Clinical Biochemical Genetics
A clinical biochemical geneticist is an individual with a U.S. earned doctoral degree (MD, DO PhD, or the equivalent) who can correctly perform and interpret biochemical analyses relevant to the diagnosis and management of human genetic diseases, and who acts as a consultant regarding laboratory diagnosis of a broad range of biochemical genetic disorders.
These requirements imply that the individual possess:
- the ability to supervise and direct the operations of a clinical biochemical genetic diagnostic laboratory, including technical expertise and knowledge in quality control and quality assurance procedures;
- broad knowledge of
(1) bsic biochemitry and genetics,
(2) the application of biochemical techniques to the diagnosis and management of genetic diseases, and
(3) the etiology, pathogenesis, clicical manifestations, and management of human inherited biochemical disorders;
- an understanding of the heterogeneity, variability, and natural history of biochemical genetics disorders
- the ability to communicate biochemical laboratory results in the capacity of a consultant to medical genetics professionals, to other clinicians, and directly to patients in concert with professional staff.
The UCLA Intercampus Medical Genetics Training Program Clinical Biochemical Geneticist will be trained primarily for one of two roles: the physician caring for patients with these disorders; and, the clinical biochemist managing a laboratory for the diagnosis and monitoring of patients with this family of conditions. Instruction is provided to both types of individuals in all aspects of the discipline. This includes clinical presentation and diagnoses; laboratory diagnostic methods, interpretation and pitfalls; result reporting; and patient management and counseling. The PhD Clinical Chemist trainee will focus on laboratory procedures, operation, maintenance and trouble-shooting, evaluating new and alternative procedures. The Physician trainee will focus on patient care. Both groups of trainees will be taught that in a field known to few nonspecialists, each will have unusual responsibilities for interpretation of results.