Medical geneticists are research and diagnostic minded physicians who practice predictive and preventive medicine - these specialists study the genetic material to make diagnoses and perform research.

Watch an Overview of Medical Genetics

About Medical Genetics

Medical geneticists, also called genetics specialists, use their training in medicine, genetic theory and human biology to research and diagnose patients suffering from a variety of congenital disorders and hereditary diseases or conditions, including various types of cancer. Medical geneticists play an essential role in the provision of early intervention and highly precise treatment plans for patients. As medical doctors, geneticists play a vital role in the area of predictive and preventive medicine, helping to diagnose diseases or disorders as early as possible by studying family history and performing genetic screenings.

Medical genetic specialists are often called upon to confirm diagnoses or treatment plans for patients, ensuring that they are receiving the most appropriate medical care. Medical geneticists may perform a variety of genetic screenings for patients of all ages and situations, such as prenatal tests and screenings to identify genetic disorders as early as possible during pregnancy. Many women are also screened before getting pregnant to better prepare for pregnancy by identifying any potential risks, thereby increasing the chances of a healthy pregnancy by knowing vital information ahead of time and allowing for a proper treatment plan. Screenings are also performed on children and adults when referred by other physicians, as genetic specialists have the training and knowledge to diagnose and identify genetic conditions when other physicians cannot.

Aside from diagnosing patients, medical geneticists also take part in research and studies on those with congenital disorders. This allows the medical community and other physicians to better understand and study the effects of certain treatment plans on certain disorders. Geneticists are a vital part of the medical community, helping to prevent, diagnose, and create treatment and disease management plans for patients suffering from all types of hereditary and congenital diseases and disorders.

Medical Genetics Education & Training

Medical geneticists are fully trained and licensed physicians, having graduated from medical school and completed an internship and residency training. A typical genetics residency lasts approximately three years. During the residency, the physician will be trained to diagnose, treat, manage and counsel patients suffering from all types of genetic and congenital disorders. Genetic residents gain valuable experience and knowledge in molecular and clinical genetics, cytogenetics, metabolic disorders and other conditions and diseases. The physicians are exposed to a wide variety of genetic conditions ranging from the very rare to the more “common.”

Additionally, medical geneticists who wish to specialize in a certain area of genetics may pursue a fellowship. A fellowship provides the physician with the opportunity to spend an additional two years focusing on areas such as molecular genetics, cytogenetics, metabolic genetics or biochemical genetics, among others. Fellowships allow the geneticist to conduct research and gain extremely valuable clinical experience.

This clinical experience allows the physician to increase their knowledge of diagnostics and treatment techniques, cultivating the highest standard of preventative medicine and care. Many medical geneticists seek board certification from the American Board of Medical Genetics (ABMG), as well as pursuing continuing medical education credentials.