Topic outline

  • General

  • Topic 1

    • File icon

      50+ cases prepared by genetics attendings, residents, and medical students to learn about genetic disorders. These could be used for a group discussion or for self study (what I usually use them for)

      Submitted by Debra Regier.  I give permission for others to modify and use for educational purposes.

    • File icon

      5 dysmorphology cases:

      Using Zoom, we created 5 break-out rooms with a chief resident or genetic counselor "mentor" in each room with one of the attached cases. As individuals came into the room, I assigned them randomly to break out rooms.  Each room also had one on-site "team" of people in a room (i.e. the cardiology team of 2 residents was in a room with other individuals at home).

       I opened the session with orientation on some commonly used genetics resources (see first few slides).  Then, each person on the call (about 30 single individuals from home and 5 "teams" in their work rooms) were assigned to a break out room. There, they answered the questions asked. 

      Second, the created a PICMONICS-style drawing for the disorder their case described.

      Then, each group showed their picture (some were on paper and they held up to the camera, some were in team white boards, some were quickly built on ppt--each team decided what to do themselves) and went through their though process and what resources they used.

      At the end, each team sent their images to the chief residents.  The chiefs sent out the pictures to the full residency program in the week in review email and there was voting and the "team" that won received fights to house the "calamity clock" (yes...really a clock I wrote "calamity" on that they have in their room that can be wiped down and moved to another room after the next genetics noon conference!.

      Submitted by Debra Regier.  I give permission for others to modify and use for educational purposes.

    • URL icon

      Using the above video as a basis, I have participants "create" their own pathway model thinking through the pathways.  I have them draw in real time on their own at home and we have everyone on speaker phone while drawing it.  Then, I give them the link as a review tool for when they want to go back to the information.

      The in-person (or via zoom or webex) takes about 20-30 minutes for me if I ask for their input often and only draw with their feedback. I've only tried this with up to 10ish people at a time, but more might work if you had another person watching the "chat" box during the zoom.

      Submitted by Debra Regier.  I give permission for others to modify and use for educational purposes.

    • File icon

      Using the product of a QI project (Billington, Snyder, Regier), I have a group discussion over Zoom regarding why metabolic patients are admitted.  The most common answer is vomiting or fever.  We then, use each sub-category and discuss that vomiting/fever leads to metabolic decompensation and the underlying fear are the categories (brain edema, hypoglycemia, rhabod, stroke/clot, cardiac dysfunction). 

      When the team "gets" the sub-category, I "paste" it into the powerpoint (I make it so it goes in the order I want it to populate by copying/pasting from a second copy of it and only "showing" the one that I'm adding to on the screen). 

      Each "strip" has a situational awareness phrase (we use IPASS, but you could adapt to your program's hand-off system) and a list of the common rare disorders we have admitted to our hospital.

      To end the lecture, we talk about how these presentations should also make you think of these rare disorders.

      Since this does NOT include the lab testing we often do, I often recommend that they consider watching the 6 minute pathway video.

      Submitted by Debra Regier.  I give permission for others to modify and use for educational purposes.

    • Assignment icon

      Three interactive virtual newborns with onset of symtoms in the neonatal period. The modules require learners to create a differential diagnosis from a list of possibilities (i.e. genetic, metabolic, infectious, neurological, etc).

      Submitted by Debra Regier.  I give permission for others to modify and use for educational purposes.

    • URL icon

      This is a session I have done for a group of 3 medical students that we were trying to train using remote methods.

      We assign learners to "pre-watch" the BearGenes videos (see link) on DNA, CMA, WES, sequencing, types of inheritance, and outcome types.  We warn them that they will be doing "pre-test" counseling for a test type (CMA, WES, sequencing). 

      At the beginning of the session, we give each person about 5 minutes after they are given a test type to review the beargenes video or practice once on their own.

      Then, we have them do it in real time.  This takes about 20 minutes. 

      Then, we give each person a "diagnosis" to explain (we are asking them to describe the inheritance pattern).  They have 5 minutes to use genetics home reference to determine the inheritance pattern (we use AD, AR, X, and mito) and review the BearGenes video and then share with the group.  (about another 20 minutes).  I chose very straightforward disorders (XALD, PKU, and Marfan syndrome)

      Submitted by Debra Regier.  Please feel free to use and edit for educational purposes.

    • URL icon

      Great YouTube video with images and hints/tips for learners on the infant exam

      This was shared by Nina Gold via the Facebook Group.

    • URL icon

      This book by Dr. Robert Marion a powerful and moving account of his experiences in modern genetics.  Using stories, he reviews the moral complexities of genetics.

      Recommended by the FaceBook Woman's Group 

    • Assignment icon

      Usually, I use these papers as a "lunch" topic with medical students.  Now, we do it as a virual lunch over several days in a week (usually, I can do 3 in a week)

      Day 1) read Bell Curve

      -We discuss their opinions

      -We discuss the importance of a family's trust in a provider

      -We discuss hard conversations and long term relationships.

      Day 2) Read

      -We discuss the role of "new diseases" when we learn how to treat the original cause of death

      Day 3) We search the NORD website about family groups and their advocacy for new treatments