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Jul 25
48m 46s

#351 Mock Cardiac Genetic Counseling Ses...

Kira Dineen
About this episode

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.

 

Survey for Monisha Sebastin's Global Genomics Services Directory

We want to take this opportunity to announce a project of Monisha Sebastin’s aimed at improving global access to genetics and genomics services, and they need your help! Monisha Sebastin and her team have been working on the Global Directory of Genetics Professionals, a centralized platform to connect providers across the globe and streamline care for patients, especially those requiring cross-border genetics services.

We’re reaching out to genetics providers like YOU to gather data and contact information for this invaluable resource. If you’re a genetics professional, please take a few moments to fill out the survey and ensure your inclusion in the directory. It took our host Kira Dineen 6 minutes to fill out the survey. 

Your participation will help foster better connections in genomics care worldwide, benefiting both providers and patients alike. So please, take the 6-minute survey here.

 

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 
    • Explain the type of testing
    • Explain the 3 types of results 
    • Asking the patient if they are interested in testing? 
    • GINA

 

  • Recommendations and Next Steps 
    • Summarize session
    • Offer resources 

Relevant Cardiac Genetic DNA Today Episodes:

Episode #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally

Episode #287 Familial Hypercholesterolemia with Jess and Julie

Episode #283 Cardiogenetics with Blueprint Genetics

Episode #76 Amy Sturm on Cardiac Genetic Counseling

Cardiac Genetic Resources:

National Society of Genetic Counselors’ Cardiovascular Genetics Special Interest Group

New York City’s Office of the Chief Medical Examiner Molecular Genetics Laboratory

Long QT Syndrome GeneReview’s Overview

Sudden Arrhythmia Death Syndromes: Long QT Syndrome 

Previous installments of our mock genetic counseling session series:

Episode #311: Cancer Session for Breast and Prostate Cancer Family History

Episode #317: Prenatal Session for Advanced Maternal Age

Episode #331: Pediatric Session for Autism

 

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. 

 

The next new episode of DNA Today will drop next Friday! New episodes are released every Friday. In the meantime, you can binge over 350 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Stamford Studios. 

 

DNA Today is hosted and produced by Kira Dineen. Our video lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

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