Clinical Human Medical Genetics

This course requires extensive preparation, including online trainings and vaccinations, that must begin at minimum the quarter before you plan to take the course. Please carefully read through the information about preparing for MOLMED 513.

MOLMED 513
SLN:
4 credits



Course Description and Objective

Students enrolled in the MOLMED 513 will observe and participate in patient evaluations in Medical Genetics clinics at the University of Washington Medical Center and Seattle Children’s Hospital. This will allow graduate students to gain insight and experience into the clinical implications of biomedical research, as well as understanding how questions raised in the clinical realm can be brought back to the lab to identify lines of research and to guide inquiry.

Overview

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

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.

Limited enrollment, instructor’s permission required.


Course Contacts

Peter H. Byers, MD, Course co-Director (pbyers@u.washington.edu)
Mitzi L. Murray ,MD, MA, Course co-Director (mlmurray@uw.edu)
Coordinator: Steve Berard (sberard@uw.edu or mmtp@uw.edu)

Preparing for the Course

PREPARING FOR THE COURSE
There is a considerable amount of preparation to be done prior to the course. You will need to start during the quarter prior to the one in which you wish to start. Do not leave this until the end of the quarter or you may find that you will be delayed a quarter.

The quarter prior to taking MOLMED 513:

  • HIPAA and IRB training
    This course requires that all students complete HIPAA training and complete the Human Subjects training module. Both are online and combined will take about 4-6 hours.
  • You MUST contact the directors with your student ID number to allow us to get the access codes for HIPAA training. This should be done early in the quarter prior to starting the course
  • You can take the Human Subjects training (Biomedical Course at the CITI website http://www.citiprogram.org/) without access codes. Bring your certificate of completion to either Dr. Byers or Murray.
  • Institution approvals
    You need to complete the observership forms for both Seattle Children’s Hospital and UWMC. This should be done prior to the beginning of the quarter to prevent unnecessary delays.
  • The link the Seattle Children’s Hospital site is: http://www.seattlechildrens.org/healthcare-professionals/education/observership/request/
    Please complete this as soon as you read this. Include the dates for the entire quarter and put Angela Sun, MD as the contact.
  • The UWMC observership form: http://depts.washington.edu/comply/docs/PP_04_D.pdf Please bring the completed form to Drs. Byers or Murray in D518 in the Health Sciences Building to be signed.
  • Immunizations
    You may need immunizations. Check the observership application forms and be sure that you complete the series prior to the beginning of the course.
  • TB Test
    If you have not had a TB test in the last year, you will need to get one. Molecular Medicine will cover the cost—email mmtp@uw.edu about this.
  • Agreement from research advisor
    Because the time spent is irregular and not the same each week, you need to be sure that this course fits with your laboratory time needs.

Course Outline

COURSE OUTLINE

  • Before the Quarter Begins
    See Preparing for the Course.
  • Dress Code for Clinic
    You should wear professional clothes. Professional clothing can be considered similar to what you would wear if you were presenting at a scientific meeting. Suits are not necessary, but men can consider a button up shirt (with or without tie) and slacks. Women can consider blouses or sweaters with slacks/skirt or a conservative dress. Jeans, t-shirts, tennis shoes, open toe sandals and similar casual attire are not appropriate. If you have questions about dress, ask a course director.
  • Picture ID
    You must have picture ID issued by UW available and visible during your time in the clinic.
  • Contact the Clinic the week before you are scheduled to attend
    To be sure that you have everything in hand that you need, call the contact person for the clinic so that they can orient you and tell you how to get there and when. This will also remind them to expect you in clinic on that date. See clinic contacts page.
  • Activities for Clinic Rotations
    You will get a schedule of people you may see prior to the clinic and should read about the suspected or confirmed genetic diagnosis before the clinic appointment. Some recommended resources for information are:
    • Search for timely articles on PubMed.
      The availability and quality of review articles will vary, depending upon the specific genetic disorder.
      It is also advisable to survey recent publications on a specific disorder, specifically studies addressing key issues in understanding the pathophysiology or treatment of the disorder. If possible, read 2-3 recent articles in depth and carefully critique how the study contributes to the understanding of the disorder or clinical care provided for individuals living with the condition.
    • Search for support groups or patient-centered organizations online
      Some group websites offer valuable perspectives on living with a disorder or the complications of a genetic condition that may be difficult to appreciate in the clinical setting. This will also vary, depending on the condition.
  • At the end of each clinic
    After each clinic, please write a 1-2 page summary of one of the families/people that you saw with the questions to be considered. Then summarize the important parts of the condition and outline any of the recent scientific advances in understanding and/or treating the disorder and any way you see those advances could have come from characterizations of the disorder.
  • Additional required activities

Medical Genetics Journal Club and Clinic Conference
Journal Club: Wednesdays, 8:30-9:30am, K250
Clinic Conference: Wednesdays, 9:30-10:30am, K250

Medical Genetics Seminar
Fridays, 12:30-1:30pm, K069
http://depts.washington.edu/medgen/seminars.html

Molecular Cases
During the weeks of molecular genetics, you will attend the Collagen Diagnostic Lab meeting and will complete 2 learning cases each week (4 total).

Optional activities

Monthly IEM (Inborn Errors of Metabolism) Conference
1st Wednesday; 4:15pm-5:15pm (August hiatus)
Seattle Children’s Hospital; usually in SDR1&2, in the cafeteria area, near Whale 5 entrance

Monthly Pediatric Case Conference
Seattle Children’s Hospital
Dates and locations vary, ask if interested

Clinic Contacts

CLINIC CONTACTS

Adult Genetics and Adult Cancer Clinics, UWMC
Adult Genetics: Tuesday, CHDD, 2nd floor
Adult and Cancer Genetics: Thursday, CHDD, 2nd floor

Fuki Hisama, MD, Director fmh2@u.washington.edu
Robin Bennett, MS, CGC, Co-Director robinb@u.washington.edu
Debbie Olson, Program Director olsondl@u.washington.edu

Pediatric Genetics, Seattle Children’s Hospital
Clinics: Vary–Contact Dr. Angela Sun one week in advance of scheduled week for information

Angela Sun, MD angela.sun@seattlechildrens.org

Biochemical Genetics, UWMC/CHDD
Clinic: Thursday Noon-4pm, CHDD, 2nd floor

C. Ronald Scott, MD, Director crscott@u.washington.edu
Vicki Frasher, Coordinator vam@u.washington.edu
Katie Golden-Grant, Genetic Counselor klgg@u.washington.edu

 

Molecular Genetics, Collagen Diagnostic Laboratory, UWMC
Monday 10am-Noon, C516, Health Sciences Building
One half-day of choice to work through cases

Peter H. Byers, MD, Director pbyers@u.washington.edu
Mitzi L. Murray, MD, MA mlmurray@u.washington.edu