Clinical Biochemical Genetics is a laboratory-based specialty of medical genetics that involves the diagnosis, evaluation, and management of patients and their families with inborn errors of metabolism, including conditions involving disturbances in the metabolism of amino acids, organic acids, carbohydrates, lipids, and other metabolic compounds. Clinical biochemical genetics fellowship programs provide training in the skills and knowledge necessary to perform and interpret biochemical analyses relevant to the diagnosis and management of human genetic diseases. Clinical Biochemical Genetics is recognized as a primary specialty by the American Board of Medical Specialties (ABMS) [www.abms.org]. Laboratory postdoctoral fellowship training programs in this specialty are accredited by the American Board of Medical Genetics and require a minimum of 24 months of training, with a significant amount of clinical interaction as related to human genetic abnormalities. Trainees entering this specialty must hold either an M.D. or Ph.D. (or their equivalent); the Ph.D. degree must either be in genetics or a related field within the biological sciences. Individuals with a M.D. or Ph.D. earned outside of the United States or Canada must have their degree reviewed by the ABMG Credentials Committee prior to entering a training program. Upon successful completion of training, clinical biochemical geneticists have the skills and knowledge to function as technical supervisors of clinical laboratories as well as clinical consultants in the diagnosis and treatment of patients with these types of disorders and may, in many jurisdictions, be deemed qualified to direct specialty laboratories.
