학술논문
Patient preferences in genetic newborn screening for rare diseases: study protocol.
Document Type
Academic Journal
Author
Martin S; Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden sylvia.martin@crb.uu.se.; Angolini E; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy.; Audi J; Takeda Pharmaceuticals International AG, Opfikon, Zürich, Switzerland.; Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy.; Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Telethon Institute of Genetics and Medicine, Napoli, Campania, Italy.; Coulter J; Pfizer Inc, New York, New York, USA.; Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Fortunato F; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Frankova V; Institute for Medical Humanities, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Garnier N; Pfizer Inc, New York, New York, USA.; Grauman Å; Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden.; Gross E; EURORDIS, Paris, Ile-de-France, France.; Hauber B; Pfizer Inc, New York, New York, USA.; Hansson M; Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Knieling F; Erlangen University Hospital, Erlangen, Bayern, Germany.; Kyosovksa G; Bulgarian Association for Personalised Medicine, Sofia, Bulgaria.; Ottombrino S; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy.; Novelli A; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy.; Raming R; Erlangen University Hospital, Erlangen, Bayern, Germany.; Sansen S; Sanofi-Aventis SA, Diegem, Belgium.; Saier C; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Freiburg, Germany.; Veldwijk J; Erasmus Universiteit Rotterdam, Rotterdam, Netherlands.
Source
Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE
Subject
Language
English
Abstract
Introduction: Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the importance of incorporating patients' needs and general public perspectives into the shared decision-making process regarding gNBS. This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning. Our objective will be to assess expecting parent's perspectives, attitudes and preferences regarding gNBS for RDs in Italy and Germany.
Methods and Analysis: A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) 'healthy' expecting parents from the general population in two countries (Germany and Italy). Focus groups and interviews using the nominal group technique and ranking exercises will be performed (qualitative phase). The results will inform the treatment of attributes to be assessed via a survey and a discrete choice experiment (DCE). The total recruitment sample will be 2084 participants (approximatively 1000 participants in each country for the online survey). A combination of thematic qualitative and logit-based quantitative approaches will be used to analyse the results of the study.
Ethics and Dissemination: This study has been approved by the Erlangen University Ethics Committee (22-246_1-B), the Freiburg University Ethics Committee (23-1005 S1-AV) and clinical centres in Italy (University of FerraraCE: 357/2023/Oss/AOUFe and Hospedale Bambino Gesu: No.2997 of 2 November 2023, Prot. No. _902) and approved for data storage and handling at the Uppsala University (2022-05806-01). The dissemination of the results will be ensured via scientific journal publication (open access).
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)
Methods and Analysis: A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) 'healthy' expecting parents from the general population in two countries (Germany and Italy). Focus groups and interviews using the nominal group technique and ranking exercises will be performed (qualitative phase). The results will inform the treatment of attributes to be assessed via a survey and a discrete choice experiment (DCE). The total recruitment sample will be 2084 participants (approximatively 1000 participants in each country for the online survey). A combination of thematic qualitative and logit-based quantitative approaches will be used to analyse the results of the study.
Ethics and Dissemination: This study has been approved by the Erlangen University Ethics Committee (22-246_1-B), the Freiburg University Ethics Committee (23-1005 S1-AV) and clinical centres in Italy (University of FerraraCE: 357/2023/Oss/AOUFe and Hospedale Bambino Gesu: No.2997 of 2 November 2023, Prot. No. _902) and approved for data storage and handling at the Uppsala University (2022-05806-01). The dissemination of the results will be ensured via scientific journal publication (open access).
Competing Interests: Competing interests: None declared.
(© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)