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DNA Today: A Genetics Podcast
Kira Dineen
355 episodes
6 days ago
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Life Sciences
Education,
Science
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Life Sciences
Education,
Science
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#351 Mock Cardiac Genetic Counseling Session
DNA Today: A Genetics Podcast
48 minutes 46 seconds
4 weeks ago
#351 Mock Cardiac Genetic Counseling Session
This is our fourth installment in our new Mock Genetic Counseling Session Series! In this episode, cardiac and pediatric genetic counselor Monisha Sebastin and student Avital Habshush perform a mock genetic counseling session. The session indication is a family history of sudden death.    This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   The Actors:   Monisha Sebastin, MS, CGC, (she/her) is Senior Genetic Counselor, Pediatrics at the Children's Hospital at Montefiore Einstein. In addition to providing genetic counseling services in genetics clinics, Sebastin specializes in rare diseases, cardiovascular genetics and immunogenetics. In 2018, she earned her Master of Science from Sarah Lawrence College. Sebastian has won multiple prestigious awards including the National Society of Genetic Counselors’ (NSGC) 2024 Audrey Heimler Special Projects Award and the 2022 Heart of Genetic Counseling Award in 2022. We caught up with her right after her win on Episode #212 of DNA Today. Sebastin has been principal investigator and contributor to several research projects, and her work has been published in numerous peer-reviewed journals. Her leadership roles include serving as the 2024 President of the New York State (NYS) Genetics Task Force, co-chairing the International Special Interest Group (ISIG) at the NSGC, among many other roles.    Avital Habshush (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Habshuch is a graduate of Yeshiva University with a B.S. in Biology. She previously served as a genetic testing coordinate at Dana-Farber cancer Institute. The premise of this mock case was Habshush’s work as part of her internship with DNA Today.    Mock Cardiac Genetic Counseling Session Outline   Indication: 30y AFAB referred to genetics by cardiologist for suspected hereditary LQT syndrome. The patient recently fainted during an exercise class and has a family history of fainting and sudden cardiac death. See cardiology evaluation summary attached.    Patient’s Name: Lev Loveheart    Cardiac Evaluation: Resting ECG obtained today shows sinus bradycardia (59 bpm) with prolonged QTc of 495 ms (Bazett). T-wave morphology is broad-based without ischemic changes. Electrolytes and TSH are within normal limits. A 14-day ambulatory ECG monitor (Zio patch) is pending. Given the syncopal event, prolonged QTc, and strong family history—including emotion-triggered syncope—the presentation raises concern for congenital Long QT Syndrome, likely type 2 (LQT2).   Contracting  Introduction  Understanding the referral: personal history of fainting and family history of fainting and sudden cardiac death  Overview of the session Setting expectations and goals Questions      Medical History Fainted “only a handful of times” estimates about 4 times in her lifetime  First time fainting was in second grade due to startling     Family History  Brother: died at age 25 while running  Maternal: family history not significant  Paternal  Aunt 55 who faints a lot, very emotional Grandfather died at 45 due to heart attack  Grandmother died of old age 90  Ancestry: Ashkenazi Jewish and Yemen    Patient education  Overview of genetics Explaining Long QT Syndrome and how this might explain family history    Risk assessment  Explain how family history factors in to your calculation Which genes/syndrome would you test for?  Who is the best person to be tested?    Shared Decision Making  Exp
DNA Today: A Genetics Podcast