Residents develop skills through a sequential educational program:
- Year one: During the first year of the program, the resident begins developing the skills and knowledge necessary for the critical analysis of clinical problems and the ability to make appropriate decisions. The resident attends a variety of medical genetics clinics, including General Genetics, Neurometabolic, Craniofacial, Ras/MAPK Pathway and Autism clinics, and rotates on the inpatient service at UCSF Benioff Children's Hospital. He/she is expected to become familiar with the medical genetics literature and other sources of pertinent information, to attain a knowledge of the methods and applications of genetic laboratory tests, and to begin to acquire the skills of interviewing and counseling patients. The resident is also expected to make contact with a laboratory or clinical research mentor and to begin to formulate a research project.
- Year two: During the second year of the program, the resident greatly broadens his/her ability to diagnose, manage, and counsel for a broad range of genetic disorders, including inherited metabolic diseases. In addition, the resident becomes familiar with prenatal and presymptomatic diagnosis and carries out a meaningful research project. Six months is allocated to research during the second year. There are a variety of research opportunities for clinical, translational and basic research in the medical genetics divisions of the departments of Pediatrics and Medicine, as well as in the Institute for Human Genetics (see Research Program). In many cases, it is appropriate that residents will continue for a third year of training in medical genetics, with heavy emphasis on research.
Laboratory rotations are incorporated in the schedule during the first and second years of residency. During the laboratory rotations the residents are expected to perform the following tasks:
- Cytogenetics: Residents carry out all steps from a blood sample to the karyotype; they prepare culture medium, set up cultures, carry out harvesting and slide preparation as well as subsequent banding and staining of chromosomes using the commonly employed methods (F-banding, Q-banding, C-banding). Residents practice karyotyping using normal and abnormal metaphase spreads. Residents learn to use ISCN nomenclature to describe normal and abnormal karyotypes. Residents apply in situ hybridization kits for FISH on metaphase and interphase cells, including individual FISH probes and subtelomeric probe analysis. Residents also learn about advanced methods (e.g. CGH). Residents participate in regular sign-out sessions of the laboratory where karyotype and molecular cytogenetics results are interpreted.
- Molecular Genetics: Residents learn the basis of procedures (Southern blot, reverse dot-blot, PCR, RT-PCR, automated microsatellite analysis and DNA sequencing) that are used for molecular diagnostics. Residents learn about the different types of tests as they are applied to specific disorders. At the end of the rotation, residents should be able to interpret and communicate primary laboratory results.
- Biochemical Genetics: Residents learn to carry out the routine methods available for biochemical screening tests. Residents learn the principles that underlie the more complex analytical procedures such as amino acid and organic acid analyses. Residents learn to interpret drug intake histories for interpretation of such results.