An interventional study of interviews with a psychologist in Development Disorders, sponsored by Centre Hospitalier Universitaire Dijon. Completed at 3 sites in France. Per ClinicalTrials.gov, last updated 2022-09-14.
Sponsored by Centre Hospitalier Universitaire Dijon · Not applicable, Interventional, and Diagnostic
High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic consultation), but it may also lead to the discovery of mutations not related to the patient's disease. These findings are called "incidental findings" (IF) and may give rise to preventive or curative interventions in a personalised medicine approach.
The question of proposing to patients access to all or part of these findings is a matter of debate in France and elsewhere. This question has given rise to new challenges and new needs that professionals must respond to by implementing appropriate management and new skills. It raises specific ethical issues, which require precise understanding of the expectations and experiences of patients. Patients' diagnostic trajectories must also meet criteria for efficacy and financial and organisational sustainability for the healthcare establishments and, for the healthcare system. Our project aims to assess the expectations of patients/parents with regard to this opportunity, and to determine how information should be provided to patients and how they should be accompanied to ensure efficient and appropriate management.
Exclusion Criteria:
Other: interviews with a psychologist
Other: interviews with a psychologist
an interview with a psychologist / sociologist will take place after completion of the on-site questionnaires to find out the reasons for their choice of accessing their secondary data and their experiences with the secondary data reported.
Questionnaires on the expectations of patients/parents with regard to incidental findings (IF)
Time frame: first day of the study
1) Questionnaires on their experience following the disclosure of IF (positive and negative), and their perception, needs and expectations with regard to the way the results are given.
Time frame: at 6 months after the inclusion
2) Questionnaires on the repercussions of access to IF, in terms of experience/ appropriation of the results, needs and expectations in terms of accompaniment following disclosure of the results, and the recourse to care.
Time frame: at 12 months after the inclusion
This study is completed, as verified in Sep 2022. You cannot join it, but the record below documents what was studied.
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Centre Hospitalier Universitaire Dijon