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. 2024 Apr 19;14(4):e081835.
doi: 10.1136/bmjopen-2023-081835.

Patient preferences in genetic newborn screening for rare diseases: study protocol

Sylvia Martin  1 , Emanuele Angolini  2 , Jennifer Audi  3 , Enrico Bertini  2 , Lucia Pia Bruno  4   5 , Joshua Coulter  6 , Alessandra Ferlini  7 , Fernanda Fortunato  7 , Vera Frankova  8 , Nicolas Garnier  6 , Åsa Grauman  9 , Edith Gross  10 , Brett Hauber  6 , Mats Hansson  9 , Janbernd Kirschner  11 , Ferdinand Knieling  12 , Gergana Kyosovksa  13 , Silvia Ottombrino  2 , Antonio Novelli  2 , Roman Raming  12 , Stefaan Sansen  14 , Christina Saier  15 , Jorien Veldwijk  16
Affiliations

Patient preferences in genetic newborn screening for rare diseases: study protocol

Sylvia Martin et al. BMJ Open. .

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).

Keywords: GENETICS; Patient Participation; Patient Reported Outcome Measures; Patient-Centered Care; QUALITATIVE RESEARCH.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Study flowchart in Germany.
Figure 2
Figure 2
Study flowchart in Italy.
Figure 3
Figure 3
Protocol’s procedures.
See this image and copyright information in PMC

References

    1. Nguengang Wakap S, Lambert DM, Olry A, et al. . Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 2020;28:165–73. 10.1038/s41431-019-0508-0 - DOI - PMC - PubMed
    1. Hay E, Elmslie F, Lanyon P, et al. . The diagnostic Odyssey in rare diseases; a task and finish group report for the Department of health and social care. NIHR Open Res 2022. 10.3310/nihropenres.1115171.1 - DOI
    1. Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and Undiagnosed disease: beyond the Exome. Genome Med 2022;14. 10.1186/s13073-022-01026-w - DOI - PMC - PubMed
    1. Ferreira CR. The burden of rare diseases. American J of Med Genetics Pt A 2019;179:885–92. 10.1002/ajmg.a.61124 - DOI - PubMed
    1. Gokdemir Y, Eyuboglu TS, Emiralioglu N, et al. . Geographical barriers to timely diagnosis of cystic fibrosis and anxiety level of parents during newborn screening in Turkey. Pediatr Pulmonol 2021;56:3223–31. 10.1002/ppul.25586 - DOI - PubMed

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