Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs

NCT03288727 | Completed

• 1 other identifier: OLIVIER-FAIVRE PREPS 2016
• Study Type: interventional
• Target: 342
• Locations: 1 country
• Sites: 3

Brief Summary

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.

Conditions

Development Disorders

Outcome Measures

Primary Outcomes (3)

• Questionnaires on the expectations of patients/parents with regard to incidental findings (IF)

  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.

  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.

  at 12 months after the inclusion

Study Arms (2)

Negative IF result

EXPERIMENTAL

Other: interviews with a psychologist

Positive IF result

EXPERIMENTAL

Other: interviews with a psychologist

Interventions

interviews with a psychologist OTHER

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.

Negative IF result; Positive IF result

Eligibility Criteria

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

You may qualify if:

• Adults or parents of of deceased foetuses/children (alive or deceased) or adults living under guardianship or deceased, with Development Disorders(DD) who will undergo WES for the first time for diagnostic purposes
• Consent to take part in the study
• Desire to screen for at least one group of IF
• Able to speak fluent French.

You may not qualify if:

• Patients withough national health insurance cover
• Absence of consent from the patient or his/her legal representative

Sponsors & Collaborators

• Centre Hospitalier Universitaire Dijon: lead

Study Sites (3)

CHU Dijon Bourgogne

Dijon, 21079, France

Location

Hospices Civils de Lyon

Lyon, 69000, France

Location

Groupe Hospitalier Pitié-Salpêtrière

Paris, 75013, France

Location

MeSH Terms

Interventions

Interviews as Topic

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 18, 2017
• First Posted: September 20, 2017
• Study Start: November 13, 2017
• Primary Completion: November 24, 2021
• Study Completion: November 24, 2021
• Last Updated: September 14, 2022

Record last verified: 2022-09

Locations

FR (3)