Clinical Molecular Genetics
A clinical molecular geneticist is an individual with a U.S.-earned doctoral degree (MD, DO, PhD or the equivalent) who can correctly perform and interpret molecular analyses relevant to the diagnosis and management of human genetic diseases and who can act as a consultant regarding laboratory diagnosis of a broad range of molecular genetic disorders.
These requirements imply that the individual possesses:
- The ability to supervise and direct the operations of a clinical molecular genetics laboratory, including technical experience and knowledge in quality control and quality assurance procedures
- A broad knowledge of:
1. Basic molecular biology and genetics,
2. The application of recombinant DNA techniques and linkage analysis to the diagnosis of genetic diseases
3. The etiology, pathogenesis, clinical manifestations and management of human genetic disorders
- The ability to perform a variety of molecular diagnostic assays
- An understanding of the heterogeneity, variability and natural history of molecular genetic disorders
- Diagnostic and interpretive skills in a wide range of clinical molecular genetics problems
- The ability to communicate molecular diagnostic laboratory results in the role of a consultant to medical genetics professionals, to other clinicians and directly to patients concern with other professional staff
The UCLA Intercampus Medical Genetics Training Program in Clinical Molecular Genetics is intended for those who wish to direct or co-direct a clinical DNA diagnostic laboratory. It is open to both M.D. and Ph.D. trainees. Instruction and experience is provided in all aspects of diagnostic molecular biology. While the emphasis is on diagnosis of genetic disorders, trainees will also be exposed to applications in cancer and infectious disease diagnosis and individual identification by DNA fingerprinting. The experience will cover a wide range of molecular genetic techniques, results interpretation, case management, results reporting and counseling, and issues relevant to quality assurance and laboratory management. Full and satisfactory participation in the training program will provide board-eligibility to sit for the Clinical Molecular Genetics specialty examination of the American Board of Medical Genetics.
Participation, on a regular basis over the course of 1-2 years, will be required in clinical molecular genetics laboratory activities, including specimen handling, work-up of cases, molecular biologic procedures (DNA extraction, Southern blotting, polymerase chain reaction, dot blotting, etc.), results reporting, quality assurance procedures, record keeping, budgeting, proficiency testing, laboratory inspections and accreditation, interfacing with other clinical laboratories, and communication with referring physicians and genetic counselors. Time should be spent in both the UCLA and Cedars-Sinai Medical Center laboratories. (Some time-credit for the technical aspects only will be granted for those trainees already proficient in molecular biologic procedures through their own research activities.)