Official Title
NIAID Centralized Sequencing Protocol
Brief Title
NIAID Centralized Sequencing Protocol
Protocol ID
NCT03206099
Lead Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
Brief Summary
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 various health conditions, as well as
outcomes of clinical genomics and genetic counseling services performed under this
protocol.
Eligibility:
Participants in other NIH human subjects research protocols - either at the NIH Clinical
Center (CC) or at Children s National Health System (CNHS) - (aged 0-99 years), and, in
select cases, their biological relatives
Design:
Researchers will study participant s DNA extracted from blood, saliva, or another tissue
sample, including previously collected samples we may have stored at the NIH. Researchers
will look at participant s DNA in great detail. We are looking for differences in the DNA
sequence or structure between participants and other people.
Participants will receive results that:
- Are important to their health
- Have been confirmed in a clinical lab
- Suggest that they could be at risk for serious disease that may affect your current
or future medical management.
Some genetic information we return to participants may be of uncertain importance.
If genetic test results are unrelated to the participant s NIH evaluations, then we will
not typically report:
- Normal variants
- Information about progressive, fatal conditions that have no effective treatment
- Carrier status (conditions you don t have but could pass on)
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.
Detailed Description
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. This is true at NIAID and across the intramural research
program. 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 throughout participating programs at the NIH. 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
intramural program. Genetic testing results and data (upon request) will be shared with
the research teams for protocols on which a given participant is co-enrolled. Overall,
increased process standardization will support data integrity and efficiency while still
accommodating the need for investigator flexibility.
Study Period
-
Enrollment Count
20,000 participants
Eligibility Criteria
- PARTICIPANT INCLUSION CRITERIA:
- Must fulfill one of the following criteria:
- Proband participants: must be individuals under investigation by another NIH
protocol on which they are co-enrolled, or are referred from the GDMCC protocol
"Defining the Genetic Etiology of Suppurative Lung Disease in Children and
Adults" (NCT04702243). Probands may have a disease under investigation or be
healthy volunteers
- Biological relatives: biologically related to a proband participant.
- Aged 0-99 years.
- Participants must be willing to undergo genetic testing.
- Participants must be willing to allow samples to be stored for future research.
- 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).
- To complete surveys and interviews:
- Proficient with the English language.
- Able to provide informed consent.
- Adult healthy volunteers must be able to provide informed consent.
PARTICIPANT EXCLUSION CRITERIA:
Any condition that, in the opinion of the investigator, contraindicates participation in
this study is a reason for exclusion.
Filters
Atopy
Primary Immunodeficiency
Autoimmunity
Autoinflammation
RECRUITING
CHILD
ADULT
OLDER_ADULT