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

February 4, 2026 updated by: Centre Hospitalier Universitaire Dijon

Preferences and Representations Concerning High-throughput Sequencing Technologies in Medical Genetics. The Case of Development Anomalies.

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. 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. 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

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

530

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Dijon, France, 21079
        • Chu Dijon Bourgogne

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Quantitative study

  • INCLUSION CRITERIA

    • 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

  • NON-INCLUSION CRITERIA

    • persons without national health insurance cover
    • inability to answer the questionnaires

Qualitative study

  • INCLUSION CRITERIA

    • 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

  • NON-INCLUSION CRITERIA

    • persons without national health insurance cover
    • cognitive impairment making it impossible for the person to understand the aims of the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Allocation: N/A
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: quantitive study: 500 patients likely to be candidates for HTS
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
Experimental: qualitative study: 30 patients who have benefited from HTS and
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Preferences of families of patients concerning the diffusion of incidental results with uncertain interpretation from high-throughput sequencing prior to whole exome analyses
Time Frame: day one
day one

Secondary Outcome Measures

Outcome Measure
Time Frame
Questionnaire on the experiences, expectations and reactions of families and geneticists with regard to the moment the results are announced
Time Frame: day one
day one

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire Dijon

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Primary Completion (Actual)

February 1, 2016

Study Registration Dates

First Submitted

June 16, 2016

First Submitted That Met QC Criteria

June 23, 2016

First Posted (Estimated)

June 28, 2016

Study Record Updates

Last Update Posted (Actual)

February 6, 2026

Last Update Submitted That Met QC Criteria

February 4, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • OLIVIER-FAIVRE 2014

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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