The clinical genetics and dysmorphology clinics are designed to train residents in the approach to evaluation, diagnosis, and management of individuals with a wide variety of birth defects, developmental, and genetic problems.
The clinics in reproductive genetics have several goals. On this service, the resident will learn to identify factors that place couples at increased reproductive risk through careful pedigree construction and pregnancy risk assessment. The resident learns how to present couples (or individuals) with options to manage the reproductive risk through genetic counseling, prenatal diagnostic testing, and/or assisted reproductive technology. Specific issues and tools that will be addressed include parental age related risk, serum screening, ultrasound screening, ethnic specific disease screening, and the evaluation of recurrent pregnancy loss. Resident will become fully cognizant of the benefits and limitations of each diagnostic methodology and will learn how to present the information to patients in a non-directive and culturally sensitive way.
The clinics in cancer genetics are designed to familiarize the resident with the basics of cancer risk assessment. Residents are expected to become familiar with the typical presentations of common cancer syndromes. On this rotation residents learn how take a family history with respect to cancer, how to evaluate medical records, how to assess risk, how to use appropriate diagnostic testing, and how to present this information to families. In Addition, residents may take part in the Cancer Predisposition Clinic which is staffed by genetic counselor Diane Masser-Frye and oncologist Dennis Kuo to address the needs of children with a genetic predisposition to cancer or other neoplasms. They provide education, evaluation, and management to children and their families who are affected by conditions such as Li-Fraumeni, Von Hippel-Lindau, Familial Adenomatous Polyposis, or Constitutional Mismatch Repair Deficiency. Residents become familiar with the complexity of counseling issues regarding presymptomatic testing including those relating to insurance.
The rotation in cytogenetics is designed to provide the resident with a basic appreciation for the techniques involved in diagnostic testing, the limitations of various approaches, the potential for error in any given test, and skills in test interpretation. Residents will perform a chromosome analysis and assist with various other cytogenetic testing procedures. The hands-on experience provides insights into the technology of chromosomal banding techniques, fluorescence in-situ hybridization, and array comparative genomic hybridization. Residents will sign-out cases with the laboratory directors in order to learn test interpretation and necessary follow up. Residents are expected to learn an approach to identifying the origin of unknown chromosomal material, the most efficient testing strategy for specific conditions, and the clinical significance of positive and negative results.
The rotation in molecular genetics is designed to provide the resident with a basic appreciation for the techniques involved in diagnostic testing, the limitations of various approaches, the potential for error in any given test, and skills in test interpretation. Residents will assist with various molecular genetic testing procedures, such as polymerase chain reaction, dot-blot technology, southern and western blotting, and DNA sequencing techniques. Residents will sign-out cases with the laboratory directors in order to learn test interpretation and necessary follow up. Residents are expected to learn the most efficient testing strategy for specific conditions, and the clinical significance of positive and negative results.
The rotation in biochemical genetics is designed to immerse residents in the problems of inborn errors of metabolism in a wide variety of clinical settings. Residents participate in weekly clinics where new and established patients are seen for diagnosis and management decisions. Residents learn to take a history with attention to signs and symptoms of metabolic disease, to obtain a three-generation pedigree, to examine patients with attention to physical findings of relevance to the presenting complaint, to order and interpret laboratory tests with an emphasis on inborn errors of metabolism and mitochondrial abnormalities. Through participation in the weekly conferences, the residents learn how to work with specially trained dietitians and nurses on management issues.
Under the direct supervision of UCSD faculty, residents consult on acutely ill newborns in a variety of facilities in San Diego. The emphasis is on rapid diagnosis, stabilization, and management. Newborns identified through the State of California Newborn Screening Program are seen in the Biochemical Genetics Clinics. The biochemical genetics laboratory experience is part of this rotation. The resident and the laboratory director confer to review and discuss laboratory results daily. The purpose is to understand test interpretation, what steps might be taken to clarify an ambiguous result, and how the laboratory contributes to disease management.