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CLIN
Consultation Clinic

CC05--Diagnostic & Counseling Challenges

Saturday, September 28, 2024
8:00 AM – 9:15 AM ET
Location:253 A-C

With widespread availability and application of CFTR testing, CF care team members need a deeper understanding of CFTR clinical genetics and counseling as they apply to screening, diagnosis, and therapeutic options. This session will take a clinically focused, practice-based approach, utilizing case-scenarios to illustrate key concepts in genetics and genetic counseling that are commonly seen in CF care centers. We will highlight the challenges of variants not clearly associated with CF, approaches to genetic test selection that address the needs of a diverse CF population, uncertainty in attributing phenotypes to CFTR dysfunction, and will untangle the web of 5T. Participants will be empowered with new knowledge and a host of genetic counseling resources to apply to their clinical practices.

Learning Objectives:

  • Identify how the overlap of signs and symptoms with other conditions or unusual presentations can complicate the diagnosis of CF.
  • Apply real-world examples that integrate genetic interpretations and counseling into diagnostic and care algorithms.
  • Distinguish how online resources, including CFTR2 and CFTR-France, can inform interpretations of CFTR variants.

Presentations:

  • 8:00 AM – 9:15 AM ET
    CC05.1- True, True, & Unrelated or Just Another Diagnostic Dilemma?

    Speaker: Christopher M. Oermann, MD – Children's Mercy Kansas City

  • 8:00 AM – 9:15 AM ET
    CC05.2- Two adult siblings with CFTR variants F508del and A349V

    Speaker: Rebecca E. Cagnina, MD, PhD – Boston Children's and Brigham and Women's Hospitals

  • 8:00 AM – 9:15 AM ET
    CC05.3- A Case of Severe Intestinal Dysfunction: Was it CF All Along?

    Speaker: Alma Chavez, MD – Providence Sacred Heart Pediatric Pulmonology Clinic

  • 8:00 AM – 9:15 AM ET
    CC05.4- When the Algorithms Don’t Quite Fit: Genetic Counseling & Diagnostic Challenges in a Healthy Three-year-old with F508del & 5T

    Speaker: Elinor Langfelder-Schwind, MS, LCGC (she/her/hers) – Lenox Hill Hospital/Northwell Health