February 3, 2003

The Health Center's Division of Human Genetics has a new home in the West Hartford office of UConn Health Partners.

Many programs of the division are now consolidated under one roof, says Dr. Robert Greenstein, the director. Previously, services were located on the Farmington campus and the Connecticut Children's Medical Center in Hartford.

"We are very heavily involved in bringing new genetics technology developments and research to the bedside, and providing up-to-date patient counseling," he says. "We work with patients, physicians and researchers throughout the UConn community, to promote understandin g of the genetic basis of diseases, and we strive toward the goal of remarkable care through research and education."

The division supports two board-certified residencies in medical genetics and participates in many outreach and public health initiatives, including community education efforts for medical groups and the lay public.

Programs of the Division of Human Genetics include:

• General Genetic Consultation Service: Geneticists and genetic counselors see patients and their families when birth defects or other inherited disorders occur, especially when reproductive planning and risk of recurrence are at issue.
  
  
• Hereditary Cancer Program: This is a consultation service that evaluates families and individuals concerned about hereditary cancers. Specially trained genetic counselors offer in-depth evaluations of families with multiple cancers, such as breast and ovarian cancer and uterine cancer. Screening tests and management options may be advised, based on an individual's cancer risk.
  
  
• Connecticut Pregnancy Exposure Information Service: For women who are pregnant or planning to become pregnant, the risk of exposure to dangerous substances via medications or chemicals in the workplace may be cause for concern. Anyone who is concerned about an exposure can call the Pregnancy Exposure Information Service for prompt attention. Callers are assigned to genetic counselors, who follow-up with information about the specific exposure. The risk-line is staffed five days a week and messages can be left after-hours. The phone number is 800.325.5391.
  
  
• Prenatal Genetic Counseling: Couples who are planning to start a family and are concerned about the risk of passing genetic conditions or birth defects on to their children, can undergo counseling and testing to determine whether a pregnancy may be affected with a birth defect or genetic condition. Board certified genetic counselors work closely with physicians trained in maternal fetal medicine to provide risk assessment, genetic evaluation and prenatal diagnosis, as well as individualized support for couples.
  
  
• Statewide Genetics Services Program: Working with the state Department of Public Health and Yale University Department of Genetics, the division provides genetics services in underserved areas in eastern Connecticut. The division also provides comprehensive metabolic treatment and management for children and adults identified through the state's newborn screening program.

The division is also linked to other medical programs, such as the Huntington's Disease Program and the Comprehensive Hemophilia Center, and has launched a new program, a Lysosomal Diseases Center, located in the Health Center's General Clinical Research Center. The program offers clinical protocols for the enzyme infusion of patients with Gaucher and Fabry diseases, as well as other similar disorders.

The Division of Human Genetics is now located at UConn Health Partners on 65 Kane Street in West Hartford. The phone number is 860.523.6499. For clinical appointments, call 860.523.6464.