Acceptability of Expanded Newborn Screening to Parents in France With or Without Genetics in the First Line (SeDeN-p3)

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.).

Study Overview

• Status: Completed
• Conditions: Expanded Newborn Screening; Parental Acceptability
• Intervention / Treatment: Other: Questionnaire; Other: Interview

• Study Type: Observational
• Enrollment (Actual): 1585

Contacts and Locations

Study Locations

• France
  • Clamart, France, 92140
    • Hopital Antoine Beclere - Aphp
  • Dijon, France, 21000
    • CHU Dijon Bourgogne
  • Paris, France, 75015
    • Hôpital Necker - Enfants Malades
  • Vesoul, France, 70000
    • Groupe Hospitalier de La Haute-Saône

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Parents or co-parents in France with a sick child or not

Description

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)

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Population 1Q; Parents or co-parents of a newborn child.	Other: Questionnaire; 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.; Other: Interview; Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway
Population 2; Parents or co-parents whose youngest child is 1 week to 3 years old.	Other: Questionnaire; 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.
Population 3; Parents or co-parents whose child had a suspicious newborn screening result that was confirmed at the diagnosis phase (except hearing).	Other: Interview; Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway
Population 4; 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; Semi-structured interview to explore parental representations on the extension of newborn screening and - if concerned - to retrace the screening/diagnosis/care management pathway

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire Dijon

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2022
• Primary Completion (Actual): June 1, 2023
• Study Completion (Actual): June 1, 2023

Study Registration Dates

• First Submitted: October 18, 2023
• First Submitted That Met QC Criteria: October 26, 2023
• First Posted (Actual): November 1, 2023

Study Record Updates

• Last Update Posted (Actual): November 1, 2023
• Last Update Submitted That Met QC Criteria: October 26, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Other Study ID Numbers: OLIVIER-FAIVRE 2021-2

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No