Ignite Creation Date:
2024-05-05 @ 5:14 PM
Last Modification Date:
2024-10-26 @ 9:29 AM
Study NCT ID:
NCT00410241
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2024-06-28
First Post:
2006-12-09
Brief Title:
ClinSeq A Large-Scale Medical Sequencing Clinical Research Pilot Study
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
ClinSeq A Large-Scale Medical Sequencing Clinical Research Pilot Study
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2024-08-14
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This study will examine genome sequencing in clinical research Genome sequencing is a process in which researchers analyze or sequence part or all of the genome from a single person The human genome is the material in cells that includes thousands of genes Gene changes that cause or contribute to disease can be passed on from one generation to the next This study first focuses on heart disease Later researchers hope to study other conditions and genes with the eventual goal of sequencing most or all of participants genes
Participants ages 45 to 65 years of age and who do not smoke may be eligible for this study Patients will come to the NIH Clinical Research Center for an initial study to last about half a day They will donate a blood sample and complete a short survey Then they will meet the genetic counselor to learn more about genome sequencing Those who join the study will undergo the following procedures and evaluations
Family history and medical history
Measurement of height and blood pressure
Noninvasive heart tests including electrocardiogram and echocardiogram
Drawing of about 3 ounces of blood 5 to 6 tablespoons part of the blood sample will be used for research and another part for clinical testing
Multidetector computed tomography CT a test to measure coronary artery calcification that is condition of inflexibility
Each patient will receive a letter with results of the clinical laboratory values and evaluations There will be recommendations for follow-up with the patient s doctors Risks in this study include exposure to radiation from the CT test The radiation amount used is about the same that a person normally receives from natural sources such as from the sun outer space and radioactive materials found naturally in the earth s air and soil Another slight risk involves reactions to a contrast agent that may be used in the echocardiogram Side effects can be headache nausea or vomiting a warm sensation and dizziness
With the samples that patients provide researchers will start by sequencing about 400 genes related to heart disease Analysis will take months to complete Genome sequencing is difficult to do and researchers have much to learn about the genes they sequence and the gene changes they find If the researchers find gene changes that are important to the health of a participant they will contact that participant and give himher the choice of learning such results
This study may or may not have a direct benefit for participants Patients would get free clinical testing for cholesterol diabetes and other conditions as well as information about gene changes Knowledge gained will benefit people in the future as researchers learn about the relationship between gene changes and health
Participants ages 45 to 65 years of age and who do not smoke may be eligible for this study Patients will come to the NIH Clinical Research Center for an initial study to last about half a day They will donate a blood sample and complete a short survey Then they will meet the genetic counselor to learn more about genome sequencing Those who join the study will undergo the following procedures and evaluations
Family history and medical history
Measurement of height and blood pressure
Noninvasive heart tests including electrocardiogram and echocardiogram
Drawing of about 3 ounces of blood 5 to 6 tablespoons part of the blood sample will be used for research and another part for clinical testing
Multidetector computed tomography CT a test to measure coronary artery calcification that is condition of inflexibility
Each patient will receive a letter with results of the clinical laboratory values and evaluations There will be recommendations for follow-up with the patient s doctors Risks in this study include exposure to radiation from the CT test The radiation amount used is about the same that a person normally receives from natural sources such as from the sun outer space and radioactive materials found naturally in the earth s air and soil Another slight risk involves reactions to a contrast agent that may be used in the echocardiogram Side effects can be headache nausea or vomiting a warm sensation and dizziness
With the samples that patients provide researchers will start by sequencing about 400 genes related to heart disease Analysis will take months to complete Genome sequencing is difficult to do and researchers have much to learn about the genes they sequence and the gene changes they find If the researchers find gene changes that are important to the health of a participant they will contact that participant and give himher the choice of learning such results
This study may or may not have a direct benefit for participants Patients would get free clinical testing for cholesterol diabetes and other conditions as well as information about gene changes Knowledge gained will benefit people in the future as researchers learn about the relationship between gene changes and health
Detailed Description:
The purpose of ClinSeq is to research large-scale medical sequencing LSMS in a clinical research setting It was developed at a time approximately 2007 when little was known about the processes and outcomes of doing so By conducting LSMS and returning individual results to participants we intended to investigate some of the technical medical and genetic counseling issues that accompanied the implementation of LSMS in the clinical setting Three of our objectives have been met and the relevant findings have largely been published including
Developing methods for recruiting and consenting a large racially-diverse cohort
Continuing to improve upon existing algorithms for generating and interpreting sequence data
Build and offer this cohort as a resource for addressing biomedical research questions including investigating the association of genomic variants with traits and phenotypes
However there is still much to be learned regarding LSMS much of which is pertinent to our original aim of improving our understanding of socio-behavioral aspects of implementation of LSMS in a clinical research setting Remaining objectives include
To understand patient outcomes eg health behavior communication personal utility emotional following the receipt of medically actionable results
To investigate the impact of an intervention designed to promote better understanding of the
accuracy of genetic sequencing among those consenting to LSMS
To investigate the outcomes of returning negative secondary findings reports via a website and compare two versions of a slide developed to improve women s understanding of their residual risk for breast cancer following the receipt of such a report
To identify genetic risk factors for diabetes and other metabolic diseases related to glucose metabolism
Developing methods for recruiting and consenting a large racially-diverse cohort
Continuing to improve upon existing algorithms for generating and interpreting sequence data
Build and offer this cohort as a resource for addressing biomedical research questions including investigating the association of genomic variants with traits and phenotypes
However there is still much to be learned regarding LSMS much of which is pertinent to our original aim of improving our understanding of socio-behavioral aspects of implementation of LSMS in a clinical research setting Remaining objectives include
To understand patient outcomes eg health behavior communication personal utility emotional following the receipt of medically actionable results
To investigate the impact of an intervention designed to promote better understanding of the
accuracy of genetic sequencing among those consenting to LSMS
To investigate the outcomes of returning negative secondary findings reports via a website and compare two versions of a slide developed to improve women s understanding of their residual risk for breast cancer following the receipt of such a report
To identify genetic risk factors for diabetes and other metabolic diseases related to glucose metabolism
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 07-HG-0002 | None | None | None |