Human Genetic Databases: Ethical, Legal and Social Issues: Preface to the Special Issue of Trames
Notice bibliographique
Résumé
1. The boom of DNA banking The last few years have witnessed an important expansion of DNA banking all over the world. The collections of DNA samples vary in design and purpose (Cambon-Thomsen et al; 2003 Palmour 2003), occurring in a variety of circumstances from research to diagnostic and therapeutic activities, as well as in forensic services in identifying individuals through DNA. Most of these DNA banks are of small size, mostly set up in order to enable research in the context of disease studies. The very recent tendency to build up extensive population-based databases is related to the success of the Human Genome Project that has energized large-scale genetics and genomics research. While the mapping of the human genome has been a major scientific achievement, there still exists a large gap between gene discovery and our ability to utilize genetic information to improve health and prevent disease. The interest in human genetic variation and genetic epidemiology provide the basis for the construction of genetic databases. One hopes that the large-scale genetic databases enable us to understand the combined effects of genetic, lifestyle and environmental risk factors in the development of a disease. Also emerging areas of research, such as pharmacogenetics, also require access to large pools of genetic data. Pharmacogenetics, as the study of genetic variation that affects response to medical drugs, has the potential to improve the safety and efficacy of treatments, mostly by supporting the development of genetic tests that would allow to judge how likely a specific medicine is to help or harm a particular patient. People vary in their response to the same medicine due to the differences in their genetic make-up. The hope is that pharmacogenetics will enable to find the right medicine to the right patient in the right dosis. 2. What is a population-based genetic database? The population-based genetic databases rely on a large number of research subjects contributing their DNA samples in the form of blood or tissue that will be linked with medical, genealogical and lifestyle information. Iceland has been a pioneer in proposing a database complex consisting of Health Sector Database, genealogical database (Book of Icelanders) and Genetic Database. This was followed by the Estonian Genome Project (Estonia), UK BioBank (United Kingdom), CARTaGENE (Quebec, Canada), UmanGenomics (Vasterbotten, Sweden), Genome Database of the Latvian Population (Latvia), Genome Institute of Singapore (Singapore), Autogen Limited (Kingdom of Tonga). Also in USA and China projects are currently under way. The best overview of the planned genetic database projects can be found in Austin, Harding, McElroy 2003 and Cardinal, Deschenes 2003. It seems that all currently proposed population--based genetic database projects have the same goal--they intend to identify susceptibility genes for common diseases and attempt to improve the medical care and health of the populations involved. In some cases, like Iceland, Estonia and Latvia, the initiators of the projects also hope to boost the country's economy through expanding the biotechnology sector and creating new jobs. Although the database projects share the main objectives, they vary in size, subject participation, organization, as well as in the balance of government and commercial involvement. The planned projects have different consent procedures and only some (Estonia, Latvia) intend to give feedback to the participants. Researchers, physicians, patients, biotechnology firms and pharmaceutical companies are excited about the scientific and therapeutic potential presented by genetic databases. They are all interested in the discovery of the genetic causes of diseases and in the development of better treatments and cures. But their interests and motives for participating in genetic research are, however, different or even competing. …
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,003 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,002 | 0,006 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,001 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,002 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; les deux têtes enseignantes s’accordent sur ce qui est montré ici.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».