Whole Genome SequencingNCT01927770
A Study of Consent Forms for Whole Exome and Whole Genome Sequencing
An observational study of Whole Genome Sequencing, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Whole Genome Sequencing
- How many people
- 212 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Dec 2013to 8 Nov 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Parents and eligible children.
Who may be able to join
- 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.
Who cannot join
- 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).
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Randomized Trial of Consent Interventions for NIH Whole Exome and Whole Genome Sequencing Studies
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.
Read more
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.
Read the 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.
- Conditions
- Whole Genome Sequencing
- Keywords
- WES, Informed Consent, WGS
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| WES/WGS | Eligible adults (or parents of eligible children) consenting to enroll in an NIH study thatincludes WES/WGS. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Ongoing
B
To quantitatively assess changes in understanding, perceptions of uncertainty and informed choice between the two consent interventions, assuming equivalency.
Measured: Ongoing
C
To describe satisfaction,decisional conflict and residual questions and concerns following use of each consent intervention.
Measured: Ongoing
D
To compare the content, dialogue and time spent in the consent discussions between interventions.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Aug 2013 (estimated)
- Study start16 Dec 2013
- Primary completion7 Mar 2016
- Study completion8 Nov 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Whole Genome SequencingStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 212 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Julie Sapp, Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01927770
- Sponsor's protocol ID
- 130171
- Other IDs
- 13-HG-0171
- Status last verified
- Nov 2021
- First submitted
- 20 Aug 2013
- Last updated
- 10 Nov 2021
- Results posted
- No
Publications
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.
PubMed 23321621Biesecker 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.
PubMed 19602640Dormandy 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.
PubMed 15737971Turbitt 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.
PubMed 29453419
Study at a glance
From the registry record, last updated by the sponsor on 10 Nov 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Randomized Trial of Consent Interventions for NIH Whole Exome and Whole Genome Sequencing Studies
- ClinicalTrials.gov ID
- NCT01927770
- Acronym / sponsor ID
- 130171
- Conditions
- Whole Genome Sequencing
- Keywords
- WES, Informed Consent, WGS
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 212 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 16 Dec 2013 (actual)
- Primary completion
- 7 Mar 2016 (actual)
- Study completion
- 8 Nov 2021 (actual)
- First posted
- 23 Aug 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| WES/WGS | – | –Eligible adults (or parents of eligible children) consenting to enroll in an NIH study thatincludes WES/WGS. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Parents and eligible children.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
A
Time frame: 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
Time frame: Ongoing
To quantitatively assess changes in understanding, perceptions of uncertainty and informed choice between the two consent interventions, assuming equivalency.
C
Time frame: Ongoing
To describe satisfaction,decisional conflict and residual questions and concerns following use of each consent intervention.
D
Time frame: Ongoing
To compare the content, dialogue and time spent in the consent discussions between interventions.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Nov 2021.
- Background: PubMed 23321621Ayuso 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.
- Background: PubMed 19602640Biesecker 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.
- Background: PubMed 15737971Dormandy 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.
- Derived from this study: PubMed 29453419Turbitt 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Julie Sapp principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Whole Genome Sequencing, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 10 Nov 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
A (time frame: Ongoing). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01927770, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Nov 2021.