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

NCT02814747 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 530

Last updated 2026-02-06

No results posted yet for this study

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. 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

Conditions

Interventions

OTHER

quantitive study: 500 patients likely to be candidates for HTS

OTHER

qualitative study: 30 patients who have benefited from HTS

Sponsors & Collaborators

  • Centre Hospitalier Universitaire Dijon

    lead OTHER

Study Design

Allocation
NA
Masking
NONE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Primary Completion
2016-02-29

Countries

  • France

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02814747 on ClinicalTrials.gov