Although research on the genetic basis of human development, physiology and disorders and care of persons with hereditary diseases has long been part of the history of UCSF, the first formal entity devoted to human genetics was the Division of Medical Genetics, which was established in 1967 in the Department of Pediatrics. The Division of Medical Genetics evolved into a comprehensive and highly integrated service, training, and research program in all aspects of medical genetics that was based in the Departments of Pediatrics and Obstetrics, Gynecology and Reproductive Sciences and became responsible for virtually all clinical activities in genetics. The members of this group played a major role in the development of many areas of medical genetics, including prenatal diagnosis, genetic counseling, and the treatment of genetic disorders.  In addition to these formal activities in medical genetics per se, a number of strong research and clinical groups interested in a wide variety of genetic disorders ranging from arthritis, asthma, and heart disease to multiple sclerosis, dementia, skin diseases, and cancer were gradually established throughout many of the clinical departments of the School of Medicine.

DNA and the Era of Molecular Genetics

A few years after the establishment of clinical genetics at UCSF, the seminal contributions of UCSF scientists led to the birth of recombinant DNA technology and ushered in the era of molecular genetics. The strength of UCSF in this area grew rapidly, and UCSF became a world leader in molecular genetics, which it remains to this day. With the passage of time, many outstanding programs were developed in microbial (including bacterial, viral, and yeast) genetics and various areas of model organism genetics, the latter encompassing organisms as diverse as Drosophila, nematodes (C. elegans), zebra fish, and mouse. The Howard Hughes Medical Institute at UCSF also supported research in both human genetics and the genetics of other organisms, and a program in cancer genetics was organized within the Cancer Research Institute.  In concert with these developments, a Division of Genetics in the Department of Biochemistry and Biophysics was established, as was a Graduate Group in Genetics that offered a PhD degree in genetics within the Tetrad Program of the Program in Biological Sciences. More recently, a second training program in Genetics and Genomics was established within the Biomedical Sciences Graduate Program, which has emphasis on disease-related research.

The Program in Human Genetics

In the mid 1990s, interest began to increase throughout UCSF in the expansion of activities in the area of human genetics, and in 1997 the School of Medicine established the Program in Human Genetics. This program encompassed investigators in several schools, departments, organized research units, and affiliated research institutes and served as the principal focus for interest in human genetics. It participated in the recruitment of several new faculty members with interests relevant to human genetics and founded the Genome Core Facility to provide sequencing and genotyping services to the extended campus community. In addition, in anticipation of further growth in human genetics, it participated in the planning of space for human genetics at Mission Bay on the fifth floor of the building that was to become Rock Hall and the recipient of the donation of a Distinguished Chair in Human Genetics to UCSF by the Lamond Family Foundation.

In 2001, at the suggestion of Dean Haile Debas, an external review of the Program in Human Genetics was conducted, and it was recommended that the Program be converted to an Institute of Human Genetics with substantial additional space resources and a significant number of new positions. The School of Medicine embraced this recommendation, the required positions were generated, and contiguous space on the ninth floor of Health Sciences East and West and the Medical Sciences Building was assigned in addition to the space in Rock Hall at Mission Bay.

On January 1, 2005, Neil Risch became the Lamond Family Foundation Distinguished Professor in Human Genetics and the Director of the Institute.