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

NCT06111456 | Completed

• 1 other identifier: OLIVIER-FAIVRE 2021-2
• Study Type: observational
• Target: 1,585
• Locations: 1 country
• Sites: 4

Brief Summary

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.).

Conditions

Expanded Newborn Screening; Parental Acceptability

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (6)

• 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

  November 2023

• Parent's views on the use of genetic testing in expanded newborn screening (Likert scales)

  November 2023

Study Arms (4)

Population 1Q

Parents or co-parents of a newborn child.

Other: Questionnaire; Other: Interview

Population 2

Parents or co-parents whose youngest child is 1 week to 3 years old.

Other: Questionnaire

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

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

Interventions

Questionnaire OTHER

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 1Q; Population 2

Interview OTHER

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 1Q; Population 3; Population 4

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Centre Hospitalier Universitaire Dijon: lead

Study Sites (4)

Hopital Antoine Beclere - Aphp

Clamart, 92140, France

Location

Chu Dijon Bourgogne

Dijon, 21000, France

Location

Hôpital Necker - Enfants Malades

Paris, 75015, France

Location

Groupe Hospitalier de La Haute-Saône

Vesoul, 70000, France

Location

MeSH Terms

Interventions

Surveys and Questionnaires; Interviews as Topic

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 18, 2023
• First Posted: November 1, 2023
• Study Start: September 1, 2022
• Primary Completion: June 1, 2023
• Study Completion: June 1, 2023
• Last Updated: November 1, 2023

Record last verified: 2023-10

Locations

FR (4)