Healthy VolunteersNCT00410241
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
An observational study of Healthy Volunteers and Atherosclerotic Heart Disease, run by National Human Genome Research Institute (NHGRI) at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 to 95 years
- Conditions the study is for
- Healthy Volunteers, Atherosclerotic Heart Disease
- How many people
- 1,665 participants
- Where
- 2 sitesUnited States
- Study dates
- 5 Jan 2007to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 6 to 95 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants in Groups A reside in the local area or were willing to return up to once per year at their own expense and be the age of 45-65 (or 18-65 for A3) unless they have a significant personal/family history of coronary artery disease, in which case we also accepted individuals age 35-65. Participants in Group B were invited to the study by the team and were family members of Group A1, A2, or A3 participants.
Who may be able to join
- Group A
- Recruitment and enrollment to Group A is complete. For the most part, the same inclusion and exclusion criteria and justifications applied to the A1, A2, and A3 cohorts, but exceptions have been noted for some criteria. Overall, those criteria included:
- -Criterion #1 (A1): 25% of the participants in this cohort have known coronary artery disease (CAD), which is defined as history of: myocardial infarction, silent myocardial infarction, stent placement, re-vascularization, 50% or more arterial blockage, a calcium
- score greater than the 95th centile based on their age, gender and race (using the MESA calculator at www.mesa-nhlbi.org/Calcium), or a strong family history of CAD along with a personal history of a potentially CAD-related biochemical phenotype, such as elevated
- lipoprotein (a) (Lp(a)).
- Justification: Because CAD was initially the target phenotype under study, it was critical to include a minimal number of participants with documented disease.
Show all 38Show fewer
- Criterion #2 (A1 \& A2): Individuals eligible for this study are required to be non-smokers at the time of enrollment, for our purposes defined as someone who has not smoked regularly during the previous 12 months (Wilson et al., 1998).
- Justification: Because our study originally aimed to identify the genetic underpinnings of CAD, we excluded individuals who were smokers because it is a significant, known risk factor for CAD.
- -Criterion #3 (A1 and A2): Individuals without CAD must be 45-65 years of age, and individuals with CAD must be 35-65 years of age.
- Justification: We selected our age range based on the manifestations of our target phenotype. We selected the lower limit of this cutoff in order to recruit a cohort whose coronary artery calcification (CAC) measurements range from normal to diseased, and it has been shown that abnormal CAC is infrequent below this age (Janowitz, Agatston, Kaplan, \& Viamonte, 1993). The lower limit of the age range
- has been expanded in the case of CAD participants to allow for the enrollment of individuals with particularly severe personal or family history of cardiovascular disease. An upper age limit of 65 was chosen to allow for longitudinal study of participants.
- -Criterion #4 (A3): Individuals must be 18-65 years of age.
- Justification: As with the A1 and A2 cohort, an upper age limit of 65 was chosen to allow for longitudinal study of participants. However, in contrast to the A1 and A2 cohorts, a lower age limit of 18 was chosen because we are no longer primarily interested in a cardiovascular disease phenotype.
- -Criterion #5 (All Cohorts): Subjects must reside in the metropolitan DC and Baltimore areas or travel to the CRC on a regular basis for follow-up, or be willing to travel to the NIH as needed for protocol participation at their own expense (with the exception of some participants with CAD who had extremely compelling personal or family history of disease and we agreed to cover the cost of their transportation, meals and lodging covered for clinical visits because they could not otherwise participate).
- Justification: This criterion is designed to minimize subjects reluctance to participate in ongoing study activities, such as ancillary studies and return to receive genetic testing results.
- -Criterion #6: First-degree relatives of enrolled ClinSeq participants are not eligible unless they fall into Group B.
- Justification: These individuals share on average 50% of their genes on autosomal loci, thus possibly reducing the power of a study, such as ClinSeq , with a focus on common diseases.
- Criterion #7: Individuals who are directly involved with gathering and analyzing the clinical and genotyping data, including the Principal Investigator, the Associate Investigators, the ClinSeq staff involved with the subjects at the clinical level (such as the Nurse Practitioner, Genetic counselor, etc.), and the staff at NISC involved with generating and analyzing the sequence data are ineligible.
- Justification: Participation of these individuals may present a conflict of interest (COI) and lead to adverse events (AEs).
- -Criterion #9: Individuals who are already enrolled in another study that provides genome or exome sequencing, such as the GENE-FORECAST Study (14-HG0048) are ineligible.
- Justification: The results that we provide will no longer be needed by the participant. In addition, the results will no longer be novel to the participant, making them ineligible for all social and behavioral research aimed at understanding the impact of return of results. Because this severely limits their participation in the project, we propose to exclude these participants.
- -Criterion #11: Adults who cannot or may become unable to consent are excluded from this study.
- Justification: Because the study is interested in learning how people make consent decisions, their attitudes, and use of personal testing results, these individuals are excluded from the project.
- The following participants are/were eligible for projects related to Objectives 1A-C \& 2:
- Objective 1A: Participants eligible for this project must be over 18 years old and have received a medically actionable genetic result in the last six months.
- --Justification: Only individuals with a result can be interviewed and surveyed because we are interested in their experiences.
- Objective 1B: Recruitment and data collection are complete. Eligibility criteria included: (1) consenting to the ClinSeq project between 2012-2018, (2) completion of the Baseline Survey, and (3) being over 18 years old.
- Objective 1C: Recruitment and data collection are complete. Eligibility for inclusion in this project were based on: (1) having a negative secondary finding report available from exome sequence data analysis, and (2) consenting to participate in a randomized control trial of results return.
- Justification: Only participants with negative secondary findings results were included in the study since the project is focused initially on return of these results only.
- Objective 2: Recruitment and data collection are complete. Participants eligible for this group had a variant of interest identified in a gene/genes related to diabetes or other metabolic diseases related to glucose metabolism.
- --Justification: We are interested in understanding whether specific genetic variants have phenotypic consequences thus, having a variant is required for inclusion of a subject s data in our dataset.
- Group B
- Recruitment and enrollment to Group B is closed. The eligibility for Group B was distinct from Group A. Group B eligibility required:
- -Criterion #1: Having a relative enrolled in Group A
- --Justification: There are were two justifications for including relatives in Group B of the study. The first is that we wished to initiate standard of care approaches for known disease entities. For example, it is clinically indicated to perform family studies of relatives of persons with familial hypercholesterolemia to identify persons at high risk for this life-threatening disorder. The second was that we may
- sometimes needed additional genetic data on the families to help us determine if a genetic variant is associated with a disease phenotype (both in cases where we had some evidence of the link between the variant and disease thus the variant was suspected to cause disease and in cases where we had little to no evidence of such a link thus the variant may cause disease).
- -Criterion #2: Being over 18 years old, unless the phenotype under study affects children
- --Justification: We excluded children unless the disease causes symptoms in childhood because of our concern that such genetic testing could pose a risk to these children without known benefit.
Who cannot join
- No Exclusion as the recruitment and enrollment is closed.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Suburban Hospital
Bethesda, Maryland, 20814
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
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:
Read more
- 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 him/her 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.
Read the 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 (e.g., 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.
- Conditions
- Healthy Volunteers, Atherosclerotic Heart Disease
- Keywords
- Genome, Cardiovascular, Volunteers, Genes, Atherosclerosis, Natural History
- Medical subject headings
- Coronary Artery Disease, Atherosclerosis
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 |
|---|---|---|
| A1 | Self-referred individuals 45-65 at enrollment, 25% of whom had coronary artery disease | |
| A2 | Individuals 45-65 at enrollment who self-identified as African, African-American, or Afro-Caribbean | |
| A3 | Adults aged 18-65 at the time of enrollment, including subjects of both sexes, who have been identified as likely to return for follow up | |
| B | Family members of Group A1, A2, or A3 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Recruit & consent cohort
Developing methods for recruiting and consenting a large, racially-diverse cohort
Measured: 2017
Offer cohort as resource
Build and offer this cohort as a resource for addressing biomedical research questions including investigating the association of genomic variants with traits and phenotypes
Measured: 2026
Improvement to algorithms for interpreting sequence data
Continuing to improve upon existing algorithms for generating and interpreting sequence data
Measured: 2026
Health behavior, family communication and understanding
Determining the impacts of LSMS results on health behaviors, family communication and understanding
Measured: 2026
Efficiency of result disclosure
Piloting increasingly efficient models for returning LSMS results
Measured: 2026
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Dec 2006 (estimated)
- Study start5 Jan 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Healthy VolunteersStudies 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
- Other
- Time perspective
- Prospective
- Enrolment
- 1,665 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Leslie G Biesecker, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00410241
- Sponsor's protocol ID
- 070002
- Other IDs
- 07-HG-0002
- Status last verified
- 9 Jun 2026
- First submitted
- 9 Dec 2006
- Last updated
- 18 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: We are actively depositing data into the database of genotypes and phenotypes (dbGaP), which is designed with tiered access to clinical data. That is, there is open, public access to summary clinical data of study participants and qualified investigators may apply for access to individual, coded clinical results. Such access is limited to authorized med researchers and redistribution and security policies are strict. Broad future use of the data deposited into dbGaP (as opposed to restricted use for specific disorders) will be permitted.@@@@@@Sequence traces for individual genes will be available publicly (deposited in GenBank); however, these sequence traces won't be linked to a participant's identifiable information, nor to the sequence traces of other genes sequenced in that participant's sample.@@@@@@Coded genomic data are available to data contributors and NIH intramural investigators through the Reverse Phenotyping Core browser (18-HG-0129; https://tgac.nhgri.nih.gov/).
Publications
Panganamala RV, Sharma HM, Sprecher H, Geer JC, Cornwell DG. A suggested role for hydrogen peroxide in the biosynthesis of prostaglandins. Prostaglandins. 1974 Oct 10;8(1):3-11. doi: 10.1016/0090-6980(74)90031-8. No abstract available.
PubMed 4457956Freed ED, Miller A. An analysis of a continuing medical education questionnaire sent to psychiatrists in the Southern Transvaal. S Afr Med J. 1979 Aug 4;56(5):177-80.
PubMed 45060Huggenvik JI, Craven CM, Idzerda RL, Bernstein S, Kaplan J, McKnight GS. A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. Blood. 1989 Jul;74(1):482-6.
PubMed 2752125Chan PA, Lewis KL, Biesecker BB, Erby LH, Fasaye GA, Epps S, Biesecker LG, Turbitt E. Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort. J Genet Couns. 2021 Dec;30(6):1582-1590. doi: 10.1002/jgc4.1424. Epub 2021 Apr 19.
PubMed 33876469Biesecker BB, Lewis KL, Umstead KL, Johnston JJ, Turbitt E, Fishler KP, Patton JH, Miller IM, Heidlebaugh AR, Biesecker LG. Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. JAMA Intern Med. 2018 Mar 1;178(3):338-346. doi: 10.1001/jamainternmed.2017.8049.
PubMed 29356820
Study at a glance
From the registry record, last updated by the sponsor on 18 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
- ClinicalTrials.gov ID
- NCT00410241
- Acronym / sponsor ID
- 070002
- Conditions
- Healthy Volunteers, Atherosclerotic Heart Disease
- Keywords
- Genome, Cardiovascular, Volunteers, Genes, Atherosclerosis, Natural History
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 1,665 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 5 Jan 2007 (actual)
- First posted
- 12 Dec 2006 (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.
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 him/her 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 (e.g., 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 design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| A1 | – | –Self-referred individuals 45-65 at enrollment, 25% of whom had coronary artery disease |
| A2 | – | –Individuals 45-65 at enrollment who self-identified as African, African-American, or Afro-Caribbean |
| A3 | – | –Adults aged 18-65 at the time of enrollment, including subjects of both sexes, who have been identified as likely to return for follow up |
| B | – | –Family members of Group A1, A2, or A3 |
Who may qualify
- Ages
- 6 to 95 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants in Groups A reside in the local area or were willing to return up to once per year at their own expense and be the age of 45-65 (or 18-65 for A3) unless they have a significant personal/family history of coronary artery disease, in which case we also accepted individuals age 35-65. Participants in Group B were invited to the study by the team and were family members of Group A1, A2, or A3 participants.
Key inclusion criteria (38 listed)
- Group A
- Recruitment and enrollment to Group A is complete. For the most part, the same inclusion and exclusion criteria and justifications applied to the A1, A2, and A3 cohorts, but exceptions have been noted for some criteria. Overall, those criteria included:
- -Criterion #1 (A1): 25% of the participants in this cohort have known coronary artery disease (CAD), which is defined as history of: myocardial infarction, silent myocardial infarction, stent placement, re-vascularization, 50% or more arterial blockage, a calcium
- score greater than the 95th centile based on their age, gender and race (using the MESA calculator at www.mesa-nhlbi.org/Calcium), or a strong family history of CAD along with a personal history of a potentially CAD-related biochemical phenotype, such as elevated
- lipoprotein (a) (Lp(a)).
Key exclusion criteria (1 listed)
- No Exclusion as the recruitment and enrollment is closed.
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
Recruit & consent cohort
Time frame: 2017
Developing methods for recruiting and consenting a large, racially-diverse cohort
Offer cohort as resource
Time frame: 2026
Build and offer this cohort as a resource for addressing biomedical research questions including investigating the association of genomic variants with traits and phenotypes
Improvement to algorithms for interpreting sequence data
Time frame: 2026
Continuing to improve upon existing algorithms for generating and interpreting sequence data
Health behavior, family communication and understanding
Time frame: 2026
Determining the impacts of LSMS results on health behaviors, family communication and understanding
Efficiency of result disclosure
Time frame: 2026
Piloting increasingly efficient models for returning LSMS results
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Aug 2026.
- Background: PubMed 4457956Panganamala RV, Sharma HM, Sprecher H, Geer JC, Cornwell DG. A suggested role for hydrogen peroxide in the biosynthesis of prostaglandins. Prostaglandins. 1974 Oct 10;8(1):3-11. doi: 10.1016/0090-6980(74)90031-8. No abstract available.
- Background: PubMed 45060Freed ED, Miller A. An analysis of a continuing medical education questionnaire sent to psychiatrists in the Southern Transvaal. S Afr Med J. 1979 Aug 4;56(5):177-80.
- Background: PubMed 2752125Huggenvik JI, Craven CM, Idzerda RL, Bernstein S, Kaplan J, McKnight GS. A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. Blood. 1989 Jul;74(1):482-6.
- Derived from this study: PubMed 33876469Chan PA, Lewis KL, Biesecker BB, Erby LH, Fasaye GA, Epps S, Biesecker LG, Turbitt E. Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African-American cohort. J Genet Couns. 2021 Dec;30(6):1582-1590. doi: 10.1002/jgc4.1424. Epub 2021 Apr 19.
- Derived from this study: PubMed 29356820Biesecker BB, Lewis KL, Umstead KL, Johnston JJ, Turbitt E, Fishler KP, Patton JH, Miller IM, Heidlebaugh AR, Biesecker LG. Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial. JAMA Intern Med. 2018 Mar 1;178(3):338-346. doi: 10.1001/jamainternmed.2017.8049.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. We are actively depositing data into the database of genotypes and phenotypes (dbGaP), which is designed with tiered access to clinical data. That is, there is open, public access to summary clinical data of study participants and qualified investigators may apply for access to individual, coded clinical results. Such access is limited to authorized med researchers and redistribution and security policies are strict. Broad future use of the data deposited into dbGaP (as opposed to restricted use for specific disorders) will be permitted.@@@@@@Sequence traces for individual genes will be available publicly (deposited in GenBank); however, these sequence traces won't be linked to a participant's identifiable information, nor to the sequence traces of other genes sequenced in that participant's sample.@@@@@@Coded genomic data are available to data contributors and NIH intramural investigators through the Reverse Phenotyping Core browser (18-HG-0129; https://tgac.nhgri.nih.gov/).
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Screening Protocol
Pain
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.
Leslie G Biesecker, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Healthy Volunteers and Atherosclerotic Heart Disease, run by National Human Genome Research Institute (NHGRI) at 2 sites 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 38 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: under way, not looking for participants, as of the sponsor's last update on 18 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
This study is still under way. Results are not available in the source record yet.
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?
Recruit & consent cohort (time frame: 2017). The study lists 5 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 NCT00410241, which also lists 5 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 18 Aug 2026.