PREREQUISITES AND PLACEMENT IN THE CURRICULUM: Must have completed core clerkships in Pediatrics and Obstetrics/Gynecology.
PURPOSE: The objective of this program is to familiarize the student with the evaluation, diagnosis and treatment of complex genetic and metabolic problems both on the wards and in the laboratory. Depending on the student’s degree of interest, the student may engage in various aspects of laboratory investigation, learning techniques and means of approaching a problem and re-evaluating results. She/he may tackle a research problem or learn and perform various screening and diagnostic tests.
Competency 1: Patient Care (PC). Student will be expected to provide patient care in a compassionate, appropriate, and effective manner for the promotion of health, prevention of illness, treatment of disease, and at the end of life. Students will:
- Demonstrate the ability to gather a three-generation family history for genetic disorders and identify risks when present. By the end of the rotation, the student will demonstrate proficiency in drawing a pedigree.
- Demonstrate physical examination skills that are appropriate for patients across all age ranges, emphasizing the identification and description of major and minor anomalies.
- Develop an assessment and diagnostic/management plan for the patient based on personal and family history and physical exam findings.
Competency 2: Medical Knowledge (MK). By the end of the rotation, students will:
- Demonstrate knowledge of key concepts regarding genome structure, molecular and cytogenetics techniques, and common patterns of Mendelian and non-Mendelian inheritance.
- Demonstrate knowledge of common methods for genetic diagnosis such as chromosome analysis, microarray CGH analysis, single gene analysis, and carrier screening. Students should understand applications and limitations of these techniques.
- Demonstrate knowledge about the etiology of major and minor malformations: chromosomal, single gene, teratogen exposure, maternal factors, and multifactorial.
- Describe the indications for genetic testing for genetic or metabolic disorders in the primary care setting.
- Demonstrate knowledge of key concepts related to testing for carrier state (i.e. how race/ethnicity and carrier frequency play a role in carrier screening) and for adult onset disorders such as cancer, hemochromatosis, Huntington disease.
- Describe the settings and reasons in which prompt diagnosis of certain chromosome abnormalities is necessary (Trisomy 13 and 18).
- Discuss evaluation and management of individuals with a positive newborn screen.
- Describe the diagnosis and management of the more common genetic disorders such as Down Syndrome, Turner Syndrome, Klinefelter Syndrome, Neurofibromatosis Type I, Noon Syndrome, Fragile X Syndrome, Marfan Syndrome, Osteogenesis Imperfecta, etc.
Competency 3: Practice-based learning and improvement (PBL). Students will be expected to develop skills and habits to be able to meet the following goals:
- Identify strengths, deficiencies and limits in one’s genetics knowledge and expertise
- Set learning and improvement goals by means of self-directed learning, readings from the genetics reading file, and completion of the weekly genetics problem set
- Identify and perform appropriate learning activities as outlined above
- Systematically analyze practice using quality improvement methods, and implement changes with the goal of practice improvement
- Incorporate formative evaluation feedback into daily practice
Competency 4: Interpersonal and communication skills (CS). Students will be expected to demonstrate interpersonal and communication skills that result in the effective exchange of information and collaboration with patients, their families, and health professionals. By the end of the rotation, students will be expected to:
- Communicate effectively with patients, families, and the public, as appropriate, across a broad range of socioeconomic and cultural backgrounds
- Demonstrate empathetic and supportive behavior to patients and families when delivering or discussing difficult news
- Demonstrate the ability to provide genetic counseling and education to patients and families in an approachable and easily-understandable manner
- Understand the appropriate use of interpreting services
- Communicate effectively as a member or leader of a health care team or other professional group
- Act in a consultative role to other health professionals
- Maintain comprehensive, timely, and legible medical record from clinic and consultations
INSTRUCTIONAL FEATURES: Inpatient consultations on genetic and metabolic problems are first seen by the student and then evaluated by the attending and are used as teaching cases. Clinic is held every day of the week, and specialized clinics are held once a month. The student will have a unique opportunity to be exposed to the work-up, counseling, and management of inborn errors of metabolism, birth defects, multiple congenital anomalies, and genetic predisposition based on a personal or a family history. The student will take part in genetic counseling sessions. A set of genetics problems will be used as a teaching tool along with a reading file that will be provided at the beginning of the rotation and will be discussed during the rotation.
Pediatrics E&M Conference (E&M = evaluation and management): This is an educational enhancement specifically designed for the M4 student in Pediatrics – a case-based learning session designed to focus on issues that you likely will face as residents. All students on pediatrics electives will gather at 8am every Thursday of their rotation in 1208 CSB (12th floor conference room).
ASSESSMENT: Informal verbal feedback provided at the end of every week. Formal midterm and final feedback from Dr. Bhat. Student evaluation based on faculty/student interaction and observation during clinical activities.
Important information for domestic and Canadian medical students: Completed applications with all required documents must be received 4 weeks prior to the start of the elective. Please plan accordingly to allow your school the necessary processing time for gathering the required documents.
To inquire about scheduling this elective, please contact Gauri Nagaraj, Student Programs Coordinator at firstname.lastname@example.org
Program Number: ELEC 650
Location: UI Health
Program Director: Gifty Bhat, MD
Coordinator: Andie Jones
Duration: 4 Weeks
Night Call: No
Students Accepted: Min. 1 Max. 1
Housestaff Used as Faculty: No
Lectures/Conferences/Faculty Contact: 7-8 hrs/wk
Laboratory/Independent Study: 4hrs/wk
Outpatient: 24 hrs/wk
Inpatient: 4-5 hrs/wk
Total Hours /Week: 40
Gauri Nagaraj will contact you the week before your elective with reporting instructions.