PED 7060 (2025/2026)

This screen displays information for a course in a given course year. From this screen, you can see how many sections are available for the selected year.

View Details

State: PUBLISHED

Course: PED 7060 - Genetics & Metabolics Clinical Rotation

Description: Medical Genetics involves any application of genetics to medical practice. It includes the studies of the inheritance of diseases in families, analyses of the molecular mechanisms through which genes cause disease, and the diagnosis and treatment of genetic disease. Medical genetics also includes genetic counseling, in which information regarding risks, prognoses, and treatments is communicated to patients, their families, and their primary care providers. As a result of seeing new and established patients in our Pediatric Medical Genetics Clinics, the medical student will develop an approach to establishing diagnoses in those families with a syndrome, both clinically and at the molecular level. The medical student will understand the basics of genetic counseling and provision of anticipatory guidance and management of common genetic conditions. The medical student will appreciate the collaboration required between the primary care provider and pediatric medical genetics subspecialist in providing optimal care to families with genetic disorders.

Course Goals

Learning Objectives (see as many patients as possible in time available):
•Understand basic genetic principles
•Obtain pedigree information from consultand
•Interpret inheritance patterns from pedigree information
•Identify key components of a genetics evaluation
•Distinguish autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant, mitochondrial, and multifactorial inheritance patterns
•Determine distinction between inborn errors of metabolism and syndromal etiologies of developmental delay
•Demonstrate understanding of indications for genomic testing
•Demonstrate understanding of indications for biochemical testing
•Interpret test results and understand implication of informing interview
•Demonstrate proficiency in accessing the genome browser
•Demonstrate ability to utilize databases to identify Mendelian disorders from cytogenomic SNP microarray results with genomic imbalances and/or segments of homozygosity
•Recognize value of collaboration between primary care providers, medical geneticists, genetic counselors, nurse practitioners, and dieticians in providing care to families with genetic conditions
•Navigate ethical issues related to genetic issues
Learning guide to the 6 competencies for genetics trainees as outlined by the American Board of Medical Genetics and Genomics (ABMGG) http://abmgg.org/pages/program_learning.shtml