Medical Genetics Doctor

Nature of the work

A medical geneticist is trained in diagnostic and therapeutic procedures for patients with genetically-linked diseases. This specialist uses modern cytogenic, radiologic, and biochemical testing to assist in specialized genetic counseling, implement needed therapeutic interventions, and provide prevention through prenatal diagnosis. The medical geneticist plans and coordinates large-scale screening programs for inborn errors of metabolism, hemoglobinopathies, chromosome abnormalities, and neural tube defects.¹

Medical geneticists can receive training in the following subspecialties:

medical biochemical genetics, which entails the diagnosis and medical management of individuals with inborn errors of metabolism.

molecular genetic pathology, which requires expertise in the principles, theory, and technologies of molecular biology and molecular genetics.

Training/residency information

Training in medical genetics is two or four years. The two-year program can only be completed after two years of a residency in another specialty area. The four-year program must include two years of pre-genetics education. One year of additional training is required for certification in the subspecialty areas.

References
1 The American Board of Medical Specialties. Guide to Physician Specialties. Evanston, IL: American Board of Medical Specialties; February 2008.