Evaluate and Understand Preferences and Representations in Families of Patients With Regard to High-throughput Sequencing Technology for Diagnostic Purposes

NCT02814747 | Completed

• 1 other identifier: OLIVIER-FAIVRE 2014
• Study Type: interventional
• Target: 530
• Locations: 1 country
• Sites: 1

Brief Summary

After the use of DNA chips for diagnostic purposes, high-throughput sequencing (HTS) is transforming the field of developmental diseases, from fundamental research to care. Nonetheless, before HTS can be transferred to everyday clinical practice, in particular for expert diagnosis using exome HTS, it is necessary to anticipate the nature of the information to be given to patients and to parents in order to obtain consent for exome HTS. The objective in terms of public health is to allow patients with rare diseases to benefit from innovative technologies in optimal conditions of information and accompaniment. the objectives of this project are to

1. 1.evaluate the preferences of families of patients with development disorders as regard to suspicious and incidental findings from HTS before its introduction for diagnostic purpose,
2. 2.and then, following the exome analyses carried out for diagnostic purposes, describe, analyse and understand the experience, expectations and reactions of families and geneticists concerning the diagnostic trajectory in general and at the time the results of the HTS were announced in particular A methodology that associated quantitative and qualitative approaches was chosen so as to combine the advantages and overcome the shortcomings of each: a quantitative study to investigate a large number of patients, which would ensure a certain representativeness of the population and allow sub-groups analyses to study the upstream phase concerning indications for high-throughput sequencing; and a qualitative study, which though it allows only a small number of patients to be investigated, makes it possible to describe, analyze and understand in depth the complex downstream phenomena of high-throughput sequencing results

Conditions

Rare Diseases

Outcome Measures

Primary Outcomes (1)

• Preferences of families of patients concerning the diffusion of incidental results with uncertain interpretation from high-throughput sequencing prior to whole exome analyses

  day one

Secondary Outcomes (1)

• Questionnaire on the experiences, expectations and reactions of families and geneticists with regard to the moment the results are announced

  day one

Study Arms (2)

quantitive study: 500 patients likely to be candidates for HTS

EXPERIMENTAL

quantitive study: 500 patients likely to be candidates for HTS at CR in Dijon and Lyon, that is to say patients with development anomalies and/or intellectual deficiency with no etiological diagnosis.

Other: quantitive study: 500 patients likely to be candidates for HTS

qualitative study: 30 patients who have benefited from HTS and

EXPERIMENTAL

qualitative study: 30 patients who have benefited from HTS and the medical geneticists who accompanied them in this approach.

Other: qualitative study: 30 patients who have benefited from HTS

Interventions

quantitive study: 500 patients likely to be candidates for HTS OTHER

quantitive study: 500 patients likely to be candidates for HTS

qualitative study: 30 patients who have benefited from HTS OTHER

qualitative study: 30 patients who have benefited from HTS and

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• parents of patients with development anomaly and/or intellectual deficiency with no etiological diagnosis
• parents of patients consulting at the centres of reference in Dijon or Lyon
• parents of patients who have not already benefited from HTS
• parents of patients who are fluent in French
• persons without national health insurance cover
• inability to answer the questionnaires
• Qualitative study
• persons who have provided written informed consent
• parents of patients with a development anomaly
• parents of patients consulting at the centres of reference in Dijon or Lyon
• parents of patients who have already benefited from HTS for diagnostic purposes
• persons fluent in French
• persons without national health insurance cover
• cognitive impairment making it impossible for the person to understand the aims of the study

Sponsors & Collaborators

• Centre Hospitalier Universitaire Dijon: lead

Study Sites (1)

CHU Dijon Bourgogne

Dijon, 21079, France

Location

Related Publications (1)

• Chassagne A, Pelissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marcais N, Thevenon J, Lesca G, Putoux A, Cordier MP, Dupuis-Girod S, Till M, Duffourd Y, Riviere JB, Joly L, Juif C, Putois O, Ancet P, Lapointe AS, Morin P, Edery P, Rossi M, Sanlaville D, Bejean S, Peyron C, Faivre L. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study). Eur J Hum Genet. 2019 May;27(5):701-710. doi: 10.1038/s41431-018-0332-y. Epub 2019 Feb 1.

  PMID: 30710147 RESULT

MeSH Terms

Conditions

Rare Diseases

Interventions

Saline Solution, Hypertonic

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Hypertonic Solutions; Solutions; Pharmaceutical Preparations

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 16, 2016
• First Posted: June 28, 2016
• Primary Completion: February 1, 2016
• Last Updated: February 6, 2026

Record last verified: 2026-02

Locations

FR (1)