Specialty Description
Clinical biochemical genetics is a laboratory-based discipline that focuses on the screening, diagnosis, evaluation, and management of patients with inborn errors of metabolism and their families. Clinical biochemical genetics programs provide post-doctoral education in the skills and knowledge necessary to perform and interpret biochemical analyses relevant to the diagnosis and management of human genetic diseases. Upon successful completion of such a program, clinical biochemical geneticists have the skills and knowledge to function as technical supervisors of clinical laboratories and 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 (1).