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132 results on '"Rial-Sebbag, E."'

5. 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
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6. 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

9. Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2022), 30, 5, (493-495), 10.1038/s41431-021-01000-x)

Author

Forzano, F., Antonova, O., Clarke, A., de Wert, G., Hentze, S., Jamshidi, Y., Moreau, Y., Perola, M., Prokopenko, I., Read, A., Reymond, A., Stefansdottir, V., van El, C., Genuardi, M., Maurizio, G., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., Stefánsdottir, V., and Ulph, F.

Published
2022

10. Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ (European Journal of Human Genetics, (2022), 10.1038/s41431-022-01241-4)

Author

Forzano, F., Antonova, O., Clarke, A., de Wert, G., Hentze, S., Jamshidi, Y., Moreau, Y., Perola, M., Prokopenko, I., Read, A., Reymond, A., Stefansdottir, V., van El, C., Genuardi, M., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., and Ulph, F.

Published
2022

11. The sarcopenia and physical frailty in older people: multi-component treatment strategies (SPRINTT) project: description and feasibility of a nutrition intervention in community-dwelling older Europeans

Author

Jyvakorpi S. K., Ramel A., Strandberg T. E., Piotrowicz K., Blaszczyk-Bebenek E., Urtamo A., Rempe H. M., Geirsdottir O., Vagnerova T., Billot M., Larreur A., Savera G., Soriano G., Picauron C., Tagliaferri S., Sanchez-Puelles C., Cadenas V. S., Perl A., Tirrel L., Ohman H., Weling-Scheepers C., Ambrosi S., Costantini A., Pavelkova K., Klimkova M., Freiberger E., Jonsson P. V., Marzetti E., Pitkala K. H., Landi F., Calvani R., Bernabei R., Boni C., Brandi V., Broccatelli M., Celesti C., Cicchetti A., Collamati A., Coretti S., D'Angelo E., D'Elia M., Landi G., Lorenzi M., Mariotti L., Martone A. M., Ortolani E., Pafundi T., Picca A., Ruggeri M., Salini S., Tosato M., Vetrano D. L., Lattanzio F., Baldoni R., Bernabei S., Bonfigli A. R., Bustacchini S., Carrieri B., Cassetta L., Cherubini A., Cucchi M., Cucchieri G., Costantini A. R., Dell'Aquila G., Espinosa E., Fedecostante M., Fraternali R., Galeazzi R., Mengarelli A., Piomboni S., Posacki E., Severini E., Tregambe T., Trotta F., Maggio M., Lauretani F., Butto V., Fisichella A., Guareschi C., Longobucco Y., Di Bari M., Rodriguez-Manas L., Alamo S., Bouzon C. A., Gonzales Turin J., Zafra O. L. L., Picazo A. L., Sepulveda L. P., SanchezSanchez J. L., Puelles C. S., Aragones M. V., CruzJentoft A. J., Santos J. A., Alvarez-Nebreda L., JimenezJimenez N. F., Nozal J. M. -D., Montero-Errasquin B., Moreno B. P. B. P., Roldan-Plaza C., Vicente A. R. -D., Sanchez-Cadenas V., Sanchez-Castellano C., Sanchez-Garcia E., Vaquero-Pinto M. N., Topinkova E., Bautzka L., Blechova K., Gueye T., Juklickova I., Klbikova T., Krenkova J. J., Madlova P., Mejstrikova H., Melcova R., Michalkova H., Ryznarova I., Drastichova I., Hasalikova E., Hucko R., Jakub S., Janacova M., Kilmkova M., Parizkova M., Redrova M., Ruskova P. P., Sieber C. C., Auerswald T., Engel C., Franke A., Freibergen E., Freiheit U., Gotthardt S., Kampe K., Kob R., Kokott C., Kraska C., Meyer C., Reith V., Rempe H., Schoene D., Sieber G., Zielinski K., Anker S. D., Ebner N., Grutz R., von Haehling S., Schols A. M. W. J., Gosker H., Huysmans S., Quaaden S., Schols J. M., Smeets N., Stevens P., van de Bool C., Weling C., Strandberg T., Jyvakorpi S., Hallikas K., Herranen M., Huusko T., Hytonen L., Ikonen K., Karppi-Sjoblom A., Karvinen K., Kayhty M., Kindsted T., Landstrom E., Leirimaa S., Pitkala K., Punkka A., Saavalainen A. -M., Salo T., Sepa M., Sohlberg K., Vaatamoinen E., Venalainen S., Vanhanen H., Vellas B., Van Kan G. A., Biville V., Brigitte L., Cervera C., Cesari M., Champarnaud M., Cluzan C., Croizet M., Dardenne S., Dorard M., Dupuy C., Durand E., Faisant C., Fougere B., Girard P., Guyonnet S., Hoogendijk E., Mauroux R., Milhet A., Montel S., Ousset P. -J., Teguo M. T., Teysseyre B., Andrieu S., Blasimme A., Dray C., Rial-Sebbag E., Valet P., Dantoine T., Cardinaud N., Castelli M., Charenton-Blavignac M., Ciccolari-Micaldi C., Gayot C., Laubarie-Mouriet C., Marchesseau D., Mergans T., Nguyen T. B., Papon A., Ribet J., Saulinier I., Tchalla A., Rapp T., Sirven N., Skalska A., Blaszcyk E., Cwynar M., Czesak J., Fatyga P., Fedyk-Lukasik M., Grodzicki T., Jamrozik P., Janusz Z., Klimek E., Komoniewska S., Kret M., Ozog M., Parnicka A., Petitjean K., Pietrzyk A., Skalska-Dulinska B., Starzyk D., Szczerbinska K., Witkiewicz B., Wlodarczyk A., Sinclair A., Harris S., Ogborne A., Ritchie S., Sinclair C., Sinclair H., Bellary S., Worthington H., Derejczyk J., Roller-Wirnsberger R., Jonsson P., Bordes P., Arnaud S., Asbrand C., Bejuit R., Durand S., Flechsenhar K., Joly F., Lain R. L., Moncharmont M., Msihid J., Ndja A., Riche B., Weber A. C., Yuan J., Roubenoff R., Kortebein P., Miller R. R., Gorostiaga C., Belissa-Mathiot P., Hu H., Laigle L., Melchor I. M., Russel A., Bennecky M., Haws T., Joshi A., Philpott K., Walker A., Zia G., Giorgi S. D., Feletti L., Marchioro E., Mocci F., Varesio M. G., Cesario A., Cabin B., de Boer W. P., Ignaszewski C., Klingmann I., Vollenbroek-Hutten M., Hermens T., Jansen-Kosterink S., Tabak M., Blandin P., Coutard L., Lenzotti A. -M., Mokhtari H., Rodon N., RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, RS: CAPHRI - R1 - Ageing and Long-Term Care, Health Services Research, Handicap, Activité, Vieillissement, Autonomie, Environnement (HAVAE), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Clinicum, Department of General Practice and Primary Health Care, University of Helsinki, HUS Internal Medicine and Rehabilitation, Timo Strandberg / Principal Investigator, Department of Medicine, Helsinki University Hospital Area, Teachers' Academy, Jyvakorpi S.K., Ramel A., Strandberg T.E., Piotrowicz K., Blaszczyk-Bebenek E., Urtamo A., Rempe H.M., Geirsdottir O., Vagnerova T., Billot M., Larreur A., Savera G., Soriano G., Picauron C., Tagliaferri S., Sanchez-Puelles C., Cadenas V.S., Perl A., Tirrel L., Ohman H., Weling-Scheepers C., Ambrosi S., Costantini A., Pavelkova K., Klimkova M., Freiberger E., Jonsson P.V., Marzetti E., Pitkala K.H., Landi F., Calvani R., Bernabei R., Boni C., Brandi V., Broccatelli M., Celesti C., Cicchetti A., Collamati A., Coretti S., D'Angelo E., D'Elia M., Landi G., Lorenzi M., Mariotti L., Martone A.M., Ortolani E., Pafundi T., Picca A., Ruggeri M., Salini S., Tosato M., Vetrano D.L., Lattanzio F., Baldoni R., Bernabei S., Bonfigli A.R., Bustacchini S., Carrieri B., Cassetta L., Cherubini A., Cucchi M., Cucchieri G., Costantini A.R., Dell'Aquila G., Espinosa E., Fedecostante M., Fraternali R., Galeazzi R., Mengarelli A., Piomboni S., Posacki E., Severini E., Tregambe T., Trotta F., Maggio M., Lauretani F., Butto V., Fisichella A., Guareschi C., Longobucco Y., Di Bari M., Rodriguez-Manas L., Alamo S., Bouzon C.A., Gonzales Turin J., Zafra O.L.L., Picazo A.L., Sepulveda L.P., SanchezSanchez J.L., Puelles C.S., Aragones M.V., CruzJentoft A.J., Santos J.A., Alvarez-Nebreda L., JimenezJimenez N.F., Nozal J.M.-D., Montero-Errasquin B., Moreno B.P.B.P., Roldan-Plaza C., Vicente A.R.-D., Sanchez-Cadenas V., Sanchez-Castellano C., Sanchez-Garcia E., Vaquero-Pinto M.N., Topinkova E., Bautzka L., Blechova K., Gueye T., Juklickova I., Klbikova T., Krenkova J.J., Madlova P., Mejstrikova H., Melcova R., Michalkova H., Ryznarova I., Drastichova I., Hasalikova E., Hucko R., Jakub S., Janacova M., Kilmkova M., Parizkova M., Redrova M., Ruskova P.P., Sieber C.C., Auerswald T., Engel C., Franke A., Freibergen E., Freiheit U., Gotthardt S., Kampe K., Kob R., Kokott C., Kraska C., Meyer C., Reith V., Rempe H., Schoene D., Sieber G., Zielinski K., Anker S.D., Ebner N., Grutz R., von Haehling S., Schols A.M.W.J., Gosker H., Huysmans S., Quaaden S., Schols J.M., Smeets N., Stevens P., van de Bool C., Weling C., Strandberg T., Jyvakorpi S., Hallikas K., Herranen M., Huusko T., Hytonen L., Ikonen K., Karppi-Sjoblom A., Karvinen K., Kayhty M., Kindsted T., Landstrom E., Leirimaa S., Pitkala K., Punkka A., Saavalainen A.-M., Salo T., Sepa M., Sohlberg K., Vaatamoinen E., Venalainen S., Vanhanen H., Vellas B., Van Kan G.A., Biville V., Brigitte L., Cervera C., Cesari M., Champarnaud M., Cluzan C., Croizet M., Dardenne S., Dorard M., Dupuy C., Durand E., Faisant C., Fougere B., Girard P., Guyonnet S., Hoogendijk E., Mauroux R., Milhet A., Montel S., Ousset P.-J., Teguo M.T., Teysseyre B., Andrieu S., Blasimme A., Dray C., Rial-Sebbag E., Valet P., Dantoine T., Cardinaud N., Castelli M., Charenton-Blavignac M., Ciccolari-Micaldi C., Gayot C., Laubarie-Mouriet C., Marchesseau D., Mergans T., Nguyen T.B., Papon A., Ribet J., Saulinier I., Tchalla A., Rapp T., Sirven N., Skalska A., Blaszcyk E., Cwynar M., Czesak J., Fatyga P., Fedyk-Lukasik M., Grodzicki T., Jamrozik P., Janusz Z., Klimek E., Komoniewska S., Kret M., Ozog M., Parnicka A., Petitjean K., Pietrzyk A., Skalska-Dulinska B., Starzyk D., Szczerbinska K., Witkiewicz B., Wlodarczyk A., Sinclair A., Harris S., Ogborne A., Ritchie S., Sinclair C., Sinclair H., Bellary S., Worthington H., Derejczyk J., Roller-Wirnsberger R., Jonsson P., Bordes P., Arnaud S., Asbrand C., Bejuit R., Durand S., Flechsenhar K., Joly F., Lain R.L., Moncharmont M., Msihid J., Ndja A., Riche B., Weber A.C., Yuan J., Roubenoff R., Kortebein P., Miller R.R., Gorostiaga C., Belissa-Mathiot P., Hu H., Laigle L., Melchor I.M., Russel A., Bennecky M., Haws T., Joshi A., Philpott K., Walker A., Zia G., Giorgi S.D., Feletti L., Marchioro E., Mocci F., Varesio M.G., Cesario A., Cabin B., de Boer W.P., Ignaszewski C., Klingmann I., Vollenbroek-Hutten M., Hermens T., Jansen-Kosterink S., Tabak M., Blandin P., Coutard L., Lenzotti A.-M., Mokhtari H., Rodon N., Epidemiology and Data Science, APH - Aging & Later Life, and APH - Quality of Care

Subjects
0301 basic medicine, Gerontology, Sarcopenia, [SDV]Life Sciences [q-bio], Population, PROTEIN, RECOMMENDATIONS, law.invention, SUPPLEMENTATION, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Intervention (counseling), Cultural diversity, medicine, Nutrition counselling, Nutrition intervention, Humans, 030212 general & internal medicine, Medical prescription, education, Exercise, Aged, 2. Zero hunger, education.field_of_study, 030109 nutrition & dietetics, Frailty, business.industry, Settore MED/09 - MEDICINA INTERNA, ADULTS, medicine.disease, mobility, 3. Good health, Feasibility Studie, Malnutrition, SPRINTT, resistance exercise, muscle mass, Protein intake, 3121 General medicine, internal medicine and other clinical medicine, Feasibility Studies, Energy intake, Independent Living, business, Nutrition counseling, Research Paper, Human
Abstract

Aim To describe the methods and feasibility of the nutritional intervention carried out within the SPRINTT Randomized cotrolled trial. We also illustrate how nutrition interventionists identified participants at risk of malnutrition and the lessons learnt from the nutrition intervention. Findings SPRINTT nutrition intervention was well-received by the majority of the participants. It was mainly carried out using tailored nutrition counselling, but also other means of delivering the intervention were successfully used. Compared with a standard nutrition prescription, an individualized protocol to diagnose malnutrition and follow-up by tailored nutrition counselling helped achieve nutritional targets more effectively in spite of diversity of population in nutritional habits and in some cases reluctance to accept changes. Message The SPRINTT nutrition intervention was feasible and allowed flexibility to the varying needs and cultural differences of this heterogeneous population of frail, older Europeans. It may serve as a model to educate and improve nutrition among community-dwelling older people at risk of mobility limitations. Supplementary Information The online version contains supplementary material available at 10.1007/s41999-020-00438-4., Background The “Sarcopenia and Physical Frailty in Older People: Multicomponent Treatment Strategies” (SPRINTT) project sponsored a multi-center randomized controlled trial (RCT) with the objective to determine the effect of physical activity and nutrition intervention for prevention of mobility disability in community-dwelling frail older Europeans. We describe here the design and feasibility of the SPRINTT nutrition intervention, including techniques used by nutrition interventionists to identify those at risk of malnutrition and to carry out the nutrition intervention. Methods SPRINTT RCT recruited older adults (≥ 70 years) from 11 European countries. Eligible participants (n = 1517) had functional limitations measured with Short Physical Performance Battery (SPPB score 3–9) and low muscle mass as determined by DXA scans, but were able to walk 400 m without assistance within 15 min. Participants were followed up for up to 3 years. The nutrition intervention was carried out mainly by individual nutrition counseling. Nutrition goals included achieving a daily protein intake of 1.0–1.2 g/kg body weight, energy intake of 25–30 kcal/kg of body weight/day, and serum vitamin D concentration ≥ 75 mmol/L. Survey on the method strategies and feasibility of the nutrition intervention was sent to all nutrition interventionists of the 16 SPRINTT study sites. Results Nutrition interventionists from all study sites responded to the survey. All responders found that the SPRINTT nutrition intervention was feasible for the target population, and it was well received by the majority. The identification of participants at nutritional risk was accomplished by combining information from interviews, questionnaires, clinical and laboratory data. Although the nutrition intervention was mainly carried out using individual nutritional counselling, other assisting methods were used as appropriate. Conclusion The SPRINTT nutrition intervention was feasible and able to adapt flexibly to varying needs of this heterogeneous population. The procedures adopted to identify older adults at risk of malnutrition and to design the appropriate intervention may serve as a model to deliver nutrition intervention for community-dwelling older people with mobility limitations. Supplementary Information The online version contains supplementary material available at 10.1007/s41999-020-00438-4.

Published
2021

13. Erratum to ‘Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group’: [Annals of Oncology 30 (2019) 1221–1231]

Author

Mandelker, D., Donoghue, M., Talukdar, S., Bandlamudi, C., Srinivasan, P., Vivek, M., Jezdic, S., Hanson, H., Snape, K., Kulkarni, A., Hawkes, L., Douillard, J.-Y., Wallace, S.E., Rial-Sebbag, E., Meric-Bersntam, F., George, A., Chubb, D., Loveday, C., Ladanyi, M., Berger, M.F., Taylor, B.S., and Turnbull, C.

Published
2021
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14. Country Reports: the United Kingdom

Author

Zawati, MH, Chalmers, D, Dallari, SG, de Neiva Borba, M, Pinkesz, M, Joly, Y, Chen, H, Hartlev, M, Leitsalu, L, Soini, S, Rial-Sebbag, E, Hoppe, N, Garani-Papadatos, T, Vidalis, P, Srinivas, KR, Siegal, G, Negri, S, Hatanaka, R, Al-Hussaini, M, Al-Tabba', A, Motta-Murgía, L, Moran, LET, Hendriks, A, Nnamuchi, O, Isasi, R, Krekora-Zajac, D, Sadoun, E, Ho, C, Andanda, P, Lee, WB, Nicolás, P, Mattsson, T, Talanova, V, Dosch, A, Sprumont, D, Fan, C-T, Hung, T-H, Kaye, J, Phillips, A, Gowans, H, Shah, N, and Hazel, JW

Published
2020

15. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Author

Fellmann, F., van El, C.G., Charron, P., Michaud, K., Howard, H.C., Boers, S.N., Clarke, A.J., Duguet, A.M., Forzano, F., Kauferstein, S., Kayserili, H., Lucassen, A., Mendes, Á., Patch, C., Radojkovic, D., Rial-Sebbag, E., Sheppard, M.N., Tassé, A.M., Temel, S.G., Sajantila, A., Basso, C., Wilde, AAM, Cornel, M.C., and on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology

Subjects
Autopsy, Death, Sudden, Cardiac/epidemiology, Death, Sudden, Cardiac/pathology, Death, Sudden, Cardiac/prevention & control, European Union/organization & administration, Genetic Testing/standards, Heart Diseases/genetics, Heart Diseases/mortality, Heart Diseases/pathology, Humans, Myocardium/pathology
Abstract

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.

Published
2019

16. MeDALL (Mechanisms of the Development of ALLergy): an integrated approach from phenotypes to systems medicine

Author

Bousquet, J., Anto, J., Auffray, C., Akdis, M., Cambon-Thomsen, A., Keil, T., Haahtela, T., Lambrecht, B. N., Postma, D. S., Sunyer, J., Valenta, R., Akdis, C. A., Annesi-Maesano, I., Arno, A., Bachert, C., Ballester, F., Basagana, X., Baumgartner, U., Bindslev-Jensen, C., Brunekreef, B., Carlsen, K. H., Chatzi, L., Crameri, R., Eveno, E., Forastiere, F., Garcia-Aymerich, J., Guerra, S., Hammad, H., Heinrich, J., Hirsch, D., Jacquemin, B., Kauffmann, F., Kerkhof, M., Kogevinas, M., Koppelman, G. H., Kowalski, M. L., Lau, S., Lodrup-Carlsen, K. C., Lopez-Botet, M., Lotvall, J., Lupinek, C., Maier, D., Makela, M. J., Martinez, F. D., Mestres, J., Momas, I., Nawijn, M. C., Neubauer, A., Oddie, S., Palkonen, S., Pin, I., Pison, C., Rancé, F., Reitamo, S., Rial-Sebbag, E., Salapatas, M., Siroux, V., Smagghe, D., Torrent, M., Toskala, E., van Cauwenberge, P., van Oosterhout, A. J. M., Varraso, R., von Hertzen, L., Wickman, M., Wijmenga, C., Worm, M., Wright, J., and Zuberbier, T.

Published
2011
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19. Including all voices in international data-sharing governance

Author

Kaye, J, Terry, SF, Juengst, E, Coy, S, Harris, JR, Chalmers, D, Dove, ES, Budin-Ljøsne, I, Adebamowo, C, Ogbe, E, Bezuidenhout, LM, Morrison, M, Minion, JT, Murtagh, MJ, Minari, J, Teare, H, Isasi, R, Kato, K, Rial-Sebbag, E, Marshall, P, Koenig, B, and Cambon-Thomsen, A

Subjects
Inclusion, Governance, Biomedical Research, lcsh:QH426-470, CHALLENGES, Information Dissemination, REDUCING WASTE, lcsh:R, INCREASING VALUE, lcsh:Medicine, Social Sciences, Opinion Article, Science General, POLICY, Public engagement, lcsh:Genetics, Government, Humans, Data sharing, Digital technologies, GENOMICS, International research
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 decisionmaking. 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

21. Responsible innovation in human germline gene editing : Background document to the recommendations of ESHG and ESHRE

Author

De Wert, G., Heindryckx, B., Pennings, G., Clarke, A., Eichenlaub-Ritter, U., van El, Carla G., Forzano, F., Goddijn, M., Howard, Heidi C., Radojkovic, D., Rial-Sebbag, E., Dondorp, W., Tarlatzis, B. C., Cornel, M. C., De Wert, G., Heindryckx, B., Pennings, G., Clarke, A., Eichenlaub-Ritter, U., van El, Carla G., Forzano, F., Goddijn, M., Howard, Heidi C., Radojkovic, D., Rial-Sebbag, E., Dondorp, W., Tarlatzis, B. C., and Cornel, M. C.

Abstract

Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations. Germline gene editing is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if germline gene editing would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique could help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? This Background document summarizes the scientific developments and expectations regarding germline gene editing, legal regulations at the European level, and ethics for three different settings (basic research, preclinical research and clinical applications). In ethical terms, we argue that the deontological objections (e.g., gene editing goes against nature) do not seem convincing while consequentialist objections (e.g., safety for the children thus conceived and following generations) require research, not all of which is allowed in the current legal situation in European countries. Development of this Background document and Recommendations reflects the responsibility to help society understand and debate the full range of possible implications of the new technologies, and to contribute to regulations that are adapted to the dynamics of the field while taking account of ethical considerations and societal concerns.

Published
2018
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22. Legislation of direct-to-consumer genetic testing in Europe: : a fragmented regulatory landscape

Author

Kalokairinou, L, Howard, Heidi Carmen, Slokenberga, Santa, 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, CM, Sándor, J, Schuster, A, Soini, S, Søvig, KH, Stoffel, D, Titma, T, Trokanas, R, Borry, P, Kalokairinou, L, Howard, Heidi Carmen, Slokenberga, Santa, 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, CM, Sándor, J, Schuster, A, Soini, S, Søvig, KH, Stoffel, D, Titma, T, Trokanas, R, and Borry, P

Abstract

Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom. Emphasis is placed on provisions relating to medical supervision, genetic counselling and informed consent. Our results indicate that currently there is a wide spectrum of laws regarding genetic testing in Europe. There are countries (e.g. France and Germany) which essentially ban DTC genetic testing, while in others (e.g. Luxembourg and Poland) DTC genetic testing may only be restricted by general laws, usually regarding health care services and patients’ rights., This article is part of the Topical Collection on Citizen’s Health throughpublic-private Initiatives: Public health, Market and Ethical perspectives.

Published
2018
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23. One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans

Author

Howard, Heidi Carmen, van El, Carla G., Forzano, Francesca, Radojkovic, D., Rial-Sebbag, E., de Wert, G., Borry, P., Cornel, M. C., Howard, Heidi Carmen, van El, Carla G., Forzano, Francesca, Radojkovic, D., Rial-Sebbag, E., de Wert, G., Borry, P., and Cornel, M. C.

Abstract

Gene editing, which allows for specific location(s) in the genome to be targeted and altered by deleting, adding or substituting nucleotides, is currently the subject of important academic and policy discussions. With the advent of efficient tools, such as CRISPR-Cas9, the plausibility of using gene editing safely in humans for either somatic or germ line gene editing is being considered seriously. Beyond safety issues, somatic gene editing in humans does raise ethical, legal and social issues (ELSI), however, it is suggested to be less challenging to existing ethical and legal frameworks; indeed somatic gene editing is already applied in (pre-) clinical trials. In contrast, the notion of altering the germ line or embryo such that alterations could be heritable in humans raises a large number of ELSI; it is currently debated whether it should even be allowed in the context of basic research. Even greater ELSI debates address the potential use of germ line or embryo gene editing for clinical purposes, which, at the moment is not being conducted and is prohibited in several jurisdictions. In the context of these ongoing debates surrounding gene editing, we present herein guidance to further discussion and investigation by highlighting three crucial areas that merit the most attention, time and resources at this stage in the responsible development and use of gene editing technologies: (1) conducting careful scientific research and disseminating results to build a solid evidence base; (2) conducting ethical, legal and social issues research; and (3) conducting meaningful stakeholder engagement, education and dialogue., On behalf of the Public and Professional Policy Committee of the European Society of Human Genetics

Published
2018
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24. Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape

Author

Derecho publico, Zuzenbide publikoa, 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, Carlos María, Sándor, J., Schuster, A., Soini, S., Søvig, K. H., Stoffel, D., Titma, T., Trokanas, T., Borr, P., Derecho publico, Zuzenbide publikoa, 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, Carlos María, Sándor, J., Schuster, A., Soini, S., Søvig, K. H., Stoffel, D., Titma, T., Trokanas, T., and Borr, P.

Abstract

Despite the increasing availability of direct-to-c onsumer (DTC)genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom. Emphasis is placed on provisions relating to medical supervision, genetic counselling and informed consent. Our results indicate that currently there is a wide spectrum of laws regarding genetic testing in Europe. There are countries (e.g. France and Germany) which essentially ban DTC genetic testing, while in others (e.g. Luxembourg and Poland) DTC genetic testing may only be restricted by general laws, usually regarding health care services and patients' rights.

Published
2018

25. Legislation of Direct-to-Consumer Genetic Testing in Europe:A Fragmented Regulatory Landscape

Author

Kalokairinou, Louiza, Howard, Heidi C, Slokenberga, Santa, Romeo-Casabona, Carlos María, Fischer, Eva, Flatscher-Thöni, Magdalena, Hartlev, Mette, Hellemondt, R. van, Juskevicius, J., Kapelenska-Pregowska, J., Kovac, P., Lovrecic, L., Nys, H., de Paor, A., Phillips, A., Prudil, L., Rial-Sebbag, E., Casabona, C.M. Romeo, Sandor, J., Schuster, A., Soini, S., Søvig, K.H., Stoffel, D., Titma, T., Trokanas, T., Borry, P., Kalokairinou, Louiza, Howard, Heidi C, Slokenberga, Santa, Romeo-Casabona, Carlos María, Fischer, Eva, Flatscher-Thöni, Magdalena, Hartlev, Mette, Hellemondt, R. van, Juskevicius, J., Kapelenska-Pregowska, J., Kovac, P., Lovrecic, L., Nys, H., de Paor, A., Phillips, A., Prudil, L., Rial-Sebbag, E., Casabona, C.M. Romeo, Sandor, J., Schuster, A., Soini, S., Søvig, K.H., Stoffel, D., Titma, T., Trokanas, T., and Borry, P.

Abstract

Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom. Emphasis is placed on provisions relating to medical supervision, genetic counselling and informed consent. Our results indicate that currently there is a wide spectrum of laws regarding genetic testing in Europe. There are countries (e.g. France and Germany) which essentially ban DTC genetic testing, while in others (e.g. Luxembourg and Poland) DTC genetic testing may only be restricted by general laws, usually regarding health care services and patients' rights.

Published
2018

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

Author

Anto, J.M., Bousquet, J., Akdis, M., Auffray, C., Keil, T., Momas, I., Postma, D.S., Valenta, R., Wickman, M., Cambon-Thomsen, A., Haahtela, T., Lambrecht, B.N., Lodrup Carlsen, K.C., Koppelman, G.H., Sunyer, J., Zuberbier, T., Annesi-Maesano, I., Arno, A., Bindslev-Jensen, C., De Carlo, G., Forastiere, F., Heinrich, J., Kowalski, M.L., Maier, D., Melén, E., Smit, H.A., Standl, M., Wright, J., Asarnoj, A., Benet, M., Ballardini, N., Garcia-Aymerich, J., Gehring, U., Guerra, S., Hohmann, C., Kull, I., Lupinek, C., Pinart, M., Skrindo, I., Westman, M., Smagghe, D., Akdis, C., Andersson, N., Bachert, C., Ballereau, S., Ballester, F., Basagana, X., Bedbrook, A., Bergstrom, A., von Berg, A., Brunekreef, B., Burte, E., Carlsen, K.-H., Chatzi, L., Coquet, J.M., Curin, M., Demoly, P., Eller, E., Fantini, M.P., von Hertzen, L., Hovland, V., Jacquemin, B., Just, J., Keller, T., Kiss, R., Kogevinas, M., Koletzko, S., Lau, S., Lehmann, Irina, Lemonnier, N., Mäkelä, M., Mestres, J., Mowinckel, P., Nadif, R., Nawijn, M.C., Pellet, J., Pin, I., Porta, D., Rancière, F., Rial-Sebbag, E., Saeys, Y., Schuijs, M.J., Siroux, V., Tischer, C.G., Torrent, M., Varraso, R., Wenzel, K., Xu, C.-J., Anto, J.M., Bousquet, J., Akdis, M., Auffray, C., Keil, T., Momas, I., Postma, D.S., Valenta, R., Wickman, M., Cambon-Thomsen, A., Haahtela, T., Lambrecht, B.N., Lodrup Carlsen, K.C., Koppelman, G.H., Sunyer, J., Zuberbier, T., Annesi-Maesano, I., Arno, A., Bindslev-Jensen, C., De Carlo, G., Forastiere, F., Heinrich, J., Kowalski, M.L., Maier, D., Melén, E., Smit, H.A., Standl, M., Wright, J., Asarnoj, A., Benet, M., Ballardini, N., Garcia-Aymerich, J., Gehring, U., Guerra, S., Hohmann, C., Kull, I., Lupinek, C., Pinart, M., Skrindo, I., Westman, M., Smagghe, D., Akdis, C., Andersson, N., Bachert, C., Ballereau, S., Ballester, F., Basagana, X., Bedbrook, A., Bergstrom, A., von Berg, A., Brunekreef, B., Burte, E., Carlsen, K.-H., Chatzi, L., Coquet, J.M., Curin, M., Demoly, P., Eller, E., Fantini, M.P., von Hertzen, L., Hovland, V., Jacquemin, B., Just, J., Keller, T., Kiss, R., Kogevinas, M., Koletzko, S., Lau, S., Lehmann, Irina, Lemonnier, N., Mäkelä, M., Mestres, J., Mowinckel, P., Nadif, R., Nawijn, M.C., Pellet, J., Pin, I., Porta, D., Rancière, F., Rial-Sebbag, E., Saeys, Y., Schuijs, M.J., Siroux, V., Tischer, C.G., Torrent, M., Varraso, R., Wenzel, K., and Xu, C.-J.

Abstract

Asthma, rhinitis, and eczema are complex diseases with multiple genetic and environmental factors interlinked through IgE-associated and non–IgE-associated mechanisms. Mechanisms of the Development of ALLergy (MeDALL; EU FP7-CP-IP; project no: 261357; 2010-2015) studied the complex links of allergic diseases at the clinical and mechanistic levels by linking epidemiologic, clinical, and mechanistic research, including in vivo and in vitro models. MeDALL integrated 14 European birth cohorts, including 44,010 participants and 160 cohort follow-ups between pregnancy and age 20 years. Thirteen thousand children were prospectively followed after puberty by using a newly standardized MeDALL Core Questionnaire. A microarray developed for allergen molecules with increased IgE sensitivity was obtained for 3,292 children. Estimates of air pollution exposure from previous studies were available for 10,000 children. Omics data included those from historical genome-wide association studies (23,000 children) and DNA methylation (2,173), targeted multiplex biomarker (1,427), and transcriptomic (723) studies. Using classical epidemiology and machine-learning methods in 16,147 children aged 4 years and 11,080 children aged 8 years, MeDALL showed the multimorbidity of eczema, rhinitis, and asthma and estimated that only 38% of multimorbidity was attributable to IgE sensitization. MeDALL has proposed a new vision of multimorbidity independent of IgE sensitization, and has shown that monosensitization and polysensitization represent 2 distinct phenotypes. The translational component of MeDALL is shown by the identification of a novel allergic phenotype characterized by polysensitization and multimorbidity, which is associated with the frequency, persistence, and severity of allergic symptoms. The results of MeDALL will help integrate personalized, predictive, preventative, and participatory approaches in allergic diseases.

Published
2017

27. Consent for Biobanking: The Legal Frameworks of Countries in the BioSHaRE-EU Project

Author

Kaye J, Briceño Moraia L, Curren L, Bell J, Colin Mitchell, Soini S, Hoppe N, Øien M, Rial-Sebbag E, Doctoral Programme in Law, and Faculty of Law

Subjects
Biomedical Research, research ethics, Article, medical research, Consent Forms, biobanking, ddc:590, Germany, legislation and jurisprudence, organization and management, Humans, ddc:610, human, European Union, law, legal service, health care economics and organizations, Finland, Biological Specimen Banks, Netherlands, 318 Medical biotechnology, Norway, informed consent, professional standard, 513 Law, legal procedure, Original Articles, landscape, humanities, United Kingdom, biobank, priority journal, France, Ethics Committees, Research
Abstract

Currently, there is no single, Europe-wide regulation of biomedical research using human samples and data. Instead, the law that applies spans a number of areas of law, such as data protection, clinical trials, and tissue regulation. In the absence of harmonized regulation, there is considerable scope for national legal variation. This article analyzes the legislative frameworks that apply to biobanking activities to identify differences in legal requirements between the BioSHaRE-EU project countries: Finland, France, Germany, the Netherlands, Norway, and the United Kingdom. This article highlights the primary role of consent and accompanying governance mechanisms, such as research ethics committee oversight, which enable consent exemptions in the context of research. Our analysis identifies a complicated legal landscape, whereby broadly similar provisions are contained in varied sources of law in each jurisdiction. The challenge for researchers is locating the applicable legal provisions within each national legal framework.

Published
2016

28. Pooling birth cohorts in allergy and asthma: European union-funded initiatives-a MeDALL, CHICOS, ENRIECO, and GALEN joint paper: CHICOS study group ENRIECO study group GA2LEN study group

Author

Bousquet, Jean, Anto, Josep, Sunyer, Jordi, Nieuwenhuijsen, Mark, Vrijheid, Martine, Keil, Thomas, Akdis, M., Auffray, C., Postma, D. S., Valenta, R., Haahtela, T., Cambon-Thomsen, A., Lambrecht, B. N., Akdis, C. A., Annesi-Maesano, I., Arno, A., Bachert, C., Ballester, F., Basagana, X., Baumgartner, U., Bindslev-Jensen, C., Brunekreef, B., Chatzi, L., Eller, E., Forastiere, F., Garcia-Aymerich, J., Guerra, S., Gehring, U., Hammad, H., Heinrich, J., Hohmann, C., Kauffmann, F., Kerkhof, M., Kogevinas, M., Koppelman, G. H., Kowalski, M. L., Kull, I., Lau, S., Lodrup-Carlsen, K. C., Lupinek, C., Maier, D., Makela, M. J., Martinez, F. D., Momas, I., Nawijn, M. C., Neubauer, A., Oddie, S., Palkonen, S., Reitamo, S., Rial-Sebbag, E., Salapatas, M., Siroux, V., Smagghe, D., Smit, H. A., Torrent, M., Toskala, E., van Oosterhout, A. J. M., Varaso, R., von Hertzen, L., Wickman, M., Wijmenga, C., Zuberbier, T., Burney, P. G., Van Cauwenberge, P., Bonini, S., Fokkens, W. J., Kramer, U., Mullol, J., Nizankowska-Mogilnicka, E., Papadopoulos, N., Alm, B., Alm, J., Arshad, S. H., Bravi, F., Canonica, G. W., Custovic, A., Dubakiene, R., Fantini, M. P., Gjomarkaj, M., Halken, S., Host, A., Howarth, P., Kuehni, C., Lotvall, J., Mommers, M., Porta, D., Radon, K., Ring, J., Roberts, G., Schünemann, H. J., Simpson, A., Szczecklik, A., Thijs, C., Todo-Bom, A., Valovirta, E., van Steen, K., Von Berg, A., von Mutius, E., Wahn, U., Wennergren, G., Wijga, A. H., Zock, J. P., Duijts, L., Jaddoe, V., Lawlor, D., Lucas, P., Magnus, P., Merletti, F., Nybo Andersen, A. M., Raat, H., Stoltenberg, C., Casas, M., Bergström, A., Carmichael, A., Chen, C. -M., Cordier, S., Eggesbø, M., Fernández, M. F., Fernández-Somoano, A., Grazuleviciene, R., Karvonen, A. M., Koppen, G., Krämer, U., Kuehni, C. E., Majewska, R., Patelarou, E., Skaalum Petersen, M., Pierik, F. H., Polanska, K., Richiardi, L., Santos, A. C., Slama, R., Sram, R. J., Tischer, C., Toft, G., Trnovec, T., Vandentorren, S., Vardavas, C., Vrijkotte, T. G. M., Wilhelm, M., Bousquet, Jean, Anto, Josep, Sunyer, Jordi, Nieuwenhuijsen, Mark, Vrijheid, Martine, Keil, Thoma, Akdis, M., Auffray, C., Postma, D.S., Valenta, R., Haahtela, T., Cambon-Thomsen, A., Lambrecht, B.N., Akdis, C.A., Annesi-Maesano, I., Arno, A., Bachert, C., Ballester, F., Basagana, X., Baumgartner, U., Bindslev-Jensen, C., Brunekreef, B., Chatzi, L., Eller, E., Forastiere, F., Garcia-Aymerich, J., Guerra, S., Gehring, U., Hammad, H., Heinrich, J., Hohmann, C., Kauffmann, F., Kerkhof, M., Kogevinas, M., Koppelman, G.H., Kowalski, M.L., Kull, I., Lau, S., Lodrup-Carlsen, K.C., Lupinek, C., Maier, D., Makela, M.J., Martinez, F.D., Momas, I., Nawijn, M.C., Neubauer, A., Oddie, S., Palkonen, S., Reitamo, S., Rial-Sebbag, E., Salapatas, M., Siroux, V., Smagghe, D., Smit, H.A., Torrent, M., Toskala, E., van Oosterhout, A.J.M., Varaso, R., von Hertzen, L., Wickman, M., Wijmenga, C., Zuberbier, T., Burney, P.G., Van Cauwenberge, P., Bonini, S., Fokkens, W.J., Kramer, U., Mullol, J., Nizankowska-Mogilnicka, E., Papadopoulos, N., Alm, B., Alm, J., Arshad, S.H., Bravi, F., Canonica, G.W., Custovic, A., Dubakiene, R., Fantini, M.P., Gjomarkaj, M., Halken, S., Host, A., Howarth, P., Kuehni, C., Lotvall, J., Mommers, M., Porta, D., Radon, K., Ring, J., Roberts, G., Schünemann, H.J., Simpson, A., Szczecklik, A., Thijs, C., Todo-Bom, A., Valovirta, E., van Steen, K., Von Berg, A., von Mutius, E., Wahn, U., Wennergren, G., Wijga, A.H., Zock, J.P., Duijts, L., Jaddoe, V., Lawlor, D., Lucas, P., Magnus, P., Merletti, F., Nybo Andersen, A.M., Raat, H., Stoltenberg, C., Casas, M., Bergström, A., Carmichael, A., Chen, C.-M., Cordier, S., Eggesbø, M., Fernández, M.F., Fernández-Somoano, A., Grazuleviciene, R., Karvonen, A.M., Koppen, G., Krämer, U., Kuehni, C.E., Majewska, R., Patelarou, E., Skaalum Petersen, M., Pierik, F.H., Polanska, K., Richiardi, L., Santos, A.C., Slama, R., Sram, R.J., Tischer, C., Toft, G., Trnovec, T., Vandentorren, S., Vardavas, C., Vrijkotte, T.G.M., and Wilhelm, M.

Subjects
Allergy, Risk Factor, Immunology, CHICOS, Longitudinal Studie, Environmental Exposure, Asthma, Europe, MeDALL, ENRIECO, Hypersensitivity, Multicenter Studies as Topic, Immunology and Allergy, European Union, Cohort Studie, Birth cohort, Human
Abstract

Long-term birth cohort studies are essential to understanding the life course and childhood predictors of allergy and the complex interplay between genes and the environment (including lifestyle and socioeconomic determinants). Over 100 cohorts focusing on asthma and allergy have been initiated in the world over the past 30 years. Since 2004, several research initiatives funded under the EU Framework Program for Research and Technological Development FP6-FP7 have attempted to identify, compare, and evaluate pooling data from existing European birth cohorts (GA2LEN: Global Allergy and European Network, FP6; ENRIECO: Environmental Health Risks in European Birth Cohorts, FP7; CHICOS: Developing a Child Cohort Research Strategy for Europe, FP7; MeDALL: Mechanisms of the Development of ALLergy, FP7). However, there is a general lack of knowledge about these initiatives and their potentials. The aim of this paper is to review current and past EU-funded projects in order to make a summary of their goals and achievements and to suggest future research needs of these European birth cohort networks. © 2012 S. Karger AG, Basel.

Published
2013

29. Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?

Author

Budin-Ljosne, I, Mascalzoni, D, Soini, S, Machado, H, Kaye, J, Bentzen, HB, Rial-Sebbag, E, D'Abramo, F, Witt, M, Schamps, G, Katic, V, Krajnovic, D, Harris, JR, Budin-Ljosne, I, Mascalzoni, D, Soini, S, Machado, H, Kaye, J, Bentzen, HB, Rial-Sebbag, E, D'Abramo, F, Witt, M, Schamps, G, Katic, V, Krajnovic, D, and Harris, JR

Abstract

BACKGROUND: There is growing consensus that individual genetic research results that are scientifically robust, analytically valid, and clinically actionable should be offered to research participants. However, the general practice in European research projects is that results are usually not provided to research participants for many reasons. This article reports on the views of European experts and scholars who are members of the European COST Action CHIP ME IS1303 (Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives) regarding challenges to the feedback of individual genetic results to research participants in Europe and potential strategies to address these challenges. MATERIALS AND METHODS: A consultation of the COST Action members was conducted through an email survey and a workshop. The results from the consultation were analyzed following a conventional content analysis approach. RESULTS: Legal frameworks, professional guidelines, and financial, organizational, and human resources to support the feedback of results are largely missing in Europe. Necessary steps to facilitate the feedback process include clarifying legal requirements to the feedback of results, developing harmonized European best practices, promoting interdisciplinary and cross-institutional collaboration, designing educational programs and cost-efficient IT-based platforms, involving research ethics committees, and documenting the health benefits and risks of the feedback process. CONCLUSIONS: Coordinated efforts at pan-European level are needed to enable equitable, scientifically sound, and socially robust feedback of results to research participants.

Published
2016

30. Consent for Biobanking: The Legal Frameworks of Countries in the BioSHaRE-EU Project

Author

Kaye, J, Moraia, LB, Curren, L, Bell, J, Mitchell, C, Soini, S, Hoppe, N, Oien, M, Rial-Sebbag, E, Kaye, J, Moraia, LB, Curren, L, Bell, J, Mitchell, C, Soini, S, Hoppe, N, Oien, M, and Rial-Sebbag, E

Abstract

Currently, there is no single, Europe-wide regulation of biomedical research using human samples and data. Instead, the law that applies spans a number of areas of law, such as data protection, clinical trials, and tissue regulation. In the absence of harmonized regulation, there is considerable scope for national legal variation. This article analyzes the legislative frameworks that apply to biobanking activities to identify differences in legal requirements between the BioSHaRE-EU project countries: Finland, France, Germany, the Netherlands, Norway, and the United Kingdom. This article highlights the primary role of consent and accompanying governance mechanisms, such as research ethics committee oversight, which enable consent exemptions in the context of research. Our analysis identifies a complicated legal landscape, whereby broadly similar provisions are contained in varied sources of law in each jurisdiction. The challenge for researchers is locating the applicable legal provisions within each national legal framework.

Published
2016

31. The role of a bioresource research impact factor as an incentive to share human bioresources

Author

Cambon-Thomsen, A., Thorisson, G.A., Mabile, L., Andrieu, S., Bertier, G., Boeckhout, M., Carpenter, J., Dagher, G., Dalgleish, R., Deschênes, M., di Donato, J.H., Filocamo, M., Goldberg, M., Hewitt, R., Hofman, P., Kauffmann, F., Leitsalu, L., Lomba, I., Melegh, B., Metspalu, A., Miranda, L., Napolitani, F., Oestergaard, M.Z., Parodi, B., Pasterk, M., Reiche, A., Rial-Sebbag, E., Rivalle, G., Rochaix, P., Susbielle, G., Tarasova, L., Thomsen, M., Zawati, M.H., Zins, M., and ASCA (FGw)

Subjects
Motivation, 0303 health sciences, Knowledge management, Impact factor, Information Dissemination, business.industry, Research, MEDLINE, Congresses as Topic, Biology, 03 medical and health sciences, 0302 clinical medicine, Incentive, 030220 oncology & carcinogenesis, Genetics, Humans, business, 030304 developmental biology
Abstract

A letter to the editor is presented in response to article which discusses the role of the bioresource research's impact as an encouragement to share human data such as bioresources.

Published
2011

32. MeDALL (Mechanisms of the Development of ALLergy): an integrated approach from phenotypes to systems medicine

Author

Bousquet, J. Anto, J. Auffray, C. Akdis, M. and Cambon-Thomsen, A. Keil, T. Haahtela, T. Lambrecht, B. N. and Postma, D. S. Sunyer, J. Valenta, R. Akdis, C. A. and Annesi-Maesano, I. Arno, A. Bachert, C. Ballester, F. and Basagana, X. Baumgartner, U. Bindslev-Jensen, C. Brunekreef, B. Carlsen, K. H. Chatzi, L. Crameri, R. Eveno, E. and Forastiere, F. Garcia-Aymerich, J. Guerra, S. Hammad, H. and Heinrich, J. Hirsch, D. Jacquemin, B. Kauffmann, F. and Kerkhof, M. Kogevinas, M. Koppelman, G. H. Kowalski, M. L. and Lau, S. Lodrup-Carlsen, K. C. Lopez-Botet, M. Lotvall, J. Lupinek, C. Maier, D. Makela, M. J. Martinez, F. D. and Mestres, J. Momas, I. Nawijn, M. C. Neubauer, A. and Oddie, S. Palkonen, S. Pin, I. Pison, C. Rance, F. and Reitamo, S. Rial-Sebbag, E. Salapatas, M. Siroux, V. and Smagghe, D. Torrent, M. Toskala, E. van Cauwenberge, P. and van Oosterhout, A. J. M. Varraso, R. von Hertzen, L. and Wickman, M. Wijmenga, C. Worm, M. Wright, J. Zuberbier, T.

Abstract

P>The origin of the epidemic of IgE-associated (allergic) diseases is unclear. MeDALL (Mechanisms of the Development of ALLergy), an FP7 European Union project (No. 264357), aims to generate novel knowledge on the mechanisms of initiation of allergy and to propose early diagnosis, prevention, and targets for therapy. A novel phenotype definition and an integrative translational approach are needed to understand how a network of molecular and environmental factors can lead to complex allergic diseases. A novel, stepwise, large-scale, and integrative approach will be led by a network of complementary experts in allergy, epidemiology, allergen biochemistry, immunology, molecular biology, epigenetics, functional genomics, bioinformatics, computational and systems biology. The following steps are proposed: (i) Identification of ‘classical’ and ‘novel’ phenotypes in existing birth cohorts; (ii) Building discovery of the relevant mechanisms in IgE-associated allergic diseases in existing longitudinal birth cohorts and Karelian children; (iii) Validation and redefinition of classical and novel phenotypes of IgE-associated allergic diseases; and (iv) Translational integration of systems biology outcomes into health care, including societal aspects. MeDALL will lead to: (i) A better understanding of allergic phenotypes, thus expanding current knowledge of the genomic and environmental determinants of allergic diseases in an integrative way; (ii) Novel diagnostic tools for the early diagnosis of allergy, targets for the development of novel treatment modalities, and prevention of allergic diseases; (iii) Improving the health of European citizens as well as increasing the competitiveness and boosting the innovative capacity of Europe, while addressing global health issues and ethical issues.

Published
2011

34. International network of cancer genome projects

Author

Hudson, TJ, Anderson, W, Aretz, A, Barker, AD, Bell, C, Bernabe, RR, Bhan, MK, Calvo, F, Eerola, I, Gerhard, DS, Guttmacher, A, Guyer, M, Hemsley, FM, Jennings, JL, Kerr, D, Klatt, P, Kolar, P, Kusuda, J, Lane, DP, Laplace, F, Lu, Y, Nettekoven, G, Ozenberger, B, Peterson, J, Rao, TS, Remacle, J, Schafer, AJ, Shibata, T, Stratton, MR, Vockley, JG, Watanabe, K, Yang, H, Yuen, MMF, Knoppers, M, Bobrow, M, Cambon-Thomsen, A, Dressler, LG, Dyke, SOM, Joly, Y, Kato, K, Kennedy, KL, Nicolas, P, Parker, MJ, Rial-Sebbag, E, Romeo-Casabona, CM, Shaw, KM, Wallace, S, Wiesner, GL, Zeps, N, Lichter, P, Biankin, AV, Chabannon, C, Chin, L, Clement, B, de Alava, E, Degos, F, Ferguson, ML, Geary, P, Hayes, DN, Johns, AL, Nakagawa, H, Penny, R, Piris, MA, Sarin, R, Scarpa, A, van de Vijver, M, Futreal, PA, Aburatani, H, Bayes, M, Bowtell, DDL, Campbell, PJ, Estivill, X, Grimmond, SM, Gut, I, Hirst, M, Lopez-Otin, C, Majumder, P, Marra, M, Ning, Z, Puente, XS, Ruan, Y, Stunnenberg, HG, Swerdlow, H, Velculescu, VE, Wilson, RK, Xue, HH, Yang, L, Spellman, PT, Bader, GD, Boutros, PC, Flicek, P, Getz, G, Guigo, R, Guo, G, Haussler, D, Heath, S, Hubbard, TJ, Jiang, T, Jones, SM, Li, Q, Lopez-Bigas, N, Luo, R, Pearson, JV, Quesada, V, Raphael, BJ, Sander, C, Speed, TP, Stuart, JM, Teague, JW, Totoki, Y, Tsunoda, T, Valencia, A, Wheeler, DA, Wu, H, Zhao, S, Zhou, G, Stein, LD, Lathrop, M, Ouellette, BFF, Thomas, G, Yoshida, T, Axton, M, Gunter, C, McPherson, JD, Miller, LJ, Kasprzyk, A, Zhang, J, Haider, SA, Wang, J, Yung, CK, Cross, A, Liang, Y, Gnaneshan, S, Guberman, J, Hsu, J, Chalmers, DRC, Hasel, KW, Kaan, TSH, Knoppers, BM, Lowrance, WW, Masui, T, Rodriguez, LL, Vergely, C, Cloonan, N, Defazio, A, Eshleman, JR, Etemadmoghadam, D, Gardiner, BA, Kench, JG, Sutherland, RL, Tempero, MA, Waddell, NJ, Wilson, PJ, Gallinger, S, Tsao, M-S, Shaw, PA, Petersen, GM, Mukhopadhyay, D, DePinho, RA, Thayer, S, Muthuswamy, L, Shazand, K, Beck, T, Sam, M, Timms, L, Ballin, V, Ji, J, Zhang, X, Chen, F, Hu, X, Yang, Q, Tian, G, Zhang, L, Xing, X, Li, X, Zhu, Z, Yu, Y, Yu, J, Tost, J, Brennan, P, Holcatova, I, Zaridze, D, Brazma, A, Egevad, L, Prokhortchouk, E, Banks, RE, Uhlen, M, Viksna, J, Ponten, F, Skryabin, K, Birney, E, Borg, A, Borresen-Dale, A-L, Caldas, C, Foekens, JA, Martin, S, Reis-Filho, JS, Richardson, AL, Sotiriou, C, van't Veer, L, Birnbaum, D, Blanche, H, Boucher, P, Boyault, S, Masson-Jacquemier, JD, Pauporte, I, Pivot, X, Vincent-Salomon, A, Tabone, E, Theillet, C, Treilleux, I, Bioulac-Sage, P, Decaens, T, Franco, D, Gut, M, Samuel, D, Zucman-Rossi, J, Eils, R, Brors, B, Korbel, JO, Korshunov, A, Landgraf, P, Lehrach, H, Pfister, S, Radlwimmer, B, Reifenberger, G, Taylor, MD, von Kalle, C, Majumder, PP, Pederzoli, P, Lawlor, RT, Delledonne, M, Bardelli, A, Gress, T, Klimstra, D, Zamboni, G, Nakamura, Y, Miyano, S, Fujimoto, A, Campo, E, de Sanjose, S, Montserrat, E, Gonzalez-Diaz, M, Jares, P, Himmelbaue, H, Bea, S, Aparicio, S, Easton, DF, Collins, FS, Compton, CC, Lander, ES, Burke, W, Green, AR, Hamilton, SR, Kallioniemi, OP, Ley, TJ, Liu, ET, Wainwright, BJ, Hudson, TJ, Anderson, W, Aretz, A, Barker, AD, Bell, C, Bernabe, RR, Bhan, MK, Calvo, F, Eerola, I, Gerhard, DS, Guttmacher, A, Guyer, M, Hemsley, FM, Jennings, JL, Kerr, D, Klatt, P, Kolar, P, Kusuda, J, Lane, DP, Laplace, F, Lu, Y, Nettekoven, G, Ozenberger, B, Peterson, J, Rao, TS, Remacle, J, Schafer, AJ, Shibata, T, Stratton, MR, Vockley, JG, Watanabe, K, Yang, H, Yuen, MMF, Knoppers, M, Bobrow, M, Cambon-Thomsen, A, Dressler, LG, Dyke, SOM, Joly, Y, Kato, K, Kennedy, KL, Nicolas, P, Parker, MJ, Rial-Sebbag, E, Romeo-Casabona, CM, Shaw, KM, Wallace, S, Wiesner, GL, Zeps, N, Lichter, P, Biankin, AV, Chabannon, C, Chin, L, Clement, B, de Alava, E, Degos, F, Ferguson, ML, Geary, P, Hayes, DN, Johns, AL, Nakagawa, H, Penny, R, Piris, MA, Sarin, R, Scarpa, A, van de Vijver, M, Futreal, PA, Aburatani, H, Bayes, M, Bowtell, DDL, Campbell, PJ, Estivill, X, Grimmond, SM, Gut, I, Hirst, M, Lopez-Otin, C, Majumder, P, Marra, M, Ning, Z, Puente, XS, Ruan, Y, Stunnenberg, HG, Swerdlow, H, Velculescu, VE, Wilson, RK, Xue, HH, Yang, L, Spellman, PT, Bader, GD, Boutros, PC, Flicek, P, Getz, G, Guigo, R, Guo, G, Haussler, D, Heath, S, Hubbard, TJ, Jiang, T, Jones, SM, Li, Q, Lopez-Bigas, N, Luo, R, Pearson, JV, Quesada, V, Raphael, BJ, Sander, C, Speed, TP, Stuart, JM, Teague, JW, Totoki, Y, Tsunoda, T, Valencia, A, Wheeler, DA, Wu, H, Zhao, S, Zhou, G, Stein, LD, Lathrop, M, Ouellette, BFF, Thomas, G, Yoshida, T, Axton, M, Gunter, C, McPherson, JD, Miller, LJ, Kasprzyk, A, Zhang, J, Haider, SA, Wang, J, Yung, CK, Cross, A, Liang, Y, Gnaneshan, S, Guberman, J, Hsu, J, Chalmers, DRC, Hasel, KW, Kaan, TSH, Knoppers, BM, Lowrance, WW, Masui, T, Rodriguez, LL, Vergely, C, Cloonan, N, Defazio, A, Eshleman, JR, Etemadmoghadam, D, Gardiner, BA, Kench, JG, Sutherland, RL, Tempero, MA, Waddell, NJ, Wilson, PJ, Gallinger, S, Tsao, M-S, Shaw, PA, Petersen, GM, Mukhopadhyay, D, DePinho, RA, Thayer, S, Muthuswamy, L, Shazand, K, Beck, T, Sam, M, Timms, L, Ballin, V, Ji, J, Zhang, X, Chen, F, Hu, X, Yang, Q, Tian, G, Zhang, L, Xing, X, Li, X, Zhu, Z, Yu, Y, Yu, J, Tost, J, Brennan, P, Holcatova, I, Zaridze, D, Brazma, A, Egevad, L, Prokhortchouk, E, Banks, RE, Uhlen, M, Viksna, J, Ponten, F, Skryabin, K, Birney, E, Borg, A, Borresen-Dale, A-L, Caldas, C, Foekens, JA, Martin, S, Reis-Filho, JS, Richardson, AL, Sotiriou, C, van't Veer, L, Birnbaum, D, Blanche, H, Boucher, P, Boyault, S, Masson-Jacquemier, JD, Pauporte, I, Pivot, X, Vincent-Salomon, A, Tabone, E, Theillet, C, Treilleux, I, Bioulac-Sage, P, Decaens, T, Franco, D, Gut, M, Samuel, D, Zucman-Rossi, J, Eils, R, Brors, B, Korbel, JO, Korshunov, A, Landgraf, P, Lehrach, H, Pfister, S, Radlwimmer, B, Reifenberger, G, Taylor, MD, von Kalle, C, Majumder, PP, Pederzoli, P, Lawlor, RT, Delledonne, M, Bardelli, A, Gress, T, Klimstra, D, Zamboni, G, Nakamura, Y, Miyano, S, Fujimoto, A, Campo, E, de Sanjose, S, Montserrat, E, Gonzalez-Diaz, M, Jares, P, Himmelbaue, H, Bea, S, Aparicio, S, Easton, DF, Collins, FS, Compton, CC, Lander, ES, Burke, W, Green, AR, Hamilton, SR, Kallioniemi, OP, Ley, TJ, Liu, ET, and Wainwright, BJ

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

35. International network of cancer genome projects

Author

Hudson, T., Anderson, W., Aretz, A., Barker, A., Bell, C., Bernabé, R., Bhan, M., Calvo, F., Eerola, I., Gerhard, D., Guttmacher, A., Guyer, M., Hemsley, F., Jennings, J., Kerr, D., Klatt, P., Kolar, P., Kusuda, J., Lane, D., Laplace, F., Lu, Y., Nettekoven, G., Ozenberger, B., Peterson, J., Rao, T., Remacle, J., Schafer, A., Shibata, T., Stratton, M., Vockley, J., Watanabe, K., Yang, H., Yuen, M., Knoppers, B., Bobrow, M., Cambon-Thomsen, A., Dressler, L., Dyke, S., Joly, Y., Kato, K., Kennedy, K., Nicolás, P., Parker, M., Rial-Sebbag, E., Romeo-Casabona, C., Shaw, K., Wallace, S., Wiesner, G., Zeps, Nikolajs, Lichter, P., Biankin, A., Chabannon, C., Chin, L., Clément, B., Alava, E., Degos, F., Ferguson, M., Geary, P., Hayes, D., Johns, A., Kasprzyk, A., Nakagawa, H., Penny, R., Piris, M., Sarin, R., Scarpa, A., De Vijver, M., Futreal, P., Aburatani, H., Bayés, M., Bowtell, D., Campbel, P., Estivill, X., Grimmond, S., Gut, I., Hirst, M., López-Otý´n, C., Majumder, P., Marra, M., McPherson, J., Ning, Z., Puente, X., Ruan, Y., Stunnenberg, H., Swerdlow, H., Velculescu, V., Hudson, T., Anderson, W., Aretz, A., Barker, A., Bell, C., Bernabé, R., Bhan, M., Calvo, F., Eerola, I., Gerhard, D., Guttmacher, A., Guyer, M., Hemsley, F., Jennings, J., Kerr, D., Klatt, P., Kolar, P., Kusuda, J., Lane, D., Laplace, F., Lu, Y., Nettekoven, G., Ozenberger, B., Peterson, J., Rao, T., Remacle, J., Schafer, A., Shibata, T., Stratton, M., Vockley, J., Watanabe, K., Yang, H., Yuen, M., Knoppers, B., Bobrow, M., Cambon-Thomsen, A., Dressler, L., Dyke, S., Joly, Y., Kato, K., Kennedy, K., Nicolás, P., Parker, M., Rial-Sebbag, E., Romeo-Casabona, C., Shaw, K., Wallace, S., Wiesner, G., Zeps, Nikolajs, Lichter, P., Biankin, A., Chabannon, C., Chin, L., Clément, B., Alava, E., Degos, F., Ferguson, M., Geary, P., Hayes, D., Johns, A., Kasprzyk, A., Nakagawa, H., Penny, R., Piris, M., Sarin, R., Scarpa, A., De Vijver, M., Futreal, P., Aburatani, H., Bayés, M., Bowtell, D., Campbel, P., Estivill, X., Grimmond, S., Gut, I., Hirst, M., López-Otý´n, C., Majumder, P., Marra, M., McPherson, J., Ning, Z., Puente, X., Ruan, Y., Stunnenberg, H., Swerdlow, H., and Velculescu, V.

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. © 2010 Macmillan Publishers Limited. All rights reserved.

Published
2010

37. Exclusion of Patentability of Embryonic Stem Cells in Europe: Another Restriction by the European Patent Office.

Author

Mahalatchimy, A., Rial-Sebbag, E., Duguet, A.- M., Cambon-Thomsen, A., and Taboulet, F.

Subjects
PATENT law, HUMAN embryonic stem cells, LEGAL status of fetuses, HUMAN embryos, PATENTABILITY, PATENTS, EXCLUSION (Patents), GOVERNMENT policy, LAW
Abstract

The article focuses on a decision held by the European Patent Office (EPO) regarding the exclusion of patentability of human embryonic stem cells (hESC) in a case involving the Technion Research and Development Foundation in 2014. According to the EPO, it is unacceptable under the European Patent Convention (EPC) to patent inventions using hESC obtained either by de novo destruction of human embryos or from publicly available hESC lines originally derived by a process that destroys the embryo.

Published
2015

38. MeDALL (Mechanisms of the Development of ALLergy): An integrated approach from phenotypes to systems medicine,MeDALL (Mechanizmy powstawania alergii): Zintegrowane podejście - od fenotypów do medycyny systemowej

Author

Kowalski, M. L., Akdis, M., Auffray, C., Keil, T., Anto, J., Bousquet, J., Grupa Badawcza Medall, I., Haahtela, T., Cambon-Thomsen, A., Lambrecht, B. N., Postma, D. S., Sunyer, J., Valenta, R., Akdis, C. A., Annesi-Maesano, I., Arno, A., Bachert, C., Ballester, F., Basagana, X., Baumgartner, U., Bindslev-Jensen, C., Brunekreef, B., Carlsen, K. H., Chatzi, L., Crameri, R., Eveno, E., Forastiere, F., Garcia-Aymerich, J., Guerra, S., Hammad, H., Heinrich, J., Hirsch, D., Jacquemin, B., Kauffmann, F., Kerkhof, M., Kogevinas, M., Koppelman, G. H., Lau, S., Lodrup-Carlsen, K. C., Lopez-Botet, M., Lotvall, J., Lupinek, C., Maier, D., Makela, M. J., Martinez, F. D., Mestres, J., Momas, I., Martijn Nawijn, Neubauer, A., Oddie, S., Palkonen, S., Pin, I., Pison, C., Rancé, F., Reitamo, S., Rial-Sebbag, E., Salapatas, M., Siroux, V., Smagghe, D., Torrent, M., Toskala, E., Cauwenberge, P., Oosterhout, A. J. M., Varraso, R., Hertzen, L., Wickman, M., Wijmenga, C., Worm, M., Wright, J., and Zuberbier, T.

39. The role of a bioresource research impact factor as an incentive to share human bioresources

Author

Goldberg, M., Thorisson, G. A., Oestergaard, M. Z., Andrieu, S., Melegh, B., Hofman, P., Thomsen, M., Kauffmann, F., Metspalu, A., Zins, M., Miranda, L., Reiche, A., Hewitt, R., Parodi, B., Desche&#770, nes, M., Dalgleish, R., Cambon-thomsen, A., Bertier, G., Pasterk, M., Zawati, M. H., Dagher, G., Carpenter, J., Filocamo, M., Mabile, L., Rivalle, G., Napolitani, F., Boeckhout, M., Tarasova, L., Lomba, I., Donato, J. H. Di, Susbielle, G., Leitsalu, L., Rochaix, P., and Rial-sebbag, E.

40. MeDALL (Mechanisms of the Development of ALLergy): An integrated approach from phenotypes to systems medicine | MeDALL (Mechanizmy powstawania alergii): Zintegrowane podejście - od fenotypów do medycyny systemowej

Author

Kowalski, M. L., Akdis, M., Auffray, C., Keil, T., Anto, J., Bousquet, J., Grupa Badawcza Medall, I., Haahtela, T., Cambon-Thomsen, A., Lambrecht, B. N., Postma, D. S., Sunyer, J., Valenta, R., Akdis, C. A., Annesi-Maesano, I., Arno, A., Bachert, C., Ballester, F., Basagana, X., Baumgartner, U., Bindslev-Jensen, C., Brunekreef, B., Carlsen, K. H., Chatzi, L., Crameri, R., Eveno, E., Francesco Forastiere, Garcia-Aymerich, J., Guerra, S., Hammad, H., Heinrich, J., Hirsch, D., Jacquemin, B., Kauffmann, F., Kerkhof, M., Kogevinas, M., Koppelman, G. H., Lau, S., Lodrup-Carlsen, K. C., Lopez-Botet, M., Lotvall, J., Lupinek, C., Maier, D., Makela, M. J., Martinez, F. D., Mestres, J., Momas, I., Nawijn, M. C., Neubauer, A., Oddie, S., Palkonen, S., Pin, I., Pison, C., Rancé, F., Reitamo, S., Rial-Sebbag, E., Salapatas, M., Siroux, V., Smagghe, D., Torrent, M., Toskala, E., Cauwenberge, P., Oosterhout, A. J. M., Varraso, R., Hertzen, L., Wickman, M., Wijmenga, C., Worm, M., Wright, J., and Zuberbier, T.

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

Author

Droin-Mollard M, de Montgolfier S, Gimenez-Roqueplo AP, Flahault C, Petit A, Bourdeaut F, Julia S, Rial-Sebbag E, Coupier I, Simaga F, Brugières L, Guerrini-Rousseau L, Claret B, Cavé H, Strullu M, Hervouet L, and Lahlou-Laforêt K

Abstract

In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic and constitutional situations intersect throughout the care pathway. The discovery of potential predisposition in this context is sometimes carried out outside the usual framework. This article focuses on the views of children, adolescents, and young adults (AYA) with cancer and their parents about their experience with genomic testing. Forty-eight semi-structured interviews were performed with children or AYAs with cancer and one of their parents, before and/or after receiving the genetic test results. The interviews were fully transcribed, coded and thematically analysed using an inductive method. This analysis revealed several themes that are key issues: perceived understanding and consenting, apprehension about the test outcomes (expectations and fears), perception and attitude towards incidental findings. The main expectation was an aetiological explanation. Children and AYAs also emphasised the altruistic meaning of genetic testing, while parents seemed to expect a therapeutic and preventive approach for their child and the rest of the family. Parents were more concerned about a family risk, while patients were more afraid of cancer relapse or transmission to their descendants. Both groups suggested possible feelings of guilt concerning family transmission and imaginary representations of what genomics may allow. Incidental findings were not understood by patients, while some parents perceived the related issues and hesitated between wanting or not to know. A multidisciplinary approach would be an interesting way to help parents and children and AYAs to better grasp the complexity of genetic and/or genomic testing., (© 2024. The Author(s).)

Published
2024
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42. International scope of biomedical research ethics review.

Author

Rothstein MA, Zimmerer KC, Andanda P, Arawi T, Arzuaga F, Chen H, de Vries M, Dove ES, Ghaly M, Hatanaka R, Hendriks AC, Hernández MC, Ho CWL, Joly Y, Krekora-Zając D, Lee WB, Mattsson T, Molnár-Gábor F, Namalwa K, Nicolás P, Nielsen J, Nnamuchi O, Otlowski M, Palmour N, Rial-Sebbag E, Siegal G, Wathuta JM, Zawati MH, and Knoppers BM

Subjects
Humans, Ethics Committees, Research, Ethics, Research, International Cooperation, Biomedical Research ethics, Ethical Review
Abstract

Many countries consider long-term implications for society.

Published
2024
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43. Chapitre 5. From individuals to social: The needs for a global ethics overview in pharmacogenomics.

Author

Constantin A, Faya Robles A, and Rial-Sebbag E

Subjects
Humans, Precision Medicine, Social Justice, Pharmacogenetics, Informed Consent
Abstract

As a part of personalized medicine, pharmacogenomics (PGx) allows practitioners to provide the right drug for a given patient, in accordance with the result of a genetic test. This practice raises many ethical issues that are discussed in the literature, sometimes within the larger context of personalized medicine. This article is based on a literature review that is original insofar as it is interdisciplinary and based on an approach that articulates individual and social rights. Here, we propose to reconsider some classic ethical issues, such as informed consent, incidental findings and data protection which are raised by genetic testing and also by PGx in the same or in a different way. We also analyse broader collective issues around racialization and health equality. Our purpose is to contribute in drawing links and parallels between individual rights and collective rights using a social approach. This analysis discusses these ethical issues in research and in clinical setting, understanding the treatment of the individual in his dual quality of patient and research participant.

Published
2024
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44. Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory.

Author

Bernier A, Molnár-Gábor F, Knoppers BM, Borry P, Cesar PMDG, Devriendt T, Goisauf M, Murtagh M, Jiménez PN, Recuero M, Rial-Sebbag E, Shabani M, Wilson RC, Zaccagnini D, and Maxwell L

Subjects
European Union, Computer Security legislation & jurisprudence
Abstract

The coming-into-force of the EU General Data Protection Regulation (GDPR) is a watershed moment in the legal recognition of enforceable rights to informational self-determination. The rapid evolution of legal requirements applicable to data use, however, has the potential to outstrip the capabilities of networks of biomedical data users to respond to the shifting norms. It can also delegitimate established institutional bodies that are responsible for assessing and authorising the downstream use of data, including research ethics committees and institutional data custodians. These burdens are especially pronounced for clinical and research networks that are of transnational scale, because the legal compliance burden for outbound international data transfers from the EEA is especially high. Legislatures, courts, and regulators in the EU should therefore implement the following three legal changes. First, the responsibilities of particular actors in a data sharing network should be delimited through the contractual allocation of responsibilities between collaborators. Second, the use of data through secure data processing environments should not trigger the international transfer provisions of the GDPR. Third, the use of federated data analysis methodologies that do not provide analysis nodes or downstream users access to identifiable personal data as part of the outputs of those analyses should not be considered circumstances of joint controllership, nor lead to the users of non-identifiable data to be considered controllers or processors. These small clarifications of, or modifications to, the GDPR would facilitate the exchange of biomedical data amongst clinicians and researchers., (© 2023. The Author(s).)

Published
2024
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45. Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries.

Author

Biasiotto R, Viberg Johansson J, Alemu MB, Romano V, Bentzen HB, Kaye J, Ancillotti M, Blom JMC, Chassang G, Hallinan D, Jónsdóttir GA, Monasterio Astobiza A, Rial-Sebbag E, Rodríguez-Arias D, Shah N, Skovgaard L, Staunton C, Tschigg K, Veldwijk J, and Mascalzoni D

Subjects
Humans, Europe, Austria, France, Germany, Information Dissemination
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; 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., Conclusions: This 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., (©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, Deborah Mascalzoni. Originally published in the Journal of Medical Internet Research (https://www.jmir.org), 23.11.2023.)

Published
2023
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46. Concordance of International Regulation of Pediatric Health Research.

Author

Rothstein MA, Patrinos D, Brothers KB, Clayton EW, Joly Y, Zawati MH, Andanda P, Arawi T, Castañeda M, Chalmers D, Chen H, Ghaly M, Hatanaka R, Hendriks AC, Ho CWL, Kaye J, Krekora-Zając D, Lee WB, Mattsson T, Nicolás P, Nnamuchi O, Rial-Sebbag E, Siegal G, Wathuta JM, and Knoppers BM

Subjects
Child, Humans, Research Personnel, Informed Consent, Ethics, Research, Biological Specimen Banks
Abstract

Objective: To assess the comparability of international ethics principles and practices used in regulating pediatric research as a first step in determining whether reciprocal deference for international ethics review is feasible. Prior studies by the authors focused on other aspects of international health research, such as biobanks and direct-to-participant genomic research. The unique nature of pediatric research and its distinctive regulation by many countries warranted a separate study., Study Design: A representative sample of 21 countries was selected, with geographical, ethnic, cultural, political, and economic diversity. A leading expert on pediatric research ethics and law was selected to summarize the ethics review of pediatric research in each country. To ensure the comparability of the responses, a 5-part summary of pediatric research ethics principles in the US was developed by the investigators and distributed to all country representatives. The international experts were asked to assess and describe whether principles in their country and the US were congruent. Results were obtained and compiled in the spring and summer of 2022., Results: Some of the countries varied in their conceptualization or description of one or more ethical principles for pediatric research, but overall, the countries in the study demonstrated a fundamental concordance., Conclusions: Similar regulation of pediatric research in 21 countries suggests that international reciprocity is a viable strategy., Competing Interests: Declaration of Competing Interest The authors declare no conflicts of interest., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Published
2023
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47. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.

Author

Swen JJ, van der Wouden CH, Manson LE, Abdullah-Koolmees H, Blagec K, Blagus T, Böhringer S, Cambon-Thomsen A, Cecchin E, Cheung KC, Deneer VH, Dupui M, Ingelman-Sundberg M, Jonsson S, Joefield-Roka C, Just KS, Karlsson MO, 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 JC, Tremmel R, Turner RM, van Rhenen MH, Dávila Fajardo CL, Dolžan V, Patrinos GP, Pirmohamed M, Sunder-Plassmann G, Toffoli G, and Guchelaar HJ

Subjects
Humans, Male, Female, Genetic Testing, Genotype, Drug Combinations, Treatment Outcome, Pharmacogenetics, Drug-Related Side Effects and Adverse Reactions prevention & control
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 control group were compared, and only if the difference was statistically significant was an analysis done that included all of the patients in the study. Outcomes were compared between the study and control groups, both for patients with an actionable drug-gene interaction test result (ie, a result for which the DPWG recommended a change to standard-of-care drug treatment) and for all patients who received at least one dose of index drug. The safety analysis included all participants who received at least one dose of a study drug. This study is registered with ClinicalTrials.gov, NCT03093818 and is closed to new participants., Findings: Between March 7, 2017, and June 30, 2020, 41 696 patients were assessed for eligibility and 6944 (51·4 % female, 48·6% male; 97·7% self-reported European, Mediterranean, or Middle Eastern ethnicity) were enrolled and assigned to receive genotype-guided drug treatment (n=3342) or standard care (n=3602). 99 patients (52 [1·6%] of the study group and 47 [1·3%] of the control group) withdrew consent after group assignment. 652 participants (367 [11·0%] in the study group and 285 [7·9%] in the control group) were lost to follow-up. In patients with an actionable test result for the index drug (n=1558), a clinically relevant adverse drug reaction occurred in 152 (21·0%) of 725 patients in the study group and 231 (27·7%) of 833 patients in the control group (odds ratio [OR] 0·70 [95% CI 0·54-0·91]; p=0·0075), whereas for all patients, the incidence was 628 (21·5%) of 2923 patients in the study group and 934 (28·6%) of 3270 patients in the control group (OR 0·70 [95% CI 0·61-0·79]; p <0·0001)., Interpretation: Genotype-guided treatment using a 12-gene pharmacogenetic panel significantly reduced the incidence of clinically relevant adverse drug reactions and was feasible across diverse European health-care system organisations and settings. Large-scale implementation could help to make drug therapy increasingly safe., Funding: European Union Horizon 2020., Competing Interests: Declaration of interests MP received partnership funding from the UK Medical Research Council (MRC) Clinical Pharmacology Training Scheme (cofunded by MRC, Roche, Union Chimique Belge [UCB] Pharma, Eli Lilly, and Novartis); a PhD studentship jointly funded by the UK Engineering and Physical Sciences Research Council and AstraZeneca; unrestricted educational grant support for the UK Pharmacogenetics and Stratified Medicine Network from Bristol Myers Squibb; and human leucocyte antigen genotyping panel with MC Diagnostics but does not benefit financially from this, outside of the submitted work. JCS received speaker honoraria from Novartis for lectures on CYP2C9 pharmacogenetics and siponimod metabolism, outside of the submitted work. MS was partly supported by the Robert Bosch Stiftung and German Research Foundation (DFG) under Germany's Excellence Strategy (EXC 2180—390900677); and outside of the submitted work received support from Green Cross WellBeing, Gilead Sciences, Robert Bosch, CORAT Therapeutics, and Agena Bioscience. ES was partly supported by the Robert Bosch Stiftung and the German Research Foundation (DFG) under Germany's Excellence Strategy (EXC 2180—390900677). RT was partly supported by the Robert Bosch Stiftung. MK received research funding from Bayer and Roche, educational grants from Novartis and Servier, and consultancy fees from Pharmetheus, outside of the submitted work. SJ received consultancy fees from Pharmetheus, outside of the submitted work. All other authors declare no competing interests., (Crown Copyright © 2023 Published by Elsevier Ltd. All rights reserved.)

Published
2023
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48. Chapitre 6. Le déploiement de la médecine génomique : la place de l’autonomie du patient dans la réutilisation des données génétiques au profit de la recherche.

Author

Feriol L and Rial-Sebbag E

Subjects
Humans, Female, Male, Knowledge, Genomic Medicine, Bioethics
Abstract

Genetic research today is largely based on the reuse of data from care for the benefit of research. This evolution of practices, which involves an increasingly marked communication between care and research, questions the place given to the patient seen as a potential participant in research. In order to promote the circulation of genetic data generated and to allow their reuse for the benefit of different research, the French legislator reaffirmed the use of the opt-out mechanism (&#8220;non-opposition&#8221;) in the last bioethics law of the 2 August 2021. If the reasons that led the legislator to make this shift from the concept of consent to the opt-out mechanism are legitimate, the conditions of implementation of this mechanism seem to need to be questioned in order to ensure the effectivity of the balance sought by the legislator between preserving the autonomy of the individual with regard to the sharing of his/her genetic data and encouraging the development of medical knowledge; one should not be to the detriment of the other.

Published
2023
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49. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.

Author

de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, and Forzano F

Subjects
Europe, Genetic Testing ethics, Human Genetics ethics, Human Genetics organization & administration, Humans, Genetic Testing standards, Human Genetics standards, Practice Guidelines as Topic, Societies, Medical standards
Abstract

If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.

Published
2021
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50. Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study.

Author

van der Wouden CH, Böhringer S, Cecchin E, Cheung KC, Dávila-Fajardo CL, Deneer VHM, Dolžan V, Ingelman-Sundberg M, Jönsson S, Karlsson MO, Kriek M, Mitropoulou C, Patrinos GP, Pirmohamed M, Rial-Sebbag E, Samwald M, Schwab M, Steinberger D, Stingl J, Sunder-Plassmann G, Toffoli G, Turner RM, van Rhenen MH, van Zwet E, Swen JJ, and Guchelaar HJ

Subjects
Drug-Related Side Effects and Adverse Reactions genetics, Evidence-Based Medicine, Humans, Models, Statistical, Practice Guidelines as Topic, Prospective Studies, Drug-Related Side Effects and Adverse Reactions prevention & control, Pharmacogenomic Testing methods, Precision Medicine methods
Abstract

Objectives: Pharmacogenetic panel-based testing represents a new model for precision medicine. A sufficiently powered prospective study assessing the (cost-)effectiveness of a panel-based pharmacogenomics approach to guide pharmacotherapy is lacking. Therefore, the Ubiquitous Pharmacogenomics Consortium initiated the PREemptive Pharmacogenomic testing for prevention of Adverse drug Reactions (PREPARE) study. Here, we provide an overview of considerations made to mitigate multiple methodological challenges that emerged during the design., Methods: An evaluation of considerations made when designing the PREPARE study across six domains: study aims and design, primary endpoint definition and collection of adverse drug events, inclusion and exclusion criteria, target population, pharmacogenomics intervention strategy, and statistical analyses., Results: Challenges and respective solutions included: (1) defining and operationalizing a composite primary endpoint enabling measurement of the anticipated effect, by including only severe, causal, and drug genotype-associated adverse drug reactions; (2) avoiding overrepresentation of frequently prescribed drugs within the patient sample while maintaining external validity, by capping drugs of enrolment; (3) designing the pharmacogenomics intervention strategy to be applicable across ethnicities and healthcare settings; and (4) designing a statistical analysis plan to avoid dilution of effect by initially excluding patients without a gene-drug interaction in a gatekeeping analysis., Conclusion: Our design considerations will enable quantification of the collective clinical utility of a panel of pharmacogenomics-markers within one trial as a proof-of-concept for pharmacogenomics-guided pharmacotherapy across multiple actionable gene-drug interactions. These considerations may prove useful to other investigators aiming to generate evidence for precision medicine.

Published
2020
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