Gene testing: what the health professional needs to know

Physicians and health professionals are faced with new challenges in the era of increasing information on genetics and health. The sequencing of the human genome has created more opportunities for genetic research and increased awareness of the role of genes in diseases. There is also an increased awareness of genetic susceptibility and gene testing. As a result of the advances in genetic research, the public demand for gene testing is on the rise. Patients are now seeking more information about inheritable diseases and predisposition to genetically related disease from doctors and other health professionals. Genetic tests are often conducted to confirm the diagnosis of a genetic disease as well as to assess genetic risk, predict response to drugs, and assist in reproductive decision making. Genetic tests are available for over 950 inherited diseases or conditions in the GeneTests data base for clinical or research purposes. A number of challenges face health professionals when using genetic tests for diagnosis, predictive testing, or reproductive decision making. These include the constant change in genetics knowledge and the increased demand to keep up with the various aspects of the genetic testing process. To meet these demands, physicians and other health professionals should use available educational genetic resources to provide adequate patient care.