The Division of Human Genetics provides diagnostic and management services for over 1,500 patients per year including general genetics, prenatal/perinatal genetics, public health/outreach, neurogenetics, and the Pregnancy Exposure Risk Line. The Human Genetics Laboratories offer a full range of cytogenetic and molecular techniques, including cancer genetics, and prenatal testing for birth defects (Triple Test Program) for northern Connecticut. The division offers a Human Genetics fellowship training program (human genetics fellowship) and is a training site for genetic counselors, as well as offering elective clinical rotations for pediatric and obstetrical residents, maternal-fetal medicine fellows, and medical students.

The research themes of the division include the evaluation of DNA carrier screening for cystic fibrosis, improving the utilization of prenatal genetics, and the study of cancer using molecular genetics techniques. There is also the opportunity for collaborative research with established laboratory investigators in molecular biology. Genetics faculty work closely with residents on inpatient and out patient services throughout the program, and during longitudinal and block electives.