Clinical Human Medical Genetics

Course Number: 
Course Type: 
Currently Offered: 
Instructor (MCB Faculty): 
Byers, Peter H.
Instructor (non-MCB Faculty): 
Murray, Mitzi L
Course Description: 

Medical Genetics, Genetics and Genome Sciences are areas of clinical and basic science strength and distinction at the University of Washington. In addition, Medical Genetics is already home to Ph.D. level training in a clinical environment, in Clinical Molecular Genetics or in Clinical Cytogenetics. The Clinical Rotation in Human Medical Genetics will therefore provide first-hand experience of the dynamic intersection between basic science and medicine. Students will be able immediately see the importance of the deep understanding of basic genetics in a clinical context. This quarter-long rotation will give students the opportunity to participate in one half-day clinic per week, for 10 weeks, in clinics covering Pediatric Genetics, Biochemical Genetics and Adult Genetics. Students will receive clinical information and a reading list about each patient or family to be seen, a week prior to the visit. Students, with permission from the family, will participate in clinical evaluation and assessment, and in the counseling of families each week and in both pre-visit preparation with the mentor and post-visit discussion with the mentor and clinical staff. The rotation will be completed with the creation of a student clinical portfolio of 5 families, patients or disorders that summarizes the events of each visit; the current state of molecular knowledge of the disease process in each patient, family or disorder; and the implications of genetic knowledge for current and future generations. We have found that graduate students and post-doctoral fellows who have clinical involvement — who meet individuals affected with the disease they study in the laboratory, or work with physicians to appropriately identify and treat specific diseases, in individual patients — see immediately the importance and relevance of their basic science training, and develop a sophisticated, first-hand appreciation of the needs and challenges of clinical and translational research. This sort of experience invariably leads to a deeper dedication to science that has medical relevance, and for a passion in many trainees to pursue careers that meld clinical and basic science. The Clinical Rotation in Human Medical Genetics will provide this type of experience for those trainees in the Molecular Medicine Certificate Program who are interested in first-hand clinical contact. The mentor for this rotation, Dr. Peter Byers of the University of Washington Departments of Pathology, Medicine and Genome Sciences, is an internationally-recognized clinician-scientist with expertise in the diagnosis and treatment of heritable disorders of collagen biosynthesis.

Learning Objectives: 
The educational objectives are:
  • To understand the process by which individuals with or at risk for genetic disorders are assessed on clinical grounds
  • To understand the role of genetic testing in clinical evaluation
  • To learn how to interpret genetic testing and the meaning of mutations and variants of uncertain significance
  • To understand the integration of basic research, clinical research and clinical investigation
  • To assess and critique medical genetic literature
  • To understand the role of research in augmenting clinical care of individuals
Instructor’s permission required. Additional information on course web site.

Course web site:

Areas of Interest: 
Genetics, Genomics & Evolution
Elective Area: 
Genetics, Genomics & Evolution