Patient preferences in genetic newborn screening for rare diseases: study protocol
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...
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2024-04-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/14/4/e081835.full |
| _version_ | 1827260059791392768 |
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| author | Antonio Novelli Alessandra Ferlini Ferdinand Knieling Brett Hauber Jorien Veldwijk Mats Hansson Janbernd Kirschner Åsa Grauman Sylvia MARTIN Emanuele Angolini Jennifer Audi Dr. Enrico Bertini Lucia Pia Bruno Joshua Coulter Fernanda Fortunato Vera Frankova Nicolas Garnier Edith Gross Gergana Kyosovksa Silvia Ottombrino Roman Raming Stefaan Sansen Christina Saier |
| author_facet | Antonio Novelli Alessandra Ferlini Ferdinand Knieling Brett Hauber Jorien Veldwijk Mats Hansson Janbernd Kirschner Åsa Grauman Sylvia MARTIN Emanuele Angolini Jennifer Audi Dr. Enrico Bertini Lucia Pia Bruno Joshua Coulter Fernanda Fortunato Vera Frankova Nicolas Garnier Edith Gross Gergana Kyosovksa Silvia Ottombrino Roman Raming Stefaan Sansen Christina Saier |
| author_sort | Antonio Novelli |
| collection | DOAJ |
| description | 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). |
| first_indexed | 2024-04-24T07:34:30Z |
| format | Article |
| id | doaj.art-d2f7ca79e557453aa7cd102867751306 |
| institution | Directory Open Access Journal |
| issn | 2044-6055 |
| language | English |
| last_indexed | 2025-03-22T02:36:28Z |
| publishDate | 2024-04-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj.art-d2f7ca79e557453aa7cd1028677513062024-05-03T18:10:09ZengBMJ Publishing GroupBMJ Open2044-60552024-04-0114410.1136/bmjopen-2023-081835Patient preferences in genetic newborn screening for rare diseases: study protocolAntonio Novelli0Alessandra Ferlini1Ferdinand Knieling2Brett Hauber3Jorien Veldwijk4Mats Hansson5Janbernd Kirschner6Åsa Grauman7Sylvia MARTIN8Emanuele Angolini9Jennifer Audi10Dr. Enrico Bertini11Lucia Pia Bruno12Joshua Coulter13Fernanda Fortunato14Vera Frankova15Nicolas Garnier16Edith Gross17Gergana Kyosovksa18Silvia Ottombrino19Roman Raming20Stefaan Sansen21Christina Saier222 Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy7 Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy11 Erlangen University Hospital, Erlangen, Bayern, Germany6 Pfizer Inc, New York, New York, USAErasmus Universiteit Rotterdam Erasmus School of Health Policy and Management, Rotterdam, Netherlands1 Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden10 Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany1 Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden1 Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden2 Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy3 Takeda Pharmaceuticals International AG, Opfikon, Zürich, Switzerland2 Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy4 Medical Genetics, University of Siena, Siena, Italy6 Pfizer Inc, New York, New York, USA7 Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy8 Institute for Medical Humanities, First Faculty of Medicine, Charles University, Prague, Czech Republic6 Pfizer Inc, New York, New York, USA9 EURORDIS, Paris, Ile-de-France, France12 Bulgarian Association for Personalised Medicine, Sofia, Bulgaria2 Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy11 Erlangen University Hospital, Erlangen, Bayern, Germany13 Sanofi-Aventis SA, Diegem, Belgium14 Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Freiburg, GermanyIntroduction 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).https://bmjopen.bmj.com/content/14/4/e081835.full |
| spellingShingle | Antonio Novelli Alessandra Ferlini Ferdinand Knieling Brett Hauber Jorien Veldwijk Mats Hansson Janbernd Kirschner Åsa Grauman Sylvia MARTIN Emanuele Angolini Jennifer Audi Dr. Enrico Bertini Lucia Pia Bruno Joshua Coulter Fernanda Fortunato Vera Frankova Nicolas Garnier Edith Gross Gergana Kyosovksa Silvia Ottombrino Roman Raming Stefaan Sansen Christina Saier Patient preferences in genetic newborn screening for rare diseases: study protocol BMJ Open |
| title | Patient preferences in genetic newborn screening for rare diseases: study protocol |
| title_full | Patient preferences in genetic newborn screening for rare diseases: study protocol |
| title_fullStr | Patient preferences in genetic newborn screening for rare diseases: study protocol |
| title_full_unstemmed | Patient preferences in genetic newborn screening for rare diseases: study protocol |
| title_short | Patient preferences in genetic newborn screening for rare diseases: study protocol |
| title_sort | patient preferences in genetic newborn screening for rare diseases study protocol |
| url | https://bmjopen.bmj.com/content/14/4/e081835.full |
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