The NIAID Centralized Sequencing Program serves as a genomics resource for NIAID human subjects research studies. Launched in 2017, our program was developed to help address interrelated challenges in clinical care and DIR research including such issues as timely CLIA diagnostics, data standards, and siloed datasets. Any NIAID participant is eligible to receive genome sequencing and associated services through this protocol. We have partnered with dozens of NIAID investigators to enroll thousands of participants: this includes participants who are suspected to have a Mendelian disease, as well as cohorts with more complex disease etiologies. While technical aspects of our approach have evolved over time, we continually focus on providing high-quality, transparent, reliable genomic services with tailored clinical care and research partnerships. This model has proven to be successful, and we are pleased to be able to expand our program to now include other NIH institutes and Children’s National Health System, in addition to NIAID.
Main Areas of Focus
- CLIA genetic diagnostics for Mendelian disorders contributing to one’s clinical presentation, as well as medically actionable secondary findings.
- Genomic analysis to identify known and novel genetic defects associated with immune disease, including polygenic models of disease etiology and progression
- Contributing to the evidence base on the processes and outcomes of the clinical genomics and genetic counseling services.
- Protocol discussion and consent
- Standardized phenotyping
- Test ordering through the Clinical Research Information System (CRIS)
- Sample collection and DNA isolation
- Nucleic acid analysis, currently genome sequencing 95% at 20x
- Bioinformatic processing
- Clinical interpretation
- Orthogonal confirmation in a CLIA environment, typically Sanger sequencing
- CLIA-compliant reporting in CRIS
- Genetic counseling
- Clinical consultation
- Research data consultation
- Access to secure, searchable online data portal for genotypes and phenotypes
- dbGAP submission
- Genomic Research Integration System (GRIS)
- Clinical research partnering
- Non-clinical research partnering
- Data sharing
- Repository donation (dbGAP, TGAC)
If an investigator from outside our NIAID research program wishes to refer participants, we specify the terms of the agreement in writing.
We welcome collaborative partnerships and pursue on a case-by-case basis.
NIH research participants must fulfill one of the following criteria:
- Proband participants must have a disease under investigation by another NIH protocol on which they are enrolled.
- Alternatively, participants may be the biological relative of a study proband.
- In select cases at the NIH, healthy volunteers may be enrolled as targeted internal controls.
For access or partnership inquiries, contact firstname.lastname@example.org.
- SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation
- Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function
- PhenoTagger: A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology
- Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict
- The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources