The NIAID Centralized Sequencing Program works with researchers at NIAID and partners across the NIH, as well as the Children’s National Health System to provide clinical research genomic services at the NIH Clinical Center. The goal of the program is to raise the standard of clinical practice and to facilitate research by integrating genomics into patient care.
Since launching in 2017, the Centralized Sequencing Program has partnered with dozens of NIH investigators to provide genomic information to nearly 10,000 participants. This includes participants suspected to have a Mendelian disease—such as primary immunodeficiencies, cystic fibrosis, Marfan syndrome and more—and participants with more complex disease etiologies.
The program currently provides genomic testing and genetic counseling services for over 1,500 participants each year. Hundreds of patients have received genetic diagnoses because of these services, including many potentially life-saving findings.
Core Pillars of Our Program
Genetic Diagnosis
Identifying a genetic diagnosis, which can lead to changes in patient care and improved outcomes.
Research and Discovery
Impactful research findings spurred by collaboration and data sharing.
Training
Hundreds of hours educating investigators and trainees.
Learn More and Get Involved
“With the dataset our collaboration is building we are poised to test the limits of genomic information for prediction of outcome variation gene dosage disorders...The fact that we’re already generating abstracts & papers outlines is wonderful & I’m excited by all the science to come...We’ve learned so much by working with you, & your generosity in sharing knowledge & expertise has substantially increased the ability of my team to think about & work with genetic data in a clinical context. I know this goal is an important part of your mission—so I’m pleased to report that its working!”
-NIHM Investigator, Armin Raznahan, M.D., Ph.D.