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

NCT01927770 | Completed

• 2 other identifiers: 13017113-HG-0171
• Study Type: observational
• Target: 212
• Locations: 1 country
• Sites: 1

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.

Conditions

Whole Genome Sequencing

Keywords

WES; Informed Consent; WGS

Outcome Measures

Primary Outcomes (4)

• A

  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.

  Ongoing

• B

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

  Ongoing

• C

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

  Ongoing

• D

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

  Ongoing

Study Arms (1)

WES/WGS

Eligible adults (or parents of eligible children) consenting to enroll in an NIH study thatincludes WES/WGS.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Parents and eligible children.

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (4)

• Ayuso C, Millan JM, Mancheno M, Dal-Re R. Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process. Eur J Hum Genet. 2013 Oct;21(10):1054-9. doi: 10.1038/ejhg.2012.297. Epub 2013 Jan 16.

  PMID: 23321621 BACKGROUND

• Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program; Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009 Sep;19(9):1665-74. doi: 10.1101/gr.092841.109. Epub 2009 Jul 14.

  PMID: 19602640 BACKGROUND

• Dormandy E, Michie S, Hooper R, Marteau TM. Low uptake of prenatal screening for Down syndrome in minority ethnic groups and socially deprived groups: a reflection of women's attitudes or a failure to facilitate informed choices? Int J Epidemiol. 2005 Apr;34(2):346-52. doi: 10.1093/ije/dyi021. Epub 2005 Feb 28.

  PMID: 15737971 BACKGROUND

• Turbitt E, Chrysostomou PP, Peay HL, Heidlebaugh AR, Nelson LM, Biesecker BB. A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study. Eur J Hum Genet. 2018 May;26(5):622-630. doi: 10.1038/s41431-018-0105-7. Epub 2018 Feb 16.

  PMID: 29453419 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

Study Officials

• Julie Sapp

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 20, 2013
• First Posted: August 23, 2013
• Study Start: December 16, 2013
• Primary Completion: March 7, 2016
• Study Completion: November 8, 2021
• Last Updated: November 10, 2021

Record last verified: 2021-11

Locations

US (1)