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OpenTrials
Completed

NCT Number: NCT03288727

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

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.

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Key information

Conditions

Development Disorders

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Dijon Bourgogne, Dijon, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

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

Treatment and study plan

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.

Primary outcomes

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

    Time frame: first day of the study

  2. 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

  3. 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

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Official study title

Incidental Findings Produced by Diagnostic HTS: From the Needs of Patients to Organisational Considerations

Acronym: FIND

Important dates

Study start
2017
Primary completion
2021
Study completion
2021
First posted
Sep 20, 2017
Registry last updated
Sep 14, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.