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A Study of Consent Forms for Whole Exome and Whole Genome Sequencing

Completed
Conditions
Whole Genome Sequencing
Registration Number
NCT01927770
Lead Sponsor
National Human Genome Research Institute (NHGRI)
Brief Summary

Background:

The purpose of this study is to investigate the process of consenting participants to whole exome/genome sequencing and its outcomes. It is unknown how best to consent people to this new technology. NO GENOME SEQUENCING IS OFFERED AS PART OF THIS STUDY. This protocol is a companion to other NIH studies that involve genomic sequencing. Participants must be enrolled in a parent NIH study that is collaborating on this consent study to be eligible. Currently this involves only one NIH study.

Objectives:

- To learn the best way to help participants understand sequencing, so they can decide whether to join studies that use it.

Eligibility:

* Adults at least 18 years old who are enrolled in a National Institutes of Health (NIH) study that uses WES/WGS.

* Adults at least 18 years old whose children are enrolled in an NIH study that uses WES/WGS.

Design:

* Participants will take part in the study either in person or over the phone.

* Participants will review two sequencing consent forms with a genetic counselor.

* Before and after meeting with the counselor, participants will answer several questions about sequencing. Each questionnaire will take about 15 minutes.

* Six weeks later, participants will answer questions about sequencing. This will take about 15 minutes.

Detailed Description

Consent to participant in studies that include whole exome and whole genome sequencing (WES/WGS) studies and to receive results present challenges to achieving informed consent due to the scope, depth and uncertainty of the information. NIH Intramural studies increasingly involve WES/WGS to identify elusive primary variants. This umbrella protocol aims to compare an evidence-based consent for WES/WGS to a standard consent in collaboration with ongoing and future NIH studies. An equivocal hypothesis will be tested to evaluate whether informed choice and perceptions of uncertainty differ between two consent

groups. A mixed-methods design is proposed that starts with a qualitative mental-model pilot

study to revise an expert opinion consent intervention by integrating lay-person response

preferences. Following development of this evidence-based intervention, a randomized two- factor design will be used for a quantitative survey study conducted in conjunction with a

number of NIH studies conducting WES/WGS to test for differences between two consent

models. A descriptive analysis of the audiotaped consent process will also be conducted to

assess differences in the content or extent of the process, and related outcomes of satisfaction and decisional conflict will also be assessed.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
212
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
BOngoing

To quantitatively assess changes in understanding, perceptions of uncertainty and informed choice between the two consent interventions, assuming equivalency.

DOngoing

To compare the content, dialogue and time spent in the consent discussions between interventions.

AOngoing

To contrast the efficacy of an evidence-based streamlined consent model (based upon the integration of an expert opinion model and laypersons responses using a mental- models approach) to a standard NIH consent in consenting adult and parent participants to undergo WES/WGS within NIH Intramural studies.

COngoing

To describe satisfaction,decisional conflict and residual questions and concerns following use of each consent intervention.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

🇺🇸

Bethesda, Maryland, United States

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