Background and Objectives

NIAID (National Institute of Allergy and Infectious Diseases) operates a central genomic sequencing protocol to elucidate the genetic basis of immune disorders and a range of health conditions. Genomic sequencing reads DNA sequences with high precision to identify variants, enabling early disease risk assessment and supporting the development of personalized therapies.

Study Design and Population

The study commenced on July 31, 2017, and is currently enrolling participants aged 0 to 99 years who receive care at the NIH Clinical Center and the Children’s National Health System in the United States. Participants provide DNA derived from blood, saliva, or other tissues, and previously stored samples in NIH biorepositories may also be utilized. The research team will perform high‑resolution sequencing of the DNA to comprehensively characterize single‑nucleotide variants and structural alterations.

Data Utilization and Clinical Application

The collected genetic and clinical data will be continuously leveraged for future research, and the protocol is designed to allow re‑contact of participants when additional information is needed. Validated variants and risk genes can be confirmed in clinical laboratories and incorporated into patient management.

Expected Impact and Industry Implications

The project is expected to deepen understanding of immune disorders and enhance the efficiency of genetic counseling services. Building a large‑scale genomic database will provide a foundation for biotech companies to develop precision therapeutics and biomarkers, and will stimulate collaboration between public research infrastructure and private industry, accelerating innovation across the healthcare ecosystem.