the regulatory idea of a person-member is proposed, in order to favor the consideration of the social and political affiliations of the subject of ethics to research in genomics.

Between 2002 and 2006, an ongoing conflict surrounding Umeå-based biotech company UmanGenomics and the Medical Biobank at Umeå University played out in the media. The conflict involved researchers, business leaders, politicians, the university board, journalists and the general public. The purpose of this dissertation is to examine the public media-mediated conflict surrounding UmanGenomics and Medical Biobank from a media and communication sciences perspective and thereby contribute to research into Science Journalism and media-mediated science-related conflicts. The questions examined by the study are as follows: how was the conflict portrayed in local and national newspapers, respectively, and how did these portrayals change over time? Were there any similarities, or was there any relationship between the media-mediated conflict and the »internal« debate, which are able to be traced via the events registered in Umeå University’s journal of daily events? Which parties elected to involve themselves in the conflict and did their descriptions of what happened differ? Were there any particular aspects of the conflict that were portrayed by the media as »failures«, and if so, what was it that was considered a failure? In total, 654 texts from the local and national media were analysed, as well as the university’s journal. The study has largely been carried out using quantitative content analysis, supplemented by general argumentation analysis. The study’s theoretical bases are taken from research on the relationship between science and the media, from rhetoric research, but also from Science and Technology Studies (STS) in a broader sense. This dissertation shows that the conflict was reported on differently depending on the newspaper’s proximity to the conflict itself, and on which arena the conflict was played out in. This also demonstrates that the conflict, most especially as played out in local news coverage, can be divided into different phases. While the media reports include many instances of those involved laying blame at each other’s feet, it is the market and the conflict that are considered to have been the primary factors in UmanGenomics’ ultimate demise. This study presents five suggestions as to what lessons can be learnt from this media-mediated conflict. The first is that the conflict provides an example of mutual exploitation: the media exploited the events surrounding the conflict in order to produce newsworthy, sensational and descriptive stories. Whereas within the university, the main figures embroiled in the conflict used the media as a front to either introduce or support their own points of view. The second is that the conflict should have given the »university world« an inducement to discuss media strategies and its transparency policies in greater depth. The third suggestion is that the media’s ability to make citizens’ opinions on science-related questions heard is problematic. Fourthly, many of those involved used the conflict to try to position themselves in relation to a rival counterpart, rather than to try to provide the general public with a clear and accurate picture of the conflict. Finally, it is suggested that the use of the »goldmine« metaphor, used to refer to both UmanGenomics and Medical Biobank, may have played a part in limiting media debate on the issue within the confines of a certain type of rhetoric.