#373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

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: Uncomplicated Full term (39 wks) via NSVD No exposures or complications reported Normal prenatal ultrasounds Newborn Screening: Elevated immunoreactive trypsinogen (IRT) Two CFTR variants identified on screening panel Development: Appropriate for age Growth: Slightly below weight percentile Symptoms: Mild cough, parents believe it’s due to the change of weather Specialists Seen: Pediatrician only so far Medications/Treatments: None currently Therapies: None currently Family History: Ancestry: Dad- Irish  Mom- Af. American No consanguinity, birth defects, or known genetic conditions No history of cystic fibrosis or early infant deaths One 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 introductions Reason 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 history Review newborn history Review of systems with focus on: Respiratory symptoms Digestive symptoms and growth patterns Frequency of infections Developmental milestones and any delays noted by parents Medications, supplements, or current therapies   Family History Construct a three-generation pedigree Ask about consanguinity, early childhood deaths, chronic respiratory or digestive issues, and male infertility Determine if any relatives have known carrier status for CF or other genetic conditions Patient Education: Overview of Genetics Explanation of autosomal recessive inheritance Each parent is likely a carrier of one CFTR gene variant With each pregnancy: 25% chance for a child with CF 50% chance to be a carrier 25% chance to be unaffected and not a carrier Cystic Fibrosis Overview Genetic condition that can affect the lungs and digestive system Caused by variants in the CFTR gene that affect how mucus and other secretions function Range of possible symptoms from mild to more significant depending on variants involved (explain variable expressivity) Genetic Testing Discussion Both parents previously had carrier testing done, dad came back with a variant and mom did not.  Testing options:  CFTR gene sequencing and deletion/duplication analysis for mom: c.1675G>A p.A559T variant is found afterwards Sample collection: Blood or saliva Results: Positive: Confirms CF diagnosis  Testing Process Turnaround time: 2–4 weeks Informed consent and shared decision-making Recommendations and Next Steps Proceed with diagnostic testing for Liam Offer CFTR gene sequencing to parents Coordinate follow-up once results are available, will call once results are available Provide educational resources on CF and genetic testing Discuss implications for future pregnancies   Relevant Cystic Fibrosis Genetic DNA Today Episodes: #147 CF Series: Bijal Trivedi on "Breath From Salt" #148 CF Series: Shuling Guo on Pharmaceuticals #149 CF Series: Boomer Esiason’s Son Gunnar on Patient Advocacy   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 Episode #351: Cardio Session for Sudden Death of A Family Member  Episode #368: Prenatal Session for Increased Nuchal Transluency  Disclaimer: 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.    Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].   

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