NIAID Centralized Sequencing Protocol

  • End date
    Dec 31, 2029
  • participants needed
  • sponsor
    National Institute of Allergy and Infectious Diseases (NIAID)
Updated on 28 July 2021



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.


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.


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


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.


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. Overall, increased process standardization will support data integrity and efficiency while still accommodating the need for investigator flexibility.

Condition Disorder of immune system, Bronchiectasis, Autoimmune disease, Infection, Autoimmunity, Infection, Primary Immunodeficiency, Atopy, Primary Immunodeficiency Disorders, Atopic, Primary Immune Deficiencies, Autoinflammation, autoimmune diseases, autoimmune disorder, autoimmune disorders, atopic diathesis, Mental Illnesses
Clinical Study IdentifierNCT03206099
SponsorNational Institute of Allergy and Infectious Diseases (NIAID)
Last Modified on28 July 2021


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Inclusion Criteria

Aged 14-99 years
English language proficiency
Ability to provide informed consent

Exclusion Criteria

Have received positive genetic results from this protocol in the past
Any condition that, in the opinion of the investigator, contraindicates participation in this substudy
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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