The National Human Genome Research Institute began as the National Center for Human Genome Research (NCHGR), which was established in 1989 to carry out the role of the National Institutes of Health (NIH) in the International Human Genome Project (HGP), begun in 1990. In 1997 the United States Department of Health and Human Services renamed NCHGR the National Human Genome Research Institute (NHGRI), officially elevating it to the status of research institute - one of 27 institutes and centers that make up the NIH.

NHGRI now funds a wide range of research on the genome's structure, function, and role in health and disease, as well as investing in studies on the ethical, legal and social implications (ELSI) of genome research. It develops the resources and technologies needed to accelerate genome research, trains the next generation of genomic investigators, and disseminates genome information to the public and to health professionals. Education and training are thus important components of its remit and its website hosts a rich library of resources.