The Genomic Ascertainment Cohort
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | 2 - 99 |
| Updated: | 4/6/2019 |
| Start Date: | April 10, 2019 |
| End Date: | December 29, 2028 |
| Contact: | Katie L Lewis |
| Email: | katie.lewis2@nih.gov |
| Phone: | (301) 594-3063 |
The Genomic Ascertainment Cohort (TGAC)
Background:
Genes tell a person s body how to grow and work. All people have variations in their genes.
Some of these cause differences that show up in a person s traits or their health. Others do
not. Researchers want to gather more data on people based on their genes. They want to use
this data to learn more about diseases and possible treatments.
Objectives:
To develop a group of people and their genetic data who can be contacted again for
phenotyping. To share those data with other researchers and make them searchable.
Eligibility:
People already enrolled in a wide variety of protocols. They will be of varying health
status, age, and gender. They will have had or plan to have exome or genome sequencing under
their protocol. They can be re-contacted by the research team for possible other studies.
Design:
Participants will give basic details like contact and demographic information.
Participants may answer questions about their personal health history, their family medical
history, or their thoughts or reactions to data.
Participants may have basic health tests. Their height, weight, or blood pressure may be
checked.
Participants may have tests of heart function. They may have an ultrasound or other
non-invasive test.
Participants may provide blood, urine, or other samples.
Participants may have scans or other tests.
Participants will get the results of all clinical tests in a letter.
If any tests are abnormal, someone from the study will call the participant to explain what
the results mean and what to do about them.
Participants will get genetic testing results only if researchers think they could affect the
health of the participant or their relatives.
Genes tell a person s body how to grow and work. All people have variations in their genes.
Some of these cause differences that show up in a person s traits or their health. Others do
not. Researchers want to gather more data on people based on their genes. They want to use
this data to learn more about diseases and possible treatments.
Objectives:
To develop a group of people and their genetic data who can be contacted again for
phenotyping. To share those data with other researchers and make them searchable.
Eligibility:
People already enrolled in a wide variety of protocols. They will be of varying health
status, age, and gender. They will have had or plan to have exome or genome sequencing under
their protocol. They can be re-contacted by the research team for possible other studies.
Design:
Participants will give basic details like contact and demographic information.
Participants may answer questions about their personal health history, their family medical
history, or their thoughts or reactions to data.
Participants may have basic health tests. Their height, weight, or blood pressure may be
checked.
Participants may have tests of heart function. They may have an ultrasound or other
non-invasive test.
Participants may provide blood, urine, or other samples.
Participants may have scans or other tests.
Participants will get the results of all clinical tests in a letter.
If any tests are abnormal, someone from the study will call the participant to explain what
the results mean and what to do about them.
Participants will get genetic testing results only if researchers think they could affect the
health of the participant or their relatives.
The Genomic Ascertainment Cohort (TGAC) will be a large cohort of individuals with sequence
data unselected for any specific phenotype. TGAC will enable the study of genetic disease
while minimizing the bias of phenotypic ascertainment.
TGAC will have a two-tiered system of participation. Tier 1 will be individuals who have
undergone or consented for exome or genome sequencing under separate studies and consented to
data sharing and re-contact by the research team. Sequencing data from all participants will
be aggregated to form the Shared Genomic Ascertainment Cohort (SGAC) which will be available
to NIH investigators and extramural investigators participating in TGAC via a genome browser,
such that it is de-identified and visible as unlinked aggregate genotypes.
Investigators will be able to use the genome browser to select genetic variants of interest
and formulate hypotheses. Investigators will apply to the TGAC program with a scientific
proposal describing the phenotyping that is requested. These proposals will be reviewed and
prioritized by the TGAC scientific advisory committee (SAC). The TGAC staff will then
facilitate re-contact and sample collection and/or phenotypic studies on individuals based on
genetic variants of interest. These individuals will be offered Tier 2 participation via an
investigator s own protocol or via the Genomic Ascertainment Phenotyping Program (GAPP). The
GAPP will include the ability to perform basic, non-invasive phenotypic studies using the
NIHCC. The GAPP will return results from clinical tests performed and will also be able to
return sequence variants deemed clinically relevant and validated in a CLIA-certified lab.
The specific phenotyping will depend on the nature of the hypothesis regarding the genetic
variant or variants of interest.
The SGAC will initially consist of genome or exome sequence data from approximately 8,000
individuals from the ITMI longitudinal study and NHGRI s ClinSeq (Registered Traemark) study
(Biesecker et al., 2009), with planned increases in sample size as additional cohorts are
added to the shared cohort. We anticipate approximately 200 individuals from SGAC will be
enrolled into Tier 2 participation in the first year after establishment of TGAC.
As a data resource, there are no predefined outcome measures. We expect TGAC to generate
hypotheses regarding phenotypic consequence of genetic variants and enable the study of such
hypotheses without the limits of traditional phenotype-first genetic research.
data unselected for any specific phenotype. TGAC will enable the study of genetic disease
while minimizing the bias of phenotypic ascertainment.
TGAC will have a two-tiered system of participation. Tier 1 will be individuals who have
undergone or consented for exome or genome sequencing under separate studies and consented to
data sharing and re-contact by the research team. Sequencing data from all participants will
be aggregated to form the Shared Genomic Ascertainment Cohort (SGAC) which will be available
to NIH investigators and extramural investigators participating in TGAC via a genome browser,
such that it is de-identified and visible as unlinked aggregate genotypes.
Investigators will be able to use the genome browser to select genetic variants of interest
and formulate hypotheses. Investigators will apply to the TGAC program with a scientific
proposal describing the phenotyping that is requested. These proposals will be reviewed and
prioritized by the TGAC scientific advisory committee (SAC). The TGAC staff will then
facilitate re-contact and sample collection and/or phenotypic studies on individuals based on
genetic variants of interest. These individuals will be offered Tier 2 participation via an
investigator s own protocol or via the Genomic Ascertainment Phenotyping Program (GAPP). The
GAPP will include the ability to perform basic, non-invasive phenotypic studies using the
NIHCC. The GAPP will return results from clinical tests performed and will also be able to
return sequence variants deemed clinically relevant and validated in a CLIA-certified lab.
The specific phenotyping will depend on the nature of the hypothesis regarding the genetic
variant or variants of interest.
The SGAC will initially consist of genome or exome sequence data from approximately 8,000
individuals from the ITMI longitudinal study and NHGRI s ClinSeq (Registered Traemark) study
(Biesecker et al., 2009), with planned increases in sample size as additional cohorts are
added to the shared cohort. We anticipate approximately 200 individuals from SGAC will be
enrolled into Tier 2 participation in the first year after establishment of TGAC.
As a data resource, there are no predefined outcome measures. We expect TGAC to generate
hypotheses regarding phenotypic consequence of genetic variants and enable the study of such
hypotheses without the limits of traditional phenotype-first genetic research.
- INCLUSION CRITERIA:
- Participants in SGAC must have exome or genome sequencing available that collaborators
have permission to share for inclusion in our browser.
- Participants in TGAC tier 2 must be re-contactable by the primary study team (e.g.,
the collaborator who contributes their data must be able to contact the participants).
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
301-496-2563
Phone: 800-411-1222
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
Click here to add this to my saved trials
