#373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis cover art

#373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

#373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

Listen for free

View show details

About this listen

 This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis. 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: Marcely Ventura (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. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today. Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College. Mock Session Information: Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment. Case Details: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. Patient Name: Liam Ventura Parent Names: Mary and Sam Ventura Medical History: Pregnancy:UncomplicatedFull term (39 wks) via NSVDNo exposures or complications reportedNormal prenatal ultrasounds Newborn Screening:Elevated immunoreactive trypsinogen (IRT)Two CFTR variants identified on screening panel Development: Appropriate for ageGrowth: Slightly below weight percentileSymptoms: Mild cough, parents believe it’s due to the change of weatherSpecialists Seen: Pediatrician only so farMedications/Treatments: None currentlyTherapies: None currently Family History: Ancestry: Dad- Irish Mom- Af. AmericanNo consanguinity, birth defects, or known genetic conditionsNo history of cystic fibrosis or early infant deathsOne paternal cousin with male infertility Prior Carrier Results: Dad- F508del Carrier Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T Pediatric Mock Session Outline Contracting Greetings and introductionsReason for referral to genetic counseling (positive newborn screening for CF)Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?” Address patient questions or concerns such as:“What does this mean for our baby?”“Does this mean he has cystic fibrosis?”“Could this happen again in another pregnancy?”“Did we do something to cause this?” Medical Intake Review pregnancy and delivery historyReview newborn historyReview of systems with focus on:Respiratory symptomsDigestive symptoms and growth patternsFrequency of ...
No reviews yet
In the spirit of reconciliation, Audible acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.