Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line

Study Overview
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Brief Summary
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The recent modifications of the French bioethics law, the therapeutic progress and the massive development of advanced genetic techniques (such Next-Generation Sequencing (NGS)) with a rapid decrease in costs imply to question the extension of Newborn Screening (NBS) to new actionable pathologies and the acceptable and relevant methods for its possible expansion. International studies are beginning to determine the potential place of NGS in NBS. In this perspective, the SeDeN project aims to fully assess the social acceptability of these issues by measuring the diversity and consistency of expectations of French health professionals, parents and public policy makers. The SeDeN-p3 Study focuses on the opinions of parents. It aims to analyze the perception of parents in different situations: birth, early childhood, child screened in the framework of the national neonatal screening program, etc. The objective of this part is to study the understanding and expectations of parents in France regarding the extension of newborn screening as well as their preferences regarding its conditions (information, types of pathologies, screening methods, etc.).

Official Title
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Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line

Conditions
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Expanded Newborn Screening, Parental Acceptability

Intervention / Treatment
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* Other: Questionnaire
* Other: Interview


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: All populations combined: Be a parent or co-parent Age of parent: woman between 18 and 50 years man between 18 and 60 years Live in metropolitan France Have received information about the SeDeN-p3 Study Understand the purpose of the SeDeN-p3 Study Self-administered questionnaire: Be able to read and answer a self-administered questionnaire in French Population 1Q: Have a child less than a week old Have just giver birth in 1 of the partner maternity hospitals during the survey period Population 2: Parent or co-parent whose youngest child is between 1 week and 3 years old Be part of the panel of the selected survey-sample firm Semi-structured interviews Can converse fluently in French Accept to conduct a recorded interview Population 1E (sub-population of Population 1Q) Have completed the entire questionnaire Population 3 Have a child under 5 years old (inclusive) with 1 of the following diseases : Phenylketonuria Congenital hypothyroidism Congenital adrenal hyperplasia Cystic fibrosis Sickle cell disease hearing loss MCAD deficiency glutaric aciduria type -1 isovaleric academia LCHAD deficiency carnitine deficiency homocystinuria leukinosis tyrosinemia type 1 Population 4 Have a child under 17 years old (inclusive), with 1 of following diseases: Citrullinemia type I Ornithine Transcarbamylase Deficiency Methylmalonic acidaemia Very long-chain acyl-CoA dehydrogenase deficiency Carnitine palmitoyl transferase 1 deficiency Carnitine palmitoyl transferase 2 deficiency Glutaric acidaemia type II Galactosaemia Biotinidase deficiency Pompe Disease Mucopolysaccharidosis Type 1 Glucose-6-phophate dehydrogenase deficiency X-linked Adrenoleukodystrophy Spinal muscular atrophy linked to SMN1 S, beta-thalassemia Exclusion Criteria: Have a newborn child die during the recruitment period Not speak and/or understand French Refuse to participate in the SeDeN-p3 Study Be under judicial protection (tutelle, curatelle, habilitation familiale et sauvegarde de justice)

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Population 1Q<br>Parents or co-parents of a newborn child. | Other: Questionnaire<br>* Online self-administered questionnaire to quantitatively mesure parental knowledge and expectations on current and expanded newborn screeing and parental acceptability of expanded newborn screening using genetic.<br>Other: Interview<br>* Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway<br>|
| Population 2<br>Parents or co-parents whose youngest child is 1 week to 3 years old. | Other: Questionnaire<br>* Online self-administered questionnaire to quantitatively mesure parental knowledge and expectations on current and expanded newborn screeing and parental acceptability of expanded newborn screening using genetic.<br>|
| Population 3<br>Parents or co-parents whose child had a suspicious newborn screening result that was confirmed at the diagnosis phase (except hearing). | Other: Interview<br>* Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway<br>|
| Population 4<br>Parents or co-parents whose child was diagnosed later based on clinical signs for diseases not included in the list of diseases screening in French newborn screening, but included in the list of diseases screened in newborn screening in other countries. | Other: Interview<br>* Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Mixed matrix of parental acceptability dimensions of expanded newborn screening (Mixed-data matrix) | Mixed method design used to measure parental acceptability composed of quantitative and qualitative data | November 2023 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Parental acceptability scores for expanded newborn screening (Theorical Framework of Acceptability scores in self-administered questionnaire to measure parental acceptability) |  | November 2023 | 
| Typology of parental acceptability scores for expanded newborn screening (Classification) |  | November 2023 | 
| Measure of importance given to different modalities of information about newborn screening (by whom, when, how, etc.) (Multiple Choice Questions) |  | November 2023 | 
| Parent opinion on newborn screening for Spinal Muscular Atrophy, Duchenne muscular dystrophy, BRCA-related breast and ovarian cancer predisposition syndrome and congenital long QT | (5-point Likert scale for agreement and thematic content analysis of the free comment areas) | November 2023 | 
| Parent's views on the use of genetic testing in expanded newborn screening (Likert scales) |  | November 2023 | 
| Description of acceptability of expanded newborn screening to parents of a sick child (Thematic content analysis) |  | April 2024 |