PEDU-4021 - Medical Genetics

PEDU-4021 - Medical Genetics

Elective Title: Medical Genetics
Course Number: PEDU-4021
Elective Type: clinical Duration/Weeks: 4 Max Enrollment: 1
Prerequisites: Successful completion of Year 2
Additional Requirements: C-Form required. Successful completion of Pedi Clerkship. Contact Dr. Ray in advance for location assignments.
Responsible Faculty Director: Joseph W. Ray, MD Periods Offered: 1-13 excluding holiday period 8 
Coordinator: Tiffany Swain Other Faculty: Erin Cooney, MD Megan Morand, MS, CGC Swetha Narayanan, MS, CGC Jenny Do, MS, CGC
Location to Report on First Day:
Genetics Division, Department of Pediatrics, Room 3.350K, Research Building 6, 9:00 am.

1. Students will learn about conditions with genetic etiologies such as chromosomal anomalies and single gene defects. Students will become proficient in evaluating dysmorphic features, identifying syndromes, understanding newborn screening, and coordinating a multidisciplinary team for complex conditions such as inborn errors of metabolism. There will be intermittent reading assignments, and evaluation of patients in the clinical setting and consult setting. The diversity of patients will be a broad spectrum from neonatal to adult.
2. The student will learn to make a detailed genetic evaluation through improved history taking and expanded physical examination.
3. The student will learn appropriate diagnostic testing.
4. The student will learn counseling techniques.

At the completion of this course the student should be able to:
1. Obtain a family history of a person.
2. Perform an extended physical examination including measurements and evaluation of unusual features.
3. Formulate a plan for total evaluation of the patient and/or family members.
4. Recommend appropriate testing for diagnosis
5. Advise families regarding genetic disease

Description of course activities
1. The student will see patients in Genetics Clinic and take a complete medical history, family history, and psycho-social history.
2. The student will perform a complete physical examination.
3. The student will play an essential part in planning the other studies and consultations necessary to complete evaluation of a patient.
4. The student will assist in formulating a management plan.
5. The student will be an integral part of the counseling session.
6. The student will participate in seminars, rounds, and conferences in the Pediatrics Department.
7. The student will become familiar with laboratory techniques used in evaluating a patient with a genetic disorder.

Type of students who would benefit from the course
Any student will benefit from genetic exposure, however students that are interested in pediatrics, family medicine, ob/gyn, neurology, cardiology, endocrinology, renal, and hematology/oncology will benefit most from the course.

Weekly Schedule
  Clinical Activities (estimated schedule)  
Day of Week   AM   PM
Monday 830-12 / Bay Colony Clinic 1-5 / Bay Colony Clinic
Tuesday 830-12 / Bay Colony Clinic 1-5 / Bay Colony Clinic
Wednesday 830-12 / Primary Care Pavilion 1-5 / UHC, 3rd floor
Thursday 830-12 / Bay Colony Clinic 1-5 / UHC, 3rd floor
Friday 8-12 / UHC, 3rd floor 1-3 / UHC, 3rd floor

 Average number of patients seen per week: 29-30 in clinic, 4-5 consults.
 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?
    Every day we have consults and in children's genetics clinic we see patients together and give feedback.
  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?
    Faculty and other students and staff (genetic counselor)
  B. Frequency / Duration of Presentation(s)?
    One in depth topic.
  C. Format - What guidelines are set for the student's presentation?
    They can select a topic of interest either surrounding a case or not.
  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)?
    Average 5 to 6 per week full patient assessments with pedigree per week. This is done in collaboration with the team or one of the faculty members.
  B. Format - What guidelines are set for the student's written work?
    We have an outline used in genetics clinics.
  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.?
    Related to 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)?
    small group activities and attending any resident lectures and asking questions while in clinic.

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".

7.  Other Modes of Evaluation
  Please explain below.
    faculty assessment

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.