PEDU-4107 - Clinical Genetics Elective (year 3)

PEDU-4107 - Clinical Genetics Elective (year 3)

Elective Title: Clinical Genetics Elective (year 3)
Course Number: PEDU-4107
Elective Type: clinical Duration/Weeks: 2 Max Enrollment: 1
Prerequisites: Successful completion of Year 2
Additional Requirements: C-form required, send form to Tiffany Swain ( ) or Kelli Knox (
Responsible Faculty Director: Joseph Ray, MD Periods Offered: 1AB, 2B, 3AB-10AB, 11B, 12AB-13AB including holiday period 8 
Coordinator: Tiffany Swain Other Faculty: Other Faculty (List All): Erin Cooney, MD; Megan Morand, CGC; Swetha Narayanan, CGC, Jenny Do, MS, CGC
Location to Report on First Day:
Contact Kelli Knox ( for information on where to meet on first day

1. Provide exposure to the practice of clinical genetics including diagnosis, treatment, and multidisciplinary involvement.
2. Teach the student how to approach complex multi organ system diseases
3. Teach the student how take a thorough family history and create a pedigree
4. Provide instruction and refinement on comprehensive note writing

1. Demonstrate knowledge of basic pathophysiology of several genetic conditions
2. Differentiate acquired diseases from constitutional (genetic) diseases.
3. Learn the practice guidelines related to genetics
4. Obtain thorough and detailed history including family history and provide accurate correlation with physical examination and/or laboratory data.
5. Provide useful differential diagnosis; plan ancillary studies as necessary.
6. Identify physical findings; correlate physical findings and/or laboratory data with diagnosis; identify modes of effective management and treatment options.
7. Identify resources within the institution for better patient care and resource management.
8. Demonstrate understanding of when genetic counseling is advisable.
9. Present in clear and concise manner the genetic aspects of a case to faculty and staff
10. Write detailed and comprehensive clinic notes and counseling letters.
11. Appropriately accept and incorporate feedback from faculty and staff for improvement.
12. Demonstrate competency at finding and using pattern identification resources.
13. Provide evidence of study of the print and website resources provided

Description of course activities
This a 2-week rotation designed to give a student rapid exposure to the field of clinical genetics. On this rotation the student will be taught how to approach complex clinical pictures and determine if there is an underlying genetic etiology for the patients complaints. For known genetic conditions, the student will be taught surveillance, treatment, and multidisciplinary management for the conditions. Additionally, students will be given comprehensive coaching on note writing and presentation skills.

Type of students who would benefit from the course
Students that are interested in pursuing a career in clinical genetics or interested in getting more exposure to rare complex conditions.

Weekly Schedule
  Clinical Activities (estimated schedule)  
Day of Week   AM   PM
Monday 8:30 LC Clinic or Inpt Consult-VL & CL Cam 5:00
Tuesday 8:30 LC Clinic or Inpt Consult-VL & CL Campus 5:00
Wednesday 8:30 Galv PCP or Inpt Consults-John & Jenny Hosp 5:00
Thursday 8:30 LC Clinic or Inpt Consult-VL & CL Campus 5:00
Friday 8:30 @ Inpatient Consultations 5:00

 Average number of patients seen per week: 8-10
 Call Schedule: None

Research Activities (estimated schedule)
Activity Hours per Week
Faculty Contact-Time
Self-Directed Study

Method of Student Evaluation
1.  Clinical Observation
  A. Where are students observed on this elective?
    Inpatient Service   Ambulatory   Surgery   Standardized patients
Patients simulators   Other
  B. Frequency - How often are students observed clinically?
  C. Format - What method(s) are used to document the student's clinical performance?
    Daily oral feedback   End of period oral feedback   Written feedback

2.  Oral Presentation
  A. Audience - To whom does the student present?
  B. Frequency / Duration of Presentation(s)?
  C. Format - What guidelines are set for the student's presentation?
  D. Assessment - Who assesses the student's presentation performance?
    Self-assessment   Peer assessment   Faculty assessment
  E. Method of content selection
    Current cases  Student-selected topic   Assigned topic

3.  Written Assignment (H&P's, notes, papers, abstracts, etc.)
  A. Frequency of written assignment(s)?
  B. Format - What guidelines are set for the student's written work?
    Student is given thorough guidelines to follow prior to beginning the rotation for how to write notes on the patients and how to take a pedigree
  C. Length of written assignment(s)?
    Abstract   Annotated bibliography   1 - 2 page paper   3+ page paper
  D. Are recent references required?   No    If yes, how are they selected?
  E. Method of content selection - e.g. student-selected, relate to cases, etc.?
    Current Cases
  F. Audience - Who assesses the student's written performance?
    Peer Assessment     Faculty Assessment     Other

4.  Examination
    Oral   Written multiple choice   Written essay / short answer   OSCE

5.  Extra Course Activities
  What expectations do you have for the student to demonstrate participation in the elective (e.g. small group activities, seminars, thoughtful questions, providing resources, journal club, resident lecture attendance)?
    For Week 2 and 3 of July- if student desires to rotate with us during this time, the student will be expected to volunteer at Camp Phever, our annual camp for kids with PKU. The entire clinic faculty and staff will be in attendance. During this camp the student will serve as a camp counselor or staff volunteer. The schedule will be 24/7 for the week of camp. The experience will give the student advanced exposure to psychosocial aspects of living with chronic disease.

6.  Additional Costs
  Please list any additional costs and/or purchases (books, materials, movies to watch, etc.) that are required for this course. Include an estimated total cost. If there are no additional costs, please enter "None".
    None because Camp Phever is in Burlington, Tx and the camp covers housing and food.

7.  Other Modes of Evaluation
  Please explain below.

8.  If this course is an Acting Internship, please complete the following:
  A. Objectives for the AI should relate directly to the Entrustable Professional Activities (EPAs). Each AI should describe how the four key Year-4 EPAs that our school has identified as being Year-4 skills are assessed. The Year-4 objectives are:
1. Entering and discussing orders/prescriptions.
2. Give or receive patient handover to transition care responsibility.
3. Recognizing a patient requiring urgent or emergent care and initiating management.
4. Obtaining informed consent for tests and procedures.
Specify how the student will be given formative feedback on their clinical skills.

Year-4 students should demonstrate mastery of EPAs they developed in the clerkship year, including recommending and interpreting common diagnostic and screening tests, and performing general procedures of a physician. They should be able to demonstrate masterfully and independently skills they mastered in Years 2-3, including efficiently performing comprehensive admission-notes and succinct daily progress notes and perform accurate, concise, and hypothesis-driven clinical presentations, form clinical questions and retrieve evidence to advance patient care. They should be able to demonstrate basic understanding of and beginning mastery of collaborate as a member of the interprofessional team and identify system failures and contribute to a culture of safety improvement.

List advanced clinical skills that a student will be assured an opportunity to practice.

How specifically will this AI build on developing skills from the clerkship year to prepare students for internship?

What opportunities will typically be available to all students who take this AI (procedures, required presentations, etc.)? What opportunities may be available based on patient load/presentation or student initiative (ie. Writing a case report)?

An AI should have expectation of a minimum of 32 hours per week of clinical responsibilities. Duty hours should be capped at ACGME limits for an intern, thus up to 24 hours followed by 4 hours of activities related to patient safety, education, and handoff. Students cannot work more than 80 hours per week averaged over 4 weeks. They can only have 1 day off in a 7-day work week with 8 hours off between shifts.

Clinical responsibilities will vary depending on specialty, but how is the student functioning with work commensurate to a PGY1 with an appropriate level of training?

How is the student demonstrating drawing clinical conclusions and/or developing a management plan and documentation as an intern would do?

How and by whom will midpoint feedback be provided to the student? How will you remediate deficiencies identified at midpoint?

Acting Internship students often seek letters of recommendation following their experience. How many different Faculty will work directly with the student and have knowledge of the student's abilities to detail in a written evaluation? Describe the degree of supervision and interaction with faculty vs. residents or other providers and how feedback will be obtained if more direct work is with residents or other providers.