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CancerNCGENESNCT01969370

NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing

A study testing Experimental in people with Cancer and Cardiovascular Disease, run by University of North Carolina, Chapel Hill at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. Read more about this study

Who is it for?
Any age
What is being tested?
Experimental
Could I receive a placebo?
No, everyone receives an active treatment
How many people
645 participants
Where
1 siteUnited States
Study dates
Aug 2012to 1 Mar 2017
Phase
Interventional
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 Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult
  • To receive whole exome sequencing in the study, adult or child patients must have a significant chance of having a genetic disorder, as determined by experts on the study team using criteria that depend on the genetic disorder in question. Representative criteria are listed below and will be considered together to determine whether patterns indicate a likely genetic etiology.

Cancer

  • Age of diagnosis
  • Presence of bilateral (or multiple) cancers
  • Diagnosis of a rare type of cancer
  • Details of the family history

Cardiovascular Conditions

  • Certain clinical findings, such as prolonged QT interval on electrocardiogram.
  • Presence of hypertrophic cardiomyopathy or aortic aneurysm
  • Age of diagnosis
  • Presence of family history

Pediatric neurodevelopmental disorders

  • Specific brain structural brain abnormalities
  • Presence of certain seizure types
  • Dysmorphic features

Trial locations and contacts

1 site in 1 country.

United States1 site

  • University of North Carolina at Chapel Hill

    Chapel Hill, North Carolina, 27599

Other trials in United States

About this study

This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. This sub-project is investigating benefits and harms of providing WES diagnostic and different types of incidental findings to adult patients and parents of pediatric patients who undergo WES because they have symptoms suggesting genetic disease.

Read the detailed description

This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. Participants are patients who were either seen in the University of North Carolina Cancer and Adult Genetics Clinic or referred to the study by their physician. They will be approached by their physician or a genetic counselor for recruitment. Once enrolled, a clinical geneticist or genetic counselor will obtain consent and collect blood samples to be analyzed using WES. Results may include information related to a diagnosis and incidental information. Medically actionable incidental findings will be CLIA (Clinical Laboratory Improvement Amendments)-certified and returned to participants in a routine genetic counseling session, along with diagnostic findings. Eligible adult participants will be randomized to have the opportunity to choose to get certain types of non-medically actionable incidental findings, as well. Their decisions will be investigated, as will psychosocial and behavioral responses to sequencing and receiving sequencing information. This is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return of results, with both quantitative and qualitative methods used to gather data). Because only the quantitative component of the study uses randomization, only measures and procedures associated with that component are described here.

Being tested
Experimental
Keywords
Cancer, Cardiovascular disease, Neurodegenerative disease, Neurodevelopmental disease, Dysmorphology, Hearing loss, Other conditions, including ophthalmic conditions
Medical subject headings
Neoplasms, Cardiovascular Diseases, Neurologic Manifestations, Congenital Abnormalities, Hearing Loss, Neurodegenerative Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • ExperimentalBehavioural

    Option to request non-medically actionable incidental information (after receiving education about them)

Study groups in NCT01969370
Study groupRoleWhat they receive
ExperimentalExperimentalOption to request non-medically actionable incidental information (after receiving education about them)
Receives: Behavioral: Experimental
ControlNo interventionNo option to request non-medically actionable incidental information

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Extent of test-specific distress 2 weeks after return of results

    Measured with an adapted version of the multidimensional impact of testing scale (MICRA)

    Measured: 2 weeks after return of diagnostic results; for adult patient participants who are eligible and who request them, 2 weeks after return of non-medically actionable incidental results

Secondary outcomes (18)

  1. Change in test-specific distress at 3 and 6 months after return of results

    Measure is an adapted version of the multidimensional impact of testing scale MICRA)

    Measured: Adult patient participants: change from 2 weeks after return of diagnostic results to 3 months and 6 months after return of diagnostic results

  2. Extent of communication of test results with other people

    Motivations of communications will also be assessed and examined for descriptive analyses.

    Measured: 2 weeks after return of diagnostic results

  3. Extent of information seeking

    Participants will answer questions about the extent to which they sought information about whole exome sequencing and results it produces. Questions also ask about sources of that information (e.g., the Internet, doctors) to provide descriptive data about how participants get information.

    Measured: 2 weeks after consent (T1) and change from T1 to 2 weeks after return of diagnostic results

  4. Extent of Decision Regret 2 weeks after consent

    Measured: All participants: 2 wks after consent (T1)

  5. Extent of Decision Regret 2 weeks after return of results

    Also administered 2 wks after return of non-medically actionable incidental results for eligible adult patient participants who request them.

    Measured: All participants: 2 wks after return of diagnostic (dx) results and, for eligible adults who request them, return of incidental results

  6. Change in decision regret

    Measured: For all participants: Change from post-consent to post-return of results; Additional for adults: change at 3 and 6 months after return of dx results

  7. Extent of Healthcare Utilization 2 weeks after consent

    Measured: All participants: 2 wks after consent (T1)

  8. Extent of Healthcare Utilization 2 weeks after return of results

    Measured: All participants: 22 wks after return of diagnostic (dx) results

  9. Change in Healthcare Utilization

    Measured: All participants: Change in utilization from post-consent to post-return of results; Additional for adult patients: Change at 3 and 6 months after return of dx results

  10. Enactment of health-related lifestyle behaviors 2 weeks after consent

    Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.

    Measured: Adult participants: 2 wks after consent (T1)

  11. Enactment of health-related lifestyle behaviors 2 weeks after return of results

    Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.

    Measured: Adult participants: 2 wks after return of diagnostic (dx) results

  12. Change in enactment of health-related lifestyle behaviors

    Behaviors include those related to diet, physical activity, smoking, drinking, and substance use.

    Measured: Adult participants: Change in behaviors from 2 wks after consent (T1) to 2 wks, 3 months, and 6 months after return of dx results

  13. Extent of psychological distress 2 weeks after consent

    Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale

    Measured: All participants: 2 wks after consent

  14. Extent of psychological distress 2 weeks after return of results

    Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale

    Measured: All participants: 2 wks after return of diagnostic (dx) results

  15. Change in extent of psychological distress

    Symptoms of depression and anxiety measured with the Hospital Anxiety and Depression Scale

    Measured: All participants: Change from 2 wks after consent (T1) to 2 wks after return of diagnostic (dx) results; Additional for adult patients: Change at 3 and 6 months after return of dx results

  16. Extent of health-related Quality of Life 2 weeks after consent

    Measured with the Medical Outcomes Study Short Form-12

    Measured: All participants: 2 wks after consent (T1)

  17. Extent of health-related Quality of Life 2 weeks after return of results

    Measured with the Medical Outcomes Study Short Form-12

    Measured: All participants: 2 wks after return of diagnostic results

  18. Change in extent of health-related Quality of Life

    Measured with the Medical Outcomes Study Short Form-12

    Measured: All participants: Change from 2 wks after consent to 2 weeks after return of diagnostic results

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted25 Oct 2013 (estimated)
  2. Study startAug 2012
  3. Primary completion1 Mar 2017
  4. Study completion1 Mar 2017

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase N/A
Primary purpose
Other
Allocation
Randomised
Intervention model
Parallel groups
Masking
Single blind
Who is masked
Outcomes assessor
Enrolment
645 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01969370
Sponsor's protocol ID
11-1865
Other IDs
U01HG006487
Acronym
NCGENES
Status last verified
May 2017
First submitted
16 Oct 2013
Last updated
3 May 2017
Results posted
No
Data monitoring committee
Yes
Individual data sharing
Yes: Raw genotype calls from whole exome sequencing are shared with the database of Genotypes and Phenotypes (dbGaP). Other participant demographic variables include: age of onset, birthplace, sex, race, education level, age. Data is uploaded in batches to the dbGaP website. Currently, the data for 403 participants who have consented for release of their data is available on the dbGaP website. To access data, users must request authorized access by submitting a Data Use Agreement certified by their institution. This is reviewed by the DbGaP Data Access Committee for approval prior to accessing study data. All data that is submitted to dbGaP, including individual participant data, is anonymous.

Publications

  • Rini C, Roche MI, Lin FC, Foreman AKM, Khan CM, Griesemer I, Waltz M, Lee K, O'Daniel JM, Evans JP, Berg JS, Henderson GE. Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial. Patient Educ Couns. 2021 Dec;104(12):2989-2998. doi: 10.1016/j.pec.2021.04.026. Epub 2021 Apr 29.

    PubMed 33966955

Questions about this trial

What is this clinical trial studying?

A study testing Experimental in people with Cancer and Cardiovascular Disease, run by University of North Carolina, Chapel Hill at 1 site in United States.

The full registered description is in the About this study section and the official record.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 3 May 2017. 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?

Extent of test-specific distress 2 weeks after return of results (time frame: 2 weeks after return of diagnostic results; for adult patient participants who are eligible and who request them, 2 weeks after return of non-medically actionable incidental results). 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 NCT01969370, which also lists 1 linked publication.

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 3 May 2017; AzTrials last refreshed its copy on 6 Nov 2026.

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