Search

Your search keyword '"Rial-Sebbag, A"' showing total 441 results
Start Over Author "Rial-Sebbag, A"
441 results on '"Rial-Sebbag, A"'

1. Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients

Author

Droin-Mollard, Marion, de Montgolfier, Sandrine, Gimenez-Roqueplo, Anne-Paule, Flahault, Cécile, Petit, Arnaud, Bourdeaut, Franck, Julia, Sophie, Rial-Sebbag, Emmanuelle, Coupier, Isabelle, Simaga, Fatoumata, Brugières, Laurence, Guerrini-Rousseau, Léa, Claret, Béatrice, Cavé, Hélène, Strullu, Marion, Hervouet, Lucile, and Lahlou-Laforêt, Khadija

Published
2024
Full Text
View/download PDF

4. Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries

Author

Roberta Biasiotto, Jennifer Viberg Johansson, Melaku Birhanu Alemu, Virginia Romano, Heidi Beate Bentzen, Jane Kaye, Mirko Ancillotti, Johanna Maria Catharina Blom, Gauthier Chassang, Dara Hallinan, Guðbjörg Andrea Jónsdóttir, Aníbal Monasterio Astobiza, Emmanuelle Rial-Sebbag, David Rodríguez-Arias, Nisha Shah, Lea Skovgaard, Ciara Staunton, Katharina Tschigg, Jorien Veldwijk, and Deborah Mascalzoni

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
Abstract

BackgroundWith new technologies, health data can be collected in a variety of different clinical, research, and public health contexts, and then can be used for a range of new purposes. Establishing the public’s views about digital health data sharing is essential for policy makers to develop effective harmonization initiatives for digital health data governance at the European level. ObjectiveThis study investigated public preferences for digital health data sharing. MethodsA discrete choice experiment survey was administered to a sample of European residents in 12 European countries (Austria, Denmark, France, Germany, Iceland, Ireland, Italy, the Netherlands, Norway, Spain, Sweden, and the United Kingdom) from August 2020 to August 2021. Respondents answered whether hypothetical situations of data sharing were acceptable for them. Each hypothetical scenario was defined by 5 attributes (“data collector,” “data user,” “reason for data use,” “information on data sharing and consent,” and “availability of review process”), which had 3 to 4 attribute levels each. A latent class model was run across the whole data set and separately for different European regions (Northern, Central, and Southern Europe). Attribute relative importance was calculated for each latent class’s pooled and regional data sets. ResultsA total of 5015 completed surveys were analyzed. In general, the most important attribute for respondents was the availability of information and consent during health data sharing. In the latent class model, 4 classes of preference patterns were identified. While respondents in 2 classes strongly expressed their preferences for data sharing with opposing positions, respondents in the other 2 classes preferred not to share their data, but attribute levels of the situation could have had an impact on their preferences. Respondents generally found the following to be the most acceptable: a national authority or academic research project as the data user; being informed and asked to consent; and a review process for data transfer and use, or transfer only. On the other hand, collection of their data by a technological company and data use for commercial communication were the least acceptable. There was preference heterogeneity across Europe and within European regions. ConclusionsThis study showed the importance of transparency in data use and oversight of health-related data sharing for European respondents. Regional and intraregional preference heterogeneity for “data collector,” “data user,” “reason,” “type of consent,” and “review” calls for governance solutions that would grant data subjects the ability to control their digital health data being shared within different contexts. These results suggest that the use of data without consent will demand weighty and exceptional reasons. An interactive and dynamic informed consent model combined with oversight mechanisms may be a solution for policy initiatives aiming to harmonize health data use across Europe.

Published
2023
Full Text
View/download PDF

5. Concordance of International Regulation of Pediatric Health Research

Author

Rothstein, Mark A., Patrinos, Dimitri, Brothers, Kyle B., Clayton, Ellen Wright, Joly, Yann, Zawati, Ma'n H., Andanda, Pamela, Arawi, Thalia, Castañeda, Mireya, Chalmers, Don, Chen, Haidan, Ghaly, Mohammed, Hatanaka, Ryoko, Hendriks, Aart C., Ho, Calvin W.L., Kaye, Jane, Krekora-Zając, Dorota, Lee, Won Bok, Mattsson, Titti, Nicolás, Pilar, Nnamuchi, Obiajulu, Rial-Sebbag, Emmanuelle, Siegal, Gil, Wathuta, Jane M., and Knoppers, Bartha Maria

Published
2023
Full Text
View/download PDF

6. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Author

Buunk, Annemarie, Goossens, Hanneke, Baas, Gert, Algera, Maartje, Schuil-Vlassak, Evelyn, Ambagts, Thijs, De Hoog-Schouten, Leonie, Musaafir, Sara, Bosch, Roelof, Tjong, Carol, Steeman, Sanne, Van der Plas, Martine, Baldew, Glenn, Den Hollander, Iris, De Waal, Zacharias, Heijn, Aurele, Nelemans, Leen, Kouwen-Lubbers, Kirsten, Van Leeuwen, Maartje, Hoogenboom, Sacha, Van Doremalen, Jacobine, Ton, Célin, Beetstra, Bastien, Meijs, Veronique, Dikken, Jan, Dubero, Dasha, Slager, Mark, Houben, Tom, Kanis, Thomas, Overmars, Wietske, Nijenhuis, Marga, Steffens, Michael, Bergs, Ingmar, Karamperis, Kariofyllis, Siamoglou, Stavroula, Ivantsik, Ouliana, Samiou, Georgia-Chryssa, Kordou, Zoe, Tsermpini, Evira, Ferentinos, Panagiotis, Karaivazoglou, Aikaterini, Rigas, George, Gerasimou, Harilaos, Voukelatou, Georgia, Georgila, Eleni, Tsermpini, Evangelia Eirini, Mendrinou, Efrossyni, Chalikiopoulou, Konstantina, Kolliopoulou, Alexandra, Mitropoulos, Konstantinos, Stratopoulos, Apostolos, Liopetas, Ioannis, Tsikrika, Athina, Barba, Evangelia, Emmanouil, Georgia, Stamopoulou, Theano, Stathoulias, Andreas, Giannopoulos, Panagiotis, Kanellakis, Filippos, Bartsakoulia, Marina, Katsila, Theodora, Douzenis, Athanassios, Gourzis, Filippos, Assimakopoulos, Konstantinos, Bignucolo, Alessia, Dal Cin, Lisa, Comello, Francesco, Mezzalira, Silvia, Puglisi, Fabio, Spina, Michele, Foltran, Luisa, Guardascione, Michela, Buonadonna, Angela, Bartoletti, Michele, Corsetti, Serena, Ongaro, Elena, Da Ros, Lucia, Bolzonello, Silvia, Spazzapan, Simon, Freschi, Andrea, Di Nardo, Paola, Palazzari, Elisa, Navarria, Federico, Innocente, Roberto, Berretta, Massimiliano, D'Andrea, Mario, Angelini, Francesco, Diraimo, Tania, Favaretto, Adolfo, Dávila-Fajardo, Cristina Lucía, Díaz-Villamarín, Xando, Martínez-González, Luis Javier, Antúnez-Rodríguez, Alba, Moreno-Escobar, Eduardo, Fernández-Gómez, Ana Estefanía, García-Navas, Paloma, Bautista-Pavés, Alicia Bautista Pavés, Burillo-Gómez, Francisco, Villegas-Rodríguez, Inmaculada, Sánchez-Ramos, Jesús Gabriel, Antolinos-Pérez, Mª José, Rivera, Ricardo, Martínez-Huertas, Susana, Thomas-Carazo, Jesús, Yañez-Sanchez, Jose Julio, Blancas-López-Barajas, Mª Isabel, García-Orta, Rocío, González-Astorga, Beatriz, Rodríguez-González, Carlos José, Ruiz-Carazo, Francisco Javier, Pérez-Campos, Manuel, Cano-Herrera, Irene, Herrera, Rosa, Gil-Jiménez, Teresa, Delgado-Ureña, Mª Teresa, Triviño-Juarez, Jose Matías, Campos-Velázquez, Salustiano, Alcántara- Espadafor, Silvia, Moreno Aguilar, Maria Rosario, Ontiveros- Ortega, Maria Carmen, Carnerero-Córdoba, Lidia, Guerrero-Jiménez, Margarita, Legeren- Álvarez, Marta, Yélamos-Vargas, Marisol, Castillo-Pérez, Isabel, Aomar-Millán, Ismael, Anguita-Romero, Manuel, Sánchez-García, María José, Sequero-Lopez, Silvia, Faro-Miguez, Naya, López-Fernández, Silvia, Leyva-Ferrer, Rosario Nieves, Herrera-Gómez, Norberto, Pertejo-Manzano, Laura, Pérez-Gutierrez, Eva Mª, Martín-de la Higuera, Antonio J., Plaza-Carrera, Jose, Baena-Garzón, Flor, Toledo-Frías, Pablo, Cruz-Valero, Inés, Chacón-McWeeny, Verónica, Gallardo- Sánchez, Isabel, Arrebola, Antonio, Guillén-Zafra, Lucía, Ceballos-Torres, Ángel, Guardia-Mancilla, Plácido, Guirao-Arrabal, Emilio, Canterero-Hinojosa, Jesús, Velasco-Fuentes, Sara, Sánchez- Cano, Daniel, Aguilar-Jaldo, Mª del Pilar, Caballero-Borrego, Juan, Praznik, Monika, Slapšak, Urška, Voncina, Blaz, Rajter, Branka, Škrinjar, Andrej, Marjetic Ulcakar, Angelika, Zidanšek, Anja, Stegne Ignjatvic, Tea, Mazej Poredoš, Barbara, Vivod Pecnik, Živka, Poplas Susic, Tonka, Juteršek, Milojka, Klen, Jasna, Skoporc, Janja, Kotar, Tjaša, Petek Šter, Marija, Zvezdana Dernovšk, Mojca, Mlinšek, Gregor, Miklavcic, Petra, Plemenitaš Ilješ, Anja, Grašic Kuhar, Cvetka, Oblak, Irena, Stražišar, Branka, Štrbac, Danijela, Matos, Erika, Mencinger, Marina, Vrbnjak, Marko, Saje, Marko, Radovanovic, Mirjana, Jeras, Katja, Bukovec, Lucija, Terzic, Tea, Minichmayr, Iris, Nanah, Abdulaziz, Nielsen, Elisabet, Zou, Yuanxi, Lauschke, Volker, Johansson, Inger, Zhou, Yitian, Nordling, Åsa, Aigner, Christof, Dames-Ludwig, Marlies, Monteforte, Rossella, Sunder-Plassmann, Raute, Steinhauser, Corinna, Sengoelge, Guerkan, Winnicki, Wolfgang, Schmidt, Alice, Vasileios, Fragoulakis, Fontana, Vanessa, Hanson, Anita, Little, Margaret, Hornby, Rachael, Dello Russo, Cinzia, French, Stephanie, Hampson, Jamie, Gumustekin, Mukaddes, Anyfantis, George, Hampson, Lucy, Lewis, David, Westhead, Ruth, Prince, Clare, Rajasingam, Arjunan, Swen, Jesse J, van der Wouden, Cathelijne H, Manson, Lisanne EN, Abdullah-Koolmees, Heshu, Blagec, Kathrin, Blagus, Tanja, Böhringer, Stefan, Cambon-Thomsen, Anne, Cecchin, Erika, Cheung, Ka-Chun, Deneer, Vera HM, Dupui, Mathilde, Ingelman-Sundberg, Magnus, Jonsson, Siv, Joefield-Roka, Candace, Just, Katja S, Karlsson, Mats O, Konta, Lidija, Koopmann, Rudolf, Kriek, Marjolein, Lehr, Thorsten, Mitropoulou, Christina, Rial-Sebbag, Emmanuelle, Rollinson, Victoria, Roncato, Rossana, Samwald, Matthias, Schaeffeler, Elke, Skokou, Maria, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia C, Tremmel, Roman, Turner, Richard M, van Rhenen, Mandy H, Dávila Fajardo, Cristina L, Dolžan, Vita, Patrinos, George P, Pirmohamed, Munir, Sunder-Plassmann, Gere, Toffoli, Giuseppe, and Guchelaar, Henk-Jan

Published
2023
Full Text
View/download PDF

7. La collégialité dans la mise en place d’une sédation profonde et continue dans un centre de cancérologie en France

Author

Bettina Couderc, Alfonsina Faya Robles, Nathalie Caunes-Hilary, Laurie Galiby, and Emmanuelle Rial Sebbag

Subjects
fin de vie, collegialité, cancérologie, soins palliatifs, Ethics, BJ1-1725
Abstract

Une procédure collégiale désigne le fait de recueillir, avant de prendre une décision médicale délicate, l’avis de l’ensemble de l’équipe de soins responsable du patient, incluant le personnel infirmier et aide-soignant, entre autres. La loi Claeys-Leonetti relative à la fin de vie (2016) l’inscrit dans le droit français comme étant obligatoire lors de la mise en place d’une sédation profonde et continue maintenue jusqu’au décès (SPCMD). L’objectif de l’étude est de faire un état des lieux de la connaissance de cet aspect de loi par le personnel soignant d’un institut de cancérologie et d’identifier comment la collégialité se met en place pour une décision de SPCMD selon les services. Nous avons proposé un questionnaire en ligne et anonyme à l’ensemble des acteurs du soin (connaissance de la loi Claeys-Leonetti) puis nous avons rencontré les soignants des différents services en groupes de discussion (cadres, personnel infirmier et aides-soignants) ou en entretiens individuels (médecins). Les résultats montrent que la loi est mieux connue, toutes professions confondues, des jeunes soignants (moins de 5 ans d’expérience) et surtout mieux revendiquée par les infirmières et aides-soignantes que par les médecins. Nous rapportons la diversité de la mise en œuvre de la collégialité pour une décision de sédation, en termes de formalisation, de standardisation et d’interprofessionnalisation. Nous concluons que la mise en place de la collégialité de façon anticipée pour une décision élargit les modes de communication pluri/inter professionnelle et permet d’apaiser la souffrance des patients, des médecins et des soignants.

Published
2023
Full Text
View/download PDF

8. Biobanking Across Europe Post-GDPR: A Deliberately Fragmented Landscape

Author

Tzortzatou, Olga, Slokenberga, Santa, Reichel, Jane, da Costa Andrade, Andreia, Barbosa, Carla, Bekaert, Sofie, van Veen, Evert-Ben, Romeo-Casabona, Carlos M., Cathaoir, Katharina Ó., Chassang, Gauthier, Debucquoy, Annelies, Derèze, Jean-Jacques, Dollé, Laurent, Fält, Sonja Eaker, Halouzka, Radek, Hartlev, Mette, Hisbergues, Michael, Hoppe, Nils, Huys, Isabelle, Kindt, Els, Befring, Anne Kjersti, Kozera, Lukasz, Krekora-Zajac, Dorota, Lalova, Teodora, Mayrhofer, Michaela, Negrouk, Anastassia, Pawlikowski, Jakub, Penasa, Simone, Pormeister, Kärt, Rial-Sebbag, Emmanuelle, Siapka, Anastasia, Southerington, Tom, Stenbeck, Magnus, Šutalo, Maja, Tomasi, Marta, Valcke, Peggy, Vella Falzon, Ruth, Casanovas, Pompeu, Series Editor, Sartor, Giovanni, Series Editor, Slokenberga, Santa, editor, Tzortzatou, Olga, editor, and Reichel, Jane, editor

Published
2021
Full Text
View/download PDF

14. Deciphering the Fragmentation of the Human Genome Editing Regulatory Landscape

Author

Aurélie Mahalatchimy and Emmanuelle Rial-Sebbag

Subjects
human genome editing, European Union law, French law, fragmentation, regulatory landscape, Political science
Abstract

Genome editing techniques have generated a growing interest following the discovery of the so-called CRISPR-Cas technique. It has raised a global uproar as regards its use in humans, especially after the 2018 announcement of a Chinese scientist who had used CRISPR to edit the genes of twin embryos. Indeed, one of the greatest concerns, although not the only one, has been the use of genome editing technologies to modify the human germline. In such scientific and technological context, the law plays a key role in framing what should be allowed or prohibited, and under which conditions, to find a balance between safe and accessible innovative treatments and respect of fundamental rights in accordance with the societal values and choices. Within the European Union, several institutions have considered the issues raised by human genome editing, and several legal texts participate in the establishment of the European regulatory framework applicable to human genome editing. Yet we argue in this article that the established regulatory landscape is fragmented in the sense of being divided, split, or segmented. Such fragmentation, which may have been inevitable for historical and technicolegal reasons, produces effects regarding the role of the current regulatory frameworks applicable to human genome editing. Focusing on the European Union and on the French levels of governance, we discuss how such fragmentation takes place through the identification of determinants of the human genome editing fragmented regulatory landscape. We argue that it should be seen as a process providing more contingent responses to human genome editing reflecting changing political and legal contexts.

Published
2022
Full Text
View/download PDF

18. Biobanking Across Europe Post-GDPR: A Deliberately Fragmented Landscape

Author

Tzortzatou, Olga, primary, Slokenberga, Santa, additional, Reichel, Jane, additional, da Costa Andrade, Andreia, additional, Barbosa, Carla, additional, Bekaert, Sofie, additional, van Veen, Evert-Ben, additional, Romeo-Casabona, Carlos M., additional, Cathaoir, Katharina Ó., additional, Chassang, Gauthier, additional, Debucquoy, Annelies, additional, Derèze, Jean-Jacques, additional, Dollé, Laurent, additional, Fält, Sonja Eaker, additional, Halouzka, Radek, additional, Hartlev, Mette, additional, Hisbergues, Michael, additional, Hoppe, Nils, additional, Huys, Isabelle, additional, Kindt, Els, additional, Befring, Anne Kjersti, additional, Kozera, Lukasz, additional, Krekora-Zajac, Dorota, additional, Lalova, Teodora, additional, Mayrhofer, Michaela, additional, Negrouk, Anastassia, additional, Pawlikowski, Jakub, additional, Penasa, Simone, additional, Pormeister, Kärt, additional, Rial-Sebbag, Emmanuelle, additional, Siapka, Anastasia, additional, Southerington, Tom, additional, Stenbeck, Magnus, additional, Šutalo, Maja, additional, Tomasi, Marta, additional, Valcke, Peggy, additional, and Vella Falzon, Ruth, additional

Published
2021
Full Text
View/download PDF

19. Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries

Author

Biasiotto, Roberta, primary, Viberg Johansson, Jennifer, additional, Alemu, Melaku Birhanu, additional, Romano, Virginia, additional, Bentzen, Heidi Beate, additional, Kaye, Jane, additional, Ancillotti, Mirko, additional, Blom, Johanna Maria Catharina, additional, Chassang, Gauthier, additional, Hallinan, Dara, additional, Jónsdóttir, Guðbjörg Andrea, additional, Monasterio Astobiza, Aníbal, additional, Rial-Sebbag, Emmanuelle, additional, Rodríguez-Arias, David, additional, Shah, Nisha, additional, Skovgaard, Lea, additional, Staunton, Ciara, additional, Tschigg, Katharina, additional, Veldwijk, Jorien, additional, and Mascalzoni, Deborah, additional

Published
2023
Full Text
View/download PDF

22. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

Author

Carrieri, Daniele, Howard, Heidi C., Benjamin, Caroline, Clarke, Angus J., Dheensa, Sandi, Doheny, Shane, Hawkins, Naomi, Halbersma-Konings, Tanya F., Jackson, Leigh, Kayserili, Hülya, Kelly, Susan E., Lucassen, Anneke M., Mendes, Álvaro, Rial-Sebbag, Emmanuelle, Stefánsdóttir, Vigdís, Turnpenny, Peter D., van El, Carla G., van Langen, Irene M., Cornel, Martina C., Forzano, Francesca, and On behalf of the European Society of Human Genetics

Published
2019
Full Text
View/download PDF

23. International network of cancer genome projects

Author

Hudson (Chairperson), Thomas J, Anderson, Warwick, Aretz, Axel, Barker, Anna D, Bell, Cindy, Bernabé, Rosa R, Bhan, MK, Calvo, Fabien, Eerola, Iiro, Gerhard, Daniela S, Guttmacher, Alan, Guyer, Mark, Hemsley, Fiona M, Jennings, Jennifer L, Kerr, David, Klatt, Peter, Kolar, Patrik, Kusuda, Jun, Lane, David P, Laplace, Frank, Lu, Youyong, Nettekoven, Gerd, Ozenberger, Brad, Peterson, Jane, Rao, TS, Remacle, Jacques, Schafer, Alan J, Shibata, Tatsuhiro, Stratton, Michael R, Vockley, Joseph G, Watanabe, Koichi, Yang, Huanming, Yuen, Matthew MF, Knoppers (Leader), Bartha M, Bobrow, Martin, Cambon-Thomsen, Anne, Dressler, Lynn G, Dyke, Stephanie OM, Joly, Yann, Kato, Kazuto, Kennedy, Karen L, Nicolás, Pilar, Parker, Michael J, Rial-Sebbag, Emmanuelle, Romeo-Casabona, Carlos M, Shaw, Kenna M, Wallace, Susan, Wiesner, Georgia L, Zeps, Nikolajs, Lichter (Leader), Peter, Biankin, Andrew V, Chabannon, Christian, Chin, Lynda, Clément, Bruno, de Alava, Enrique, Degos, Françoise, Ferguson, Martin L, Geary, Peter, Hayes, D Neil, Hudson, Thomas J, Johns, Amber L, Kasprzyk, Arek, Nakagawa, Hidewaki, Penny, Robert, Piris, Miguel A, Sarin, Rajiv, Scarpa, Aldo, van de Vijver, Marc, Futreal (Leader), P Andrew, Aburatani, Hiroyuki, Bayés, Mónica, Bowtell, David DL, Campbell, Peter J, Estivill, Xavier, Grimmond, Sean M, Gut, Ivo, Hirst, Martin, López-Otín, Carlos, Majumder, Partha, Marra, Marco, McPherson, John D, Ning, Zemin, Puente, Xose S, Ruan, Yijun, Stunnenberg, Hendrik G, Swerdlow, Harold, Velculescu, Victor E, Wilson, Richard K, Xue, Hong H, Yang, Liu, Spellman (Leader), Paul T, Bader, Gary D, Boutros, Paul C, and Flicek, Paul

Subjects
Cancer, Genetics, Human Genome, DNA Methylation, DNA Mutational Analysis, Databases, Genetic, Genes, Neoplasm, Genetics, Medical, Genome, Human, Genomics, Humans, Intellectual Property, International Cooperation, Mutation, Neoplasms, International Cancer Genome Consortium, General Science & Technology
Abstract

The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.

Published
2010

24. International network of cancer genome projects.

Author

International Cancer Genome Consortium, Hudson, Thomas J, Anderson, Warwick, Artez, Axel, Barker, Anna D, Bell, Cindy, Bernabé, Rosa R, Bhan, MK, Calvo, Fabien, Eerola, Iiro, Gerhard, Daniela S, Guttmacher, Alan, Guyer, Mark, Hemsley, Fiona M, Jennings, Jennifer L, Kerr, David, Klatt, Peter, Kolar, Patrik, Kusada, Jun, Lane, David P, Laplace, Frank, Youyong, Lu, Nettekoven, Gerd, Ozenberger, Brad, Peterson, Jane, Rao, TS, Remacle, Jacques, Schafer, Alan J, Shibata, Tatsuhiro, Stratton, Michael R, Vockley, Joseph G, Watanabe, Koichi, Yang, Huanming, Yuen, Matthew MF, Knoppers, Bartha M, Bobrow, Martin, Cambon-Thomsen, Anne, Dressler, Lynn G, Dyke, Stephanie OM, Joly, Yann, Kato, Kazuto, Kennedy, Karen L, Nicolás, Pilar, Parker, Michael J, Rial-Sebbag, Emmanuelle, Romeo-Casabona, Carlos M, Shaw, Kenna M, Wallace, Susan, Wiesner, Georgia L, Zeps, Nikolajs, Lichter, Peter, Biankin, Andrew V, Chabannon, Christian, Chin, Lynda, Clément, Bruno, de Alava, Enrique, Degos, Françoise, Ferguson, Martin L, Geary, Peter, Hayes, D Neil, Johns, Amber L, Kasprzyk, Arek, Nakagawa, Hidewaki, Penny, Robert, Piris, Miguel A, Sarin, Rajiv, Scarpa, Aldo, van de Vijver, Marc, Futreal, P Andrew, Aburatani, Hiroyuki, Bayés, Mónica, Botwell, David DL, Campbell, Peter J, Estivill, Xavier, Grimmond, Sean M, Gut, Ivo, Hirst, Martin, López-Otín, Carlos, Majumder, Partha, Marra, Marco, McPherson, John D, Ning, Zemin, Puente, Xose S, Ruan, Yijun, Stunnenberg, Hendrik G, Swerdlow, Harold, Velculescu, Victor E, Wilson, Richard K, Xue, Hong H, Yang, Liu, Spellman, Paul T, Bader, Gary D, and Boutros, Paul C

Subjects
International Cancer Genome Consortium, Humans, Neoplasms, DNA Mutational Analysis, Genetics, Medical, Genomics, DNA Methylation, Mutation, Genome, Human, International Cooperation, Intellectual Property, Databases, Genetic, Genes, Neoplasm, Genetics, Medical, Genome, Human, Databases, Genetic, Genes, Neoplasm, General Science & Technology
Abstract

The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.

Published
2010

25. Including all voices in international data-sharing governance

Author

Jane Kaye, Sharon F. Terry, Eric Juengst, Sarah Coy, Jennifer R. Harris, Don Chalmers, Edward S. Dove, Isabelle Budin-Ljøsne, Clement Adebamowo, Emilomo Ogbe, Louise Bezuidenhout, Michael Morrison, Joel T. Minion, Madeleine J. Murtagh, Jusaku Minari, Harriet Teare, Rosario Isasi, Kazuto Kato, Emmanuelle Rial-Sebbag, Patricia Marshall, Barbara Koenig, and Anne Cambon-Thomsen

Subjects
Data sharing, International research, Governance, Public engagement, Inclusion, Digital technologies, Medicine, Genetics, QH426-470
Abstract

Abstract Background Governments, funding bodies, institutions, and publishers have developed a number of strategies to encourage researchers to facilitate access to datasets. The rationale behind this approach is that this will bring a number of benefits and enable advances in healthcare and medicine by allowing the maximum returns from the investment in research, as well as reducing waste and promoting transparency. As this approach gains momentum, these data-sharing practices have implications for many kinds of research as they become standard practice across the world. Main text The governance frameworks that have been developed to support biomedical research are not well equipped to deal with the complexities of international data sharing. This system is nationally based and is dependent upon expert committees for oversight and compliance, which has often led to piece-meal decision-making. This system tends to perpetuate inequalities by obscuring the contributions and the important role of different data providers along the data stream, whether they be low- or middle-income country researchers, patients, research participants, groups, or communities. As research and data-sharing activities are largely publicly funded, there is a strong moral argument for including the people who provide the data in decision-making and to develop governance systems for their continued participation. Conclusions We recommend that governance of science becomes more transparent, representative, and responsive to the voices of many constituencies by conducting public consultations about data-sharing addressing issues of access and use; including all data providers in decision-making about the use and sharing of data along the whole of the data stream; and using digital technologies to encourage accessibility, transparency, and accountability. We anticipate that this approach could enhance the legitimacy of the research process, generate insights that may otherwise be overlooked or ignored, and help to bring valuable perspectives into the decision-making around international data sharing.

Published
2018
Full Text
View/download PDF

27. Mechanisms of the Development of Allergy (MeDALL): Introducing novel concepts in allergy phenotypes

Author

Anto, Josep M., Bousquet, Jean, Akdis, Mubeccel, Auffray, Charles, Keil, Thomas, Momas, Isabelle, Postma, Dirkje S., Valenta, Rudolf, Wickman, Magnus, Cambon-Thomsen, Anne, Haahtela, Tari, Lambrecht, Bart N., Lodrup Carlsen, Karin C., Koppelman, Gerard H., Sunyer, Jordi, Zuberbier, Torsten, Annesi-Maesano, Isabelle, Arno, Albert, Bindslev-Jensen, Carsten, De Carlo, Giuseppe, Forastiere, Francesco, Heinrich, Joachim, Kowalski, Marek L., Maier, Dieter, Melén, Erik, Smit, Henriette A., Standl, Marie, Wright, John, Asarnoj, Anna, Benet, Marta, Ballardini, Natalia, Garcia-Aymerich, Judith, Gehring, Ulrike, Guerra, Stefano, Hohmann, Cynthia, Kull, Inger, Lupinek, Christian, Pinart, Mariona, Skrindo, Ingebjorg, Westman, Marit, Smagghe, Delphine, Akdis, Cezmi, Andersson, Niklas, Bachert, Claus, Ballereau, Stephane, Ballester, Ferran, Basagana, Xavier, Bedbrook, Anna, Bergstrom, Anna, von Berg, Andrea, Brunekreef, Bert, Burte, Emilie, Carlsen, Kai-Hakon, Chatzi, Leda, Coquet, Jonathan M., Curin, Mirela, Demoly, Pascal, Eller, Esben, Fantini, Maria Pia, von Hertzen, Leena, Hovland, Vergard, Jacquemin, Benedicte, Just, Jocelyne, Keller, Theresa, Kiss, Renata, Kogevinas, Manolis, Koletzko, Sibylle, Lau, Susanne, Lehmann, Irina, Lemonnier, Nicolas, Mäkelä, Mika, Mestres, Jordi, Mowinckel, Peter, Nadif, Rachel, Nawijn, Martijn C., Pellet, Johan, Pin, Isabelle, Porta, Daniela, Rancière, Fanny, Rial-Sebbag, Emmanuelle, Saeys, Yvan, Schuijs, Martijn J., Siroux, Valerie, Tischer, Christina G., Torrent, Mathies, Varraso, Raphaelle, Wenzel, Kalus, and Xu, Cheng-Jian

Published
2017
Full Text
View/download PDF

29. Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study

Author

van der Wouden, Cathelijne H., Böhringer, Stefan, Cecchin, Erika, Cheung, Ka-Chun, Dávila-Fajardo, Cristina Lucía, Deneer, Vera H.M., Dolžan, Vita, Ingelman-Sundberg, Magnus, Jönsson, Siv, Karlsson, Mats O., Kriek, Marjolein, Mitropoulou, Christina, Patrinos, George P., Pirmohamed, Munir, Rial-Sebbag, Emmanuelle, Samwald, Matthias, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia, Sunder-Plassmann, Gere, Toffoli, Giuseppe, Turner, Richard M., van Rhenen, Mandy H., van Zwet, Erik, Swen, Jesse J., and Guchelaar, Henk-Jan

Published
2020
Full Text
View/download PDF

33. Human germline gene editing: Recommendations of ESHG and ESHRE

Author

de Wert, Guido, Pennings, Guido, Clarke, Angus, Eichenlaub-Ritter, Ursula, van El, Carla G., Forzano, Francesca, Goddijn, Mariëtte, Heindryckx, Björn, Howard, Heidi C., Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Tarlatzis, Basil C., Cornel, Martina C., and On behalf of the European Society of Human Genetics and the European Society of Human Reproduction and Embryology

Published
2018
Full Text
View/download PDF

37. Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory

Author

Bernier, Alexander, primary, Molnár-Gábor, Fruzsina, additional, Knoppers, Bartha M., additional, Borry, Pascal, additional, Cesar, Priscilla M. D. G., additional, Devriendt, Thijs, additional, Goisauf, Melanie, additional, Murtagh, Madeleine, additional, Jiménez, Pilar Nicolás, additional, Recuero, Mikel, additional, Rial-Sebbag, Emmanuelle, additional, Shabani, Mahsa, additional, Wilson, Rebecca C., additional, Zaccagnini, Davide, additional, and Maxwell, Lauren, additional

Published
2023
Full Text
View/download PDF

38. Public Preferences for Digital Health Data Sharing : Discrete Choice Experiment Study in 12 European Countries.

Author

Biasiotto, Roberta, Viberg Johansson, Jennifer, Alemu, Melaku Birhanu, Romano, Virginia, Bentzen, Heidi Beate, Kaye, Jane, Ancillotti, Mirko, Blom, Johanna Maria Catharina, Chassang, Gauthier, Hallinan, Dara, Jónsdóttir, Guðbjörg Andrea, Monasterio Astobiza, Aníbal, Rial-Sebbag, Emmanuelle, Rodríguez-Arias, David, Shah, Nisha, Skovgaard, Lea, Staunton, Ciara, Tschigg, Katharina, Veldwijk, Jorien, Mascalzoni, Deborah, Biasiotto, Roberta, Viberg Johansson, Jennifer, Alemu, Melaku Birhanu, Romano, Virginia, Bentzen, Heidi Beate, Kaye, Jane, Ancillotti, Mirko, Blom, Johanna Maria Catharina, Chassang, Gauthier, Hallinan, Dara, Jónsdóttir, Guðbjörg Andrea, Monasterio Astobiza, Aníbal, Rial-Sebbag, Emmanuelle, Rodríguez-Arias, David, Shah, Nisha, Skovgaard, Lea, Staunton, Ciara, Tschigg, Katharina, Veldwijk, Jorien, and Mascalzoni, Deborah

Abstract

BACKGROUND: With new technologies, health data can be collected in a variety of different clinical, research, and public health contexts, and then can be used for a range of new purposes. Establishing the public's views about digital health data sharing is essential for policy makers to develop effective harmonization initiatives for digital health data governance at the European level. OBJECTIVE: This study investigated public preferences for digital health data sharing. METHODS: A discrete choice experiment survey was administered to a sample of European residents in 12 European countries (Austria, Denmark, France, Germany, Iceland, Ireland, Italy, the Netherlands, Norway, Spain, Sweden, and the United Kingdom) from August 2020 to August 2021. Respondents answered whether hypothetical situations of data sharing were acceptable for them. Each hypothetical scenario was defined by 5 attributes ("data collector," "data user," "reason for data use," "information on data sharing and consent," and "availability of review process"), which had 3 to 4 attribute levels each. A latent class model was run across the whole data set and separately for different European regions (Northern, Central, and Southern Europe). Attribute relative importance was calculated for each latent class's pooled and regional data sets. RESULTS: A total of 5015 completed surveys were analyzed. In general, the most important attribute for respondents was the availability of information and consent during health data sharing. In the latent class model, 4 classes of preference patterns were identified. While respondents in 2 classes strongly expressed their preferences for data sharing with opposing positions, respondents in the other 2 classes preferred not to share their data, but attribute levels of the situation could have had an impact on their preferences. Respondents generally found the following to be the most acceptable: a national authority or academic research project as the data user; bein, The last two authors contributed equally., Governance of health data in cyberspace

Published
2023
Full Text
View/download PDF

39. A 12-gene pharmacogenetic panel to prevent adverse drug reactions : an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Author

Swen, JesseJ, van der Wouden, Cathelijne H., Manson, Lisanne E. N., Abdullah-Koolmees, Heshu, Blagec, Kathrin, Blagus, Tanja, Böhringer, Stefan, Cambon-Thomsen, Anne, Cecchin, Erika, Cheung, Ka-Chun, Deneer, Vera H. M., Dupui, Mathilde, Ingelman-Sundberg, Magnus, Jönsson, Siv, Joefield-Roka, Candace, Just, Katja S., Karlsson, Mats, Konta, Lidija, Koopmann, Rudolf, Kriek, Marjolein, Lehr, Thorsten, Mitropoulou, Christina, Rial-Sebbag, Emmanuelle, Rollinson, Victoria, Roncato, Rossana, Samwald, Matthias, Schaeffeler, Elke, Skokou, Maria, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia C., Tremmel, Roman, Turner, Richard M., van Rhenen, Mandy H., Fajardo, Cristina L. Davila, Dolzan, Vita, Patrinos, George P., Pirmohamed, Munir, Sunder-Plassmann, Gere, Toffoli, Giuseppe, Guchelaar, Henk-Jan, Swen, JesseJ, van der Wouden, Cathelijne H., Manson, Lisanne E. N., Abdullah-Koolmees, Heshu, Blagec, Kathrin, Blagus, Tanja, Böhringer, Stefan, Cambon-Thomsen, Anne, Cecchin, Erika, Cheung, Ka-Chun, Deneer, Vera H. M., Dupui, Mathilde, Ingelman-Sundberg, Magnus, Jönsson, Siv, Joefield-Roka, Candace, Just, Katja S., Karlsson, Mats, Konta, Lidija, Koopmann, Rudolf, Kriek, Marjolein, Lehr, Thorsten, Mitropoulou, Christina, Rial-Sebbag, Emmanuelle, Rollinson, Victoria, Roncato, Rossana, Samwald, Matthias, Schaeffeler, Elke, Skokou, Maria, Schwab, Matthias, Steinberger, Daniela, Stingl, Julia C., Tremmel, Roman, Turner, Richard M., van Rhenen, Mandy H., Fajardo, Cristina L. Davila, Dolzan, Vita, Patrinos, George P., Pirmohamed, Munir, Sunder-Plassmann, Gere, Toffoli, Giuseppe, and Guchelaar, Henk-Jan

Abstract

Background: The benefit of pharmacogenetic testing before starting drug therapy has been well documented for several single gene-drug combinations. However, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel has not been rigorously assessed. Methods: We conducted an open-label, multicentre, controlled, cluster-randomised, crossover implementation study of a 12-gene pharmacogenetic panel in 18 hospitals, nine community health centres, and 28 community pharmacies in seven European countries (Austria, Greece, Italy, the Netherlands, Slovenia, Spain, and the UK). Patients aged 18 years or older receiving a first prescription for a drug clinically recommended in the guidelines of the Dutch Pharmacogenetics Working Group (ie, the index drug) as part of routine care were eligible for inclusion. Exclusion criteria included previous genetic testing for a gene relevant to the index drug, a planned duration of treatment of less than 7 consecutive days, and severe renal or liver insufficiency. All patients gave written informed consent before taking part in the study. Participants were genotyped for 50 germline variants in 12 genes, and those with an actionable variant (ie, a drug-gene interaction test result for which the Dutch Pharmacogenetics Working Group [DPWG] recommended a change to standard-of-care drug treatment) were treated according to DPWG recommendations. Patients in the control group received standard treatment. To prepare clinicians for pre-emptive pharmacogenetic testing, local teams were educated during a site-initiation visit and online educational material was made available. The primary outcome was the occurrence of clinically relevant adverse drug reactions within the 12-week follow-up period. Analyses were irrespective of patient adherence to the DPWG guidelines. The primary analysis was done using a gatekeeping analysis, in which outcomes in people with an actionable drug-gene interaction in the study group versus the

Published
2023
Full Text
View/download PDF

40. Collegiality in the Implementation of Deep and Continuous Sedation in a Cancer Centre in France

Author

Couderc, Bettina, Faya Robles, Alfonsina, Caunes-Hilary, Nathalie, Galiby, Laurie, Rial Sebbag, Emmanuelle, Couderc, Bettina, Faya Robles, Alfonsina, Caunes-Hilary, Nathalie, Galiby, Laurie, and Rial Sebbag, Emmanuelle

Abstract

A collegial procedure refers to the fact that, before making a delicate medical decision, the opinion of the entire care team responsible for the patient is sought, including nurses and orderlies, among others. The Claeys-Leonetti end-of-life law (2016) enshrines this in French law as mandatory when implementing deep and continuous sedation until death (DCSD). The aim of the study was to take stock of the awareness of this aspect of the law among all the healthcare staff of a cancer institute and to identify how collegiality was established for a DCSD decision, depending on the department. We administered an anonymous online questionnaire to all those involved in healthcare (knowledge of the Claeys-Leonetti Act), and then met healthcare workers from the various departments in discussion groups (managers, nursing staff and orderlies) or in individual interviews (doctors). The results show that young healthcare staff (with less than 5 years’ experience) are more familiar with the law, across all professions, and that nurses and orderlies are more likely to assert their rights than doctors. We report on the diversity of the implementation of collegiality for sedation decisions, in terms of formalisation, standardisation and inter-professionalisation. We conclude that the implementation of collegiality in advance of a decision broadens the methods of multi/inter-professional communication and helps to alleviate the suffering of patients, doctors and care givers., Une procédure collégiale désigne le fait de recueillir, avant de prendre une décision médicale délicate, l’avis de l’ensemble de l’équipe de soins responsable du patient, incluant le personnel infirmier et aide-soignant, entre autres. La loi Claeys-Leonetti relative à la fin de vie (2016) l’inscrit dans le droit français comme étant obligatoire lors de la mise en place d’une sédation profonde et continue maintenue jusqu’au décès (SPCMD). L’objectif de l’étude est de faire un état des lieux de la connaissance de cet aspect de loi par le personnel soignant d’un institut de cancérologie et d’identifier comment la collégialité se met en place pour une décision de SPCMD selon les services. Nous avons proposé un questionnaire en ligne et anonyme à l’ensemble des acteurs du soin (connaissance de la loi Claeys-Leonetti) puis nous avons rencontré les soignants des différents services en groupes de discussion (cadres, personnel infirmier et aides-soignants) ou en entretiens individuels (médecins). Les résultats montrent que la loi est mieux connue, toutes professions confondues, des jeunes soignants (moins de 5 ans d’expérience) et surtout mieux revendiquée par les infirmières et aides-soignantes que par les médecins. Nous rapportons la diversité de la mise en œuvre de la collégialité pour une décision de sédation, en termes de formalisation, de standardisation et d’interprofessionnalisation. Nous concluons que la mise en place de la collégialité de façon anticipée pour une décision élargit les modes de communication pluri/inter professionnelle et permet d’apaiser la souffrance des patients, des médecins et des soignants.

Published
2023

41. Public Preferences for Digital Health Data Sharing:Discrete Choice Experiment Study in 12 European Countries

Author

Biasiotto, Roberta, Viberg Johansson, Jennifer, Alemu, Melaku Birhanu, Romano, Virginia, Bentzen, Heidi Beate, Kaye, Jane, Ancillotti, Mirko, Blom, Johanna Maria Catharina, Chassang, Gauthier, Hallinan, Dara, Jónsdóttir, Guðbjörg Andrea, Monasterio Astobiza, Aníbal, Rial-Sebbag, Emmanuelle, Rodríguez-Arias, David, Shah, Nisha, Skovgaard, Lea, Staunton, Ciara, Tschigg, Katharina, Veldwijk, Jorien, Mascalzoni, Deborah, Biasiotto, Roberta, Viberg Johansson, Jennifer, Alemu, Melaku Birhanu, Romano, Virginia, Bentzen, Heidi Beate, Kaye, Jane, Ancillotti, Mirko, Blom, Johanna Maria Catharina, Chassang, Gauthier, Hallinan, Dara, Jónsdóttir, Guðbjörg Andrea, Monasterio Astobiza, Aníbal, Rial-Sebbag, Emmanuelle, Rodríguez-Arias, David, Shah, Nisha, Skovgaard, Lea, Staunton, Ciara, Tschigg, Katharina, Veldwijk, Jorien, and Mascalzoni, Deborah

Abstract

BACKGROUND: With new technologies, health data can be collected in a variety of different clinical, research, and public health contexts, and then can be used for a range of new purposes. Establishing the public's views about digital health data sharing is essential for policy makers to develop effective harmonization initiatives for digital health data governance at the European level. OBJECTIVE: This study investigated public preferences for digital health data sharing. METHODS:A discrete choice experiment survey was administered to a sample of European residents in 12 European countries (Austria, Denmark, France, Germany, Iceland, Ireland, Italy, the Netherlands, Norway, Spain, Sweden, and the United Kingdom) from August 2020 to August 2021. Respondents answered whether hypothetical situations of data sharing were acceptable for them. Each hypothetical scenario was defined by 5 attributes ("data collector," "data user," "reason for data use," "information on data sharing and consent," and "availability of review process"), which had 3 to 4 attribute levels each. A latent class model was run across the whole data set and separately for different European regions (Northern, Central, and Southern Europe). Attribute relative importance was calculated for each latent class's pooled and regional data sets. RESULTS: A total of 5015 completed surveys were analyzed. In general, the most important attribute for respondents was the availability of information and consent during health data sharing. In the latent class model, 4 classes of preference patterns were identified. While respondents in 2 classes strongly expressed their preferences for data sharing with opposing positions, respondents in the other 2 classes preferred not to share their data, but attribute levels of the situation could have had an impact on their preferences. Respondents generally found the following to be the most accep

Published
2023

42. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

Author

Swen, J. J., van der Wouden, C. H., Manson, L. E., Abdullah-Koolmees, H., Blagec, K., Blagus, T., Bohringer, S., Cambon-Thomsen, A., Cecchin, E., Cheung, K. -C., Deneer, V. H., Dupui, M., Ingelman-Sundberg, M., Jonsson, S., Joefield-Roka, C., Just, K. S., Karlsson, M. O., Konta, L., Koopmann, R., Kriek, M., Lehr, T., Mitropoulou, C., Rial-Sebbag, E., Rollinson, V., Roncato, R., Samwald, M., Schaeffeler, E., Skokou, M., Schwab, M., Steinberger, D., Stingl, J. C., Tremmel, R., Turner, R. M., van Rhenen, M. H., Davila Fajardo, C. L., Dolzan, V., Patrinos, G. P., Pirmohamed, M., Sunder-Plassmann, G., Toffoli, G., Guchelaar, H. -J., Buunk, A., Goossens, H., Baas, G., Algera, M., Schuil-Vlassak, E., Ambagts, T., De Hoog-Schouten, L., Musaafir, S., Bosch, R., Tjong, C., Steeman, S., Van der Plas, M., Baldew, G., Den Hollander, I., De Waal, Z., Heijn, A., Nelemans, L., Kouwen-Lubbers, K., Van Leeuwen, M., Hoogenboom, S., Van Doremalen, J., Ton, C., Beetstra, B., Meijs, V., Dikken, J., Dubero, D., Slager, M., Houben, T., Kanis, T., Overmars, W., Nijenhuis, M., Steffens, M., Bergs, I., Karamperis, K., Siamoglou, S., Ivantsik, O., Samiou, G. -C., Kordou, Z., Tsermpini, E., Ferentinos, P., Karaivazoglou, A., Rigas, G., Gerasimou, H., Voukelatou, G., Georgila, E., Tsermpini, E. E., Mendrinou, E., Chalikiopoulou, K., Kolliopoulou, A., Mitropoulos, K., Stratopoulos, A., Liopetas, I., Tsikrika, A., Barba, E., Emmanouil, G., Stamopoulou, T., Stathoulias, A., Giannopoulos, P., Kanellakis, F., Bartsakoulia, M., Katsila, T., Douzenis, A., Gourzis, F., Assimakopoulos, K., Bignucolo, A., Dal Cin, L., Comello, F., Mezzalira, S., Puglisi, F., Spina, M., Foltran, L., Guardascione, M., Buonadonna, A., Bartoletti, M., Corsetti, S., Ongaro, E., Da Ros, L., Bolzonello, S., Spazzapan, S., Freschi, A., Di Nardo, P., Palazzari, E., Navarria, F., Innocente, R., Berretta, M., D'Andrea, M., Angelini, F., Diraimo, T., Favaretto, A., Davila-Fajardo, C. L., Diaz-Villamarin, X., Martinez-Gonzalez, L. J., Antunez-Rodriguez, A., Moreno-Escobar, E., Fernandez-Gonzalez, A. E., Garcia-Navas, P., Bautista-Paves, A. B. P., Burillo-Gomez, F., Villegas-Rodriguez, I., Sanchez-Ramos, J. G., Antolinos-Perez, M. J., Rivera, R., Martinez-Huertas, S., Thomas-, J., Carazo, J. J., Yanez-Sanchez, M. I., Blancas-Lopez-Navajas, R., Garcia-Orta, B., Gonzalez-Astorga, C. J., Rodriguez-Gonzalez, F. J., Ruiz-Carazo, M., Lopez-Perez, I., Cano-Herrera, R., Herrera, T., Gil-Jimenez, Delgado-Urena, M. T., Trivino-Juarez, J. M., Campos-Velazquez, S., Alcantara-Espadafor, S., Moreno Aguilar, M. R., Ontiveros-Ortega, M. C., Carnerero-Cordoba, L., Guerrero-Jimenez, M., Legeren-Alvarez, M., Yelamos-Vargas, M., Castillo-Perez, I., Aomar-Millan, I., Anguita-Romero, M., Sanchez-Garcia, M. J., Sequero-Lopez, S., Faro-Miguez, N., Lopez-Fernandez, S., Leyva-Ferrer, R. N., Herrera-Gomez, N., Pertejo-Manzano, L., Perez-Gutierrez, E. M., Martin-de la Higuera, A. J., Plaza-Carrera, J., Baena-Garzon, F., Toledo-Frias, P., Cruz-Valero, I., Chacon-McWeeny, V., Gallardo-Sanchez, I., Arrebola, A., Guillen-Zafra, L., Ceballos-Torres, A., Guardia-Mancilla, P., Guirao-Arrabal, E., Canterero-Hinojosa, J., Velasco-Fuentes, S., Sanchez-Cano, D., Aguilar-Jaldo, M. D. P., Caballero-Borrego, J., Praznik, M., Slapsak, U., Voncina, B., Rajter, B., Skrinjar, A., Marjetic Ulcakar, A., Zidansek, A., Stegne Ignjatvic, T., Mazej Poredos, B., Vivod Pecnik, Z., Poplas Susic, T., Jutersek, M., Klen, J., Skoporc, J., Kotar, T., Petek Ster, M., Zvezdana Dernovsk, M., Mlinsek, G., Miklavcic, P., Plemenitas Iljes, A., Grasic Kuhar, C., Oblak, I., Strazisar, B., Strbac, D., Matos, E., Mencinger, M., Vrbnjak, M., Saje, M., Radovanovic, M., Jeras, K., Bukovec, L., Terzic, T., Minichmayr, I., Nanah, A., Nielsen, E., Zou, Y., Lauschke, V., Johansson, I., Zhou, Y., Nordling, A., Aigner, C., Dames-Ludwig, M., Monteforte, R., Sunder-Plassmann, R., Steinhauser, C., Sengoelge, G., Winnicki, W., Schmidt, A., Vasileios, F., Fontana, V., Hanson, A., Little, M., Hornby, R., Dello Russo, Cinzia, French, S., Hampson, J., Gumustekin, M., Anyfantis, G., Hampson, L., Lewis, D., Westhead, R., Prince, C., Rajasingam, A., Dello Russo C. (ORCID:0000-0002-2538-3832), Swen, J. J., van der Wouden, C. H., Manson, L. E., Abdullah-Koolmees, H., Blagec, K., Blagus, T., Bohringer, S., Cambon-Thomsen, A., Cecchin, E., Cheung, K. -C., Deneer, V. H., Dupui, M., Ingelman-Sundberg, M., Jonsson, S., Joefield-Roka, C., Just, K. S., Karlsson, M. O., Konta, L., Koopmann, R., Kriek, M., Lehr, T., Mitropoulou, C., Rial-Sebbag, E., Rollinson, V., Roncato, R., Samwald, M., Schaeffeler, E., Skokou, M., Schwab, M., Steinberger, D., Stingl, J. C., Tremmel, R., Turner, R. M., van Rhenen, M. H., Davila Fajardo, C. L., Dolzan, V., Patrinos, G. P., Pirmohamed, M., Sunder-Plassmann, G., Toffoli, G., Guchelaar, H. -J., Buunk, A., Goossens, H., Baas, G., Algera, M., Schuil-Vlassak, E., Ambagts, T., De Hoog-Schouten, L., Musaafir, S., Bosch, R., Tjong, C., Steeman, S., Van der Plas, M., Baldew, G., Den Hollander, I., De Waal, Z., Heijn, A., Nelemans, L., Kouwen-Lubbers, K., Van Leeuwen, M., Hoogenboom, S., Van Doremalen, J., Ton, C., Beetstra, B., Meijs, V., Dikken, J., Dubero, D., Slager, M., Houben, T., Kanis, T., Overmars, W., Nijenhuis, M., Steffens, M., Bergs, I., Karamperis, K., Siamoglou, S., Ivantsik, O., Samiou, G. -C., Kordou, Z., Tsermpini, E., Ferentinos, P., Karaivazoglou, A., Rigas, G., Gerasimou, H., Voukelatou, G., Georgila, E., Tsermpini, E. E., Mendrinou, E., Chalikiopoulou, K., Kolliopoulou, A., Mitropoulos, K., Stratopoulos, A., Liopetas, I., Tsikrika, A., Barba, E., Emmanouil, G., Stamopoulou, T., Stathoulias, A., Giannopoulos, P., Kanellakis, F., Bartsakoulia, M., Katsila, T., Douzenis, A., Gourzis, F., Assimakopoulos, K., Bignucolo, A., Dal Cin, L., Comello, F., Mezzalira, S., Puglisi, F., Spina, M., Foltran, L., Guardascione, M., Buonadonna, A., Bartoletti, M., Corsetti, S., Ongaro, E., Da Ros, L., Bolzonello, S., Spazzapan, S., Freschi, A., Di Nardo, P., Palazzari, E., Navarria, F., Innocente, R., Berretta, M., D'Andrea, M., Angelini, F., Diraimo, T., Favaretto, A., Davila-Fajardo, C. L., Diaz-Villamarin, X., Martinez-Gonzalez, L. J., Antunez-Rodriguez, A., Moreno-Escobar, E., Fernandez-Gonzalez, A. E., Garcia-Navas, P., Bautista-Paves, A. B. P., Burillo-Gomez, F., Villegas-Rodriguez, I., Sanchez-Ramos, J. G., Antolinos-Perez, M. J., Rivera, R., Martinez-Huertas, S., Thomas-, J., Carazo, J. J., Yanez-Sanchez, M. I., Blancas-Lopez-Navajas, R., Garcia-Orta, B., Gonzalez-Astorga, C. J., Rodriguez-Gonzalez, F. J., Ruiz-Carazo, M., Lopez-Perez, I., Cano-Herrera, R., Herrera, T., Gil-Jimenez, Delgado-Urena, M. T., Trivino-Juarez, J. M., Campos-Velazquez, S., Alcantara-Espadafor, S., Moreno Aguilar, M. R., Ontiveros-Ortega, M. C., Carnerero-Cordoba, L., Guerrero-Jimenez, M., Legeren-Alvarez, M., Yelamos-Vargas, M., Castillo-Perez, I., Aomar-Millan, I., Anguita-Romero, M., Sanchez-Garcia, M. J., Sequero-Lopez, S., Faro-Miguez, N., Lopez-Fernandez, S., Leyva-Ferrer, R. N., Herrera-Gomez, N., Pertejo-Manzano, L., Perez-Gutierrez, E. M., Martin-de la Higuera, A. J., Plaza-Carrera, J., Baena-Garzon, F., Toledo-Frias, P., Cruz-Valero, I., Chacon-McWeeny, V., Gallardo-Sanchez, I., Arrebola, A., Guillen-Zafra, L., Ceballos-Torres, A., Guardia-Mancilla, P., Guirao-Arrabal, E., Canterero-Hinojosa, J., Velasco-Fuentes, S., Sanchez-Cano, D., Aguilar-Jaldo, M. D. P., Caballero-Borrego, J., Praznik, M., Slapsak, U., Voncina, B., Rajter, B., Skrinjar, A., Marjetic Ulcakar, A., Zidansek, A., Stegne Ignjatvic, T., Mazej Poredos, B., Vivod Pecnik, Z., Poplas Susic, T., Jutersek, M., Klen, J., Skoporc, J., Kotar, T., Petek Ster, M., Zvezdana Dernovsk, M., Mlinsek, G., Miklavcic, P., Plemenitas Iljes, A., Grasic Kuhar, C., Oblak, I., Strazisar, B., Strbac, D., Matos, E., Mencinger, M., Vrbnjak, M., Saje, M., Radovanovic, M., Jeras, K., Bukovec, L., Terzic, T., Minichmayr, I., Nanah, A., Nielsen, E., Zou, Y., Lauschke, V., Johansson, I., Zhou, Y., Nordling, A., Aigner, C., Dames-Ludwig, M., Monteforte, R., Sunder-Plassmann, R., Steinhauser, C., Sengoelge, G., Winnicki, W., Schmidt, A., Vasileios, F., Fontana, V., Hanson, A., Little, M., Hornby, R., Dello Russo, Cinzia, French, S., Hampson, J., Gumustekin, M., Anyfantis, G., Hampson, L., Lewis, D., Westhead, R., Prince, C., Rajasingam, A., and Dello Russo C. (ORCID:0000-0002-2538-3832)

Abstract

Background: The benefit of pharmacogenetic testing before starting drug therapy has been well documented for several single gene–drug combinations. However, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel has not been rigorously assessed. Methods: We conducted an open-label, multicentre, controlled, cluster-randomised, crossover implementation study of a 12-gene pharmacogenetic panel in 18 hospitals, nine community health centres, and 28 community pharmacies in seven European countries (Austria, Greece, Italy, the Netherlands, Slovenia, Spain, and the UK). Patients aged 18 years or older receiving a first prescription for a drug clinically recommended in the guidelines of the Dutch Pharmacogenetics Working Group (ie, the index drug) as part of routine care were eligible for inclusion. Exclusion criteria included previous genetic testing for a gene relevant to the index drug, a planned duration of treatment of less than 7 consecutive days, and severe renal or liver insufficiency. All patients gave written informed consent before taking part in the study. Participants were genotyped for 50 germline variants in 12 genes, and those with an actionable variant (ie, a drug–gene interaction test result for which the Dutch Pharmacogenetics Working Group [DPWG] recommended a change to standard-of-care drug treatment) were treated according to DPWG recommendations. Patients in the control group received standard treatment. To prepare clinicians for pre-emptive pharmacogenetic testing, local teams were educated during a site-initiation visit and online educational material was made available. The primary outcome was the occurrence of clinically relevant adverse drug reactions within the 12-week follow-up period. Analyses were irrespective of patient adherence to the DPWG guidelines. The primary analysis was done using a gatekeeping analysis, in which outcomes in people with an actionable drug–gene interaction in the study group versus the

Published
2023

45. Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries (Preprint)

Author

Biasiotto, Roberta, primary, Viberg Johansson, Jennifer, additional, Alemu, Melaku Birhanu, additional, Romano, Virginia, additional, Bentzen, Heidi Beate, additional, Kaye, Jane, additional, Ancillotti, Mirko, additional, Blom, Johanna Maria Catharina, additional, Chassang, Gauthier, additional, Hallinan, Dara, additional, Jónsdóttir, Guðbjörg Andrea, additional, Monasterio Astobiza, Aníbal, additional, Rial-Sebbag, Emmanuelle, additional, Rodríguez-Arias, David, additional, Shah, Nisha, additional, Skovgaard, Lea, additional, Staunton, Ciara, additional, Tschigg, Katharina, additional, Veldwijk, Jorien, additional, and Mascalzoni, Deborah, additional

Published
2023
Full Text
View/download PDF

46. Incorporating ELSI as a core support for international genomic data access and sharing

Author

Goisauf, Melanie and Rial-Sebbag, Emmanuelle

Abstract

Health data collected in cohort studies are valuable sources for knowledge generation and the advance of biomedical research. However, the use of these data for research projects beyond the initial purpose raises several ethical, legal, and societal questions regarding the sensitivity of genomic data sourced from vulnerable and ethnic groups, such as African genetic data and material. Federated data infrastructures have become a key approach to make population-scale genomic and biomolecular data accessible across international borders. While the FAIR principles have become a guiding technical resource for data sharing, legal and socio-ethical considerations are equally important for a fair data ecosystem for further uses of genomic data. The Horizon 2020 project CINECA aims to provide a federated cloud-based infrastructure for the discovery, access, and analysis of human genetic and phenotypic data, based on a virtual cohort of 1.4 million individuals from 10 cohorts in Europe, Canada, and Africa. Beside technical solutions, CINECA addresses and provides valuable experience and input on essential ethical, legal, and societal implications and requirements for transnational health data access, sharing and secondary processing for research purposes.

Published
2023
Full Text
View/download PDF

47. CINECA D7.3 First recommendations for implementation in IT Framework (Incl. a Data Management Plan)

Author

Goisauf, Melanie, Fériol, Lisa, and Rial-Sebbag, Emmanuelle

Subjects
CINECA, biomedical research, ELSI, health data, GDPR, ethics, legal
Abstract

Health data collected in cohort studies are valuable sources for knowledge generation and the advance of biomedical research. However, the use of these data for research projects beyond the initial purpose raises several ethical, legal, technical, and societal questions. This deliverable addresses these challenges regarding reuse of health/genomic data in CINECA from the ethical, legal, and societal issues (ELSI) perspective and in the light of Open Science and FAIR principles. In responding to the requirements for an appropriate IT and governance framework for CINECA and beyond, the research presented in this document builds on a review of GDPR provisions and their institutional sources of interpretation as well as national laws, the corresponding legal, ethical, and social science literature, as well as stakeholder engagement workshops with patient representatives, African researchers, and co-creative exercises with CINECA technical experts. The core of this deliverable are the ethical and legal recommendations that take societal implications into account for data access to European, Canadian, and African cohorts. The recommendations address four key areas: (1) Engagement and benefit sharing as prerequisites for data sharing, (2) Informed consent and reuse of data, (3) Safeguards and respect for privacy, and (4) Further uses and data-access. The deliverable concludes with an outlook on relevant projects such as the European Health Data Space (EHDS) and upcoming ELSI developments regarding data reuse and artificial intelligence (AI).

Published
2023
Full Text
View/download PDF

48. Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape

Author

Kalokairinou, L., Howard, H. C., Slokenberga, S., Fisher, E., Flatscher-Thöni, M., Hartlev, M., van Hellemondt, R., Juškevičius, J., Kapelenska-Pregowska, J., Kováč, P., Lovrečić, L., Nys, H., de Paor, A., Phillips, A., Prudil, L., Rial-Sebbag, E., Romeo Casabona, C. M., Sándor, J., Schuster, A., Soini, S., Søvig, K. H., Stoffel, D., Titma, T., Trokanas, T., and Borry, P.

Published
2017
Full Text
View/download PDF

49. CINECA First recommendations for implementation in IT Framework (Incl. a Data Management Plan) D7.3

Author

Goisauf, Melanie, Feriol, Lisa, and Rial-Sebbag, Emmanuelle

Subjects
ELSI, Privacy, Ethical, Data sharing, GDPR, Legal
Abstract

Health data collected in cohort studies are valuable sources for knowledge generation and the advance of biomedical research. However, the use of these data for research projects beyond the initial purpose raises several ethical, legal, technical, and societal questions. This deliverable addresses these challenges regarding reuse of health/genomic data in CINECA from the ethical, legal, and societal issues (ELSI) perspective and in the light of Open Science and FAIR principles. In responding to the requirements for an appropriate IT and governance framework for CINECA and beyond, the research presented in this document builds on a review of GDPR provisions and their institutional sources of interpretation as well as national laws, the corresponding legal, ethical, and social science literature, as well as stakeholder engagement workshops with patient representatives, African researchers, and co-creative exercises with CINECA technical experts. The core of this deliverable are the ethical and legal recommendations that take societal implications into account for data access to European, Canadian, and African cohorts. The recommendations address four key areas: (1) Engagement and benefit sharing as prerequisites for data sharing, (2) Informed consent and reuse of data, (3) Safeguards and respect for privacy, and (4) Further uses and data-access. The deliverable concludes with an outlook on relevant projects such as the European Health Data Space (EHDS) and upcoming ELSI developments regarding data reuse and artificial intelligence (AI).

Published
2022
Full Text
View/download PDF

50. Including all voices in international data-sharing governance

Author

Kaye, Jane, Terry, Sharon F., Juengst, Eric, Coy, Sarah, Harris, Jennifer R., Chalmers, Don, Dove, Edward S., Budin-Ljøsne, Isabelle, Adebamowo, Clement, Ogbe, Emilomo, Bezuidenhout, Louise, Morrison, Michael, Minion, Joel T., Murtagh, Madeleine J., Minari, Jusaku, Teare, Harriet, Isasi, Rosario, Kato, Kazuto, Rial-Sebbag, Emmanuelle, Marshall, Patricia, Koenig, Barbara, and Cambon-Thomsen, Anne

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results