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

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

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

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. 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-through
   

   Detailed Summary:
   Sponsor: Centre Hospitalier Universitaire Dijon
   

   Current Primary Outcome: 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 ]
   
   

   Original Primary Outcome: Same as current
   
   

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

   Original Secondary Outcome: Same as current
   
   Information By: Centre Hospitalier Universitaire Dijon
   

   Dates:
   Date Received: June 16, 2016
   Date Started:
   Date Completion:
   Last Updated: June 23, 2016
   Last Verified: August 2014