NIAID Centralized Sequencing Protocol
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any - 99 |
| Updated: | 3/10/2019 |
| Start Date: | July 31, 2017 |
| End Date: | July 31, 2032 |
| Contact: | Patricia L Littel, R.N. |
| Email: | plittel@cc.nih.gov |
| Phone: | (301) 402-5964 |
Background:
Genetic testing called sequencing helps researchers look at DNA. Genes are made of DNA and
are the instructions for our bodies to function. We all have thousands of genes. DNA variants
are differences in genes between two people. We all have lots of variants. Most are harmless
and some cause differences like blue or brown eyes. A few variants can cause health problems.
Objective:
To understand the genetics of immune disorders.
Eligibility:
- People ages 0-99 who are have a disease under investigation by another NIAID study that
they are enrolled in
- Relatives of those people
Design:
Participants will give a sample by one of several means.
- Blood drawn by needle, or
- Saliva spit into a tube, or
- A couple of hairs plucked from the head, or
- A fingernail clipping.
Researchers will study the genes from the samples. They will tell participants if they find
results that relate to:
- The participant s (or family s) immune disorder
- Serious treatable diseases (like inherited cancer or heart disease)
- Some uncertain clinical results
Researchers will not routinely tell participants about results that relate to normal variants
or disorders that can t be treated.
The samples and data will be saved for future research.
Personal data will be kept as private as possible.
If future studies need new information, participants may be contacted.
Genetic testing called sequencing helps researchers look at DNA. Genes are made of DNA and
are the instructions for our bodies to function. We all have thousands of genes. DNA variants
are differences in genes between two people. We all have lots of variants. Most are harmless
and some cause differences like blue or brown eyes. A few variants can cause health problems.
Objective:
To understand the genetics of immune disorders.
Eligibility:
- People ages 0-99 who are have a disease under investigation by another NIAID study that
they are enrolled in
- Relatives of those people
Design:
Participants will give a sample by one of several means.
- Blood drawn by needle, or
- Saliva spit into a tube, or
- A couple of hairs plucked from the head, or
- A fingernail clipping.
Researchers will study the genes from the samples. They will tell participants if they find
results that relate to:
- The participant s (or family s) immune disorder
- Serious treatable diseases (like inherited cancer or heart disease)
- Some uncertain clinical results
Researchers will not routinely tell participants about results that relate to normal variants
or disorders that can t be treated.
The samples and data will be saved for future research.
Personal data will be kept as private as possible.
If future studies need new information, participants may be contacted.
Investigators at the National Institute of Allergy and Infectious Diseases (NIAID) use
next-generation sequencing technologies to help determine genetic contributions to immune
diseases. These efforts have increased rates of molecular diagnosis for a subset of NIAID
participants as well as uncovered fundamental insights into the cellular and signaling
pathways in host defense and immune regulation.
Despite these successes, analysis and interpretation of genomic data remain a substantial
challenge. Simply, researchers do not understand the functional and clinical consequences of
most human genetic variation. Making progress in this area requires a coordinated,
systematic, and transparent approach to clinical genomics research.
This protocol is specific to genetic testing and explicitly aims to both strengthen clinical
care and enhance research. Probands will provide biological specimens for genetic testing and
will be required to be enrolled on a primary protocol, which will execute the primary
clinical and research evaluations. This protocol serves as a vehicle for a programmatic
effort that includes standardized phenotyping, test ordering through the Clinical Research
Information System (CRIS), sample collection and isolation, nucleic acid analysis,
bioinformatics, clinical interpretation, reporting in CRIS, genetic counseling, and
supporting effective use of genomics as a research tool throughout the institute. Overall,
increased process standardization will support data integrity and efficiency while still
accommodating the need for investigator flexibility.
next-generation sequencing technologies to help determine genetic contributions to immune
diseases. These efforts have increased rates of molecular diagnosis for a subset of NIAID
participants as well as uncovered fundamental insights into the cellular and signaling
pathways in host defense and immune regulation.
Despite these successes, analysis and interpretation of genomic data remain a substantial
challenge. Simply, researchers do not understand the functional and clinical consequences of
most human genetic variation. Making progress in this area requires a coordinated,
systematic, and transparent approach to clinical genomics research.
This protocol is specific to genetic testing and explicitly aims to both strengthen clinical
care and enhance research. Probands will provide biological specimens for genetic testing and
will be required to be enrolled on a primary protocol, which will execute the primary
clinical and research evaluations. This protocol serves as a vehicle for a programmatic
effort that includes standardized phenotyping, test ordering through the Clinical Research
Information System (CRIS), sample collection and isolation, nucleic acid analysis,
bioinformatics, clinical interpretation, reporting in CRIS, genetic counseling, and
supporting effective use of genomics as a research tool throughout the institute. Overall,
increased process standardization will support data integrity and efficiency while still
accommodating the need for investigator flexibility.
- PARTICIPANT INCLUSION CRITERIA:
1. Must fulfill one of the following criteria:
1. Proband participants must have a disease under investigation by another
NIAID protocol on which they are enrolled.
2. Alternatively, participants may be the biological relative of a study
proband.
2. Aged 0-99 years. For participants unable to visit the CC or who are younger than
2 years of age, mail-in samples for genetic testing can be submitted.
3. Participants must be willing to undergo genetic testing.
4. Participants must be willing to allow samples to be stored for future research.
5. Participants must be willing to have their de-identified genomic data shared, for
example in a controlled access databases like the Database of Genotypes and
Phenotypes (dbGaP).
PARTICIPANT EXCLUSION CRITERIA:
Any condition that, in the opinion of the investigator, contraindicates participation in
this study is a reason for exclusion.
Co-enrollment guidelines:
Probands must be enrolled on another NIAID protocol as their primary protocol for carrying
out clinical and research evaluations. Relatives of probands may be enrolled in this
protocol whether or not the relatives are enrolled on another NIAID protocol. However, we
may prioritize enrolling relatives who are on other NIAID protocols and have undergone
careful phenotyping on those protocols. Careful phenotyping is important, even for
participants who are apparently healthy. Because the primary research team is best suited
to characterize their participants phenotypes, phenotyping of co-enrolled relatives will be
performed on the primary protocols.
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...
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