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

Randomized Trial of Consent Interventions for NIH Whole Exome and Whole Genome Sequencing Studies

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01927770

Enrollment

212

Registered

2013-08-23

Start date

2013-12-16

Completion date

2021-11-08

Last updated

2021-11-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Whole Genome Sequencing

Keywords

WES, Informed Consent, WGS

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

* INCLUSION CRITERIA: Eligible adults (greater than or equal to 18 years of age) consenting to enroll in an NIH study that includes WES/WGS. Parents of eligible children (\<18 years of age) consenting to enroll their child(ren) in an NIH study that includes WES/WGS. Participants must be cognitively able to consent and fluent in written and spoken English.

Exclusion criteria

Children (\<18 years of age). Non-English speaking participants (until the study has evolved to be able to use translations of the interventions into Spanish).

Design outcomes

Primary

Measure	Time frame	Description
C	Ongoing	To describe satisfaction,decisional conflict and residual questions and concerns following use of each consent intervention.
D	Ongoing	To compare the content, dialogue and time spent in the consent discussions between interventions.
A	Ongoing	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.
B	Ongoing	To quantitatively assess changes in understanding, perceptions of uncertainty and informed choice between the two consent interventions, assuming equivalency.

Countries

United States

Outcome results