The genetic counseling research unit within the Medical Genetics Branch focuses on investigations into the psychological aspects of genetic conditions, ethical aspects, and the effectiveness of counseling strategies. The ultimate goal is to provide research-based methods and tools for effective, client centered, ethically responsible genetic counseling to individuals and families facing the risk of a genetic condition or the option of genetic testing. The increasing availability of genetic technologies capable of identifying the presence of gene mutations that predispose individuals to increased risk for genetic conditions has heightened the need for original research in genetic counseling. The issues presented to individuals and families by the application of these technologies present enormous challenges to their psychological well being, integrity, self-perception, relationships, thoughts regarding child bearing, education, employability, and insurability.

Research efforts have initially focused on cancer gene testing, psychosocial aspects of Marfan syndrome, interest in prenatal diagnosis among individuals affected with achondroplasia and qualitative interviews within families.

A genetic counseling training program has been established in collaboration with The School of Hygiene and Public Health at Johns Hopkins University. This graduate program takes advantage of the wealth of clinically based genetics programs throughout the Washington, D.C.-Baltimore area. Considerable emphasis is placed on psychological aspects of genetic disorders and research in genetic counseling.