Clinical Genetics

Sites: CHMC
Director(s): Katherine O'Donnell, Farrah Rajabi
Prerequisites: HMS Principal Clinical Experience (Core Clinical Clerkships) or equivalent
Offered: Full time for one month.
Location: CHMC - Children's Hosp Medical Center (7)
Open to Exclerks: Yes (may be restricted for international students)
Description: This course will introduce students to the application of basic genetic principles to clinical genetics problems. Students will attend Genetic Rounds and clinics and participate, under supervision, in the consultation/management of families with genetic problems. Students will attend outpatient clinics, under the direct supervision of the genetics fellows (either first or second year fellow) and attendings according to a set schedule. They also will participate in in-patient consultations, also under the direct supervision of the 1st year genetics fellow and attending. Students will also be exposed to various cytogenetic, biochemical and molecular diagnostic methodologies, including those employed in prenatal diagnosis. They will deal with disorders such as inborn errors of metabolism, congenital malformations, chromosomal abnormalities and other genetic diseases. They will also attend lectures and seminars of the genetics group and general hospital rounds. They will also be expected to give a brief presentation about one of the cases they have seen with a discussion of the disorder. There is no night call.
Incorporation of Basic Science Content and Evidence-Based Medicine:
They will learn how to evaluate and use current medical information, basic science concepts and evidence-based medicine for patients with genetic and/or metabolic disorders. They will become familiar with resources available to assist in patient evaluation, formation of differential diagnoses and in the understanding of the underlying pathophysiology of the conditions. These resources will include the genetic and metabolic textbooks, dysmorphology and computer programs and PubMed. They will attend weekly genetics lecture series, which incorporates basic underlying genetic scientific principles and the genetics and metabolic clinical conferences, which include a research series. During the powerpoint presentation the student will be expected to provide the underlying basic scientific concepts for the disorder they are presenting.
Grade Criteria:
Honors with Distinction: Every faculty member thought that the student was outstanding, rated as in the top 1%. The student's assessment of patients and presentations were of the highest quality. The student went beyond the suggested reading and was able to offer suggestions and interpretations based on their reading. Honors: Every faculty member thought that the student was excellent, rated as in the top 10% of students. The student did the suggested reading and beyond, was able to interpret the readings thoughtfully and able to offer suggestions. Satisfactory: The student did what was expected, did an adequate job of evaluating and presenting patients, making a differential diagnosis and in the oral presentation. The student did the suggested reading and was able to comment on it. Unsatisfactory: The student did not attend the clinics and inpatient service regularly, did not attend all of the lectures and was not able to provide an adequate differential diagnosis. The student did not read the suggested readings.