Agena-logo-white-01

ON-DEMAND WEBINAR:

Cystic Fibrosis Screening: Laboratory Perspectives and Best Practices

Webinar Overview

CFTR variant panel guidelines have evolved significantly, from the original ACMG23 panel to today's expanded variant lists. This on-demand webinar walks laboratory professionals through that evolution and its practical implications for panel design, population diversity, and variant interpretation.

Topics include the shift from ACMG23 to expanded panels, alignment with current ACMG, ACOG, and CF Foundation guidance, panel design across diverse populations, ethnicity-aware analysis, residual risk calculation, and managing variants of uncertain significance (VUS).

Intended for laboratory scientists, directors, and professionals involved in CFTR variant analysis.

 

Learning Objectives

After completing this webinar, attendees will gain insights into: 

  • The evolution of ACMG CFTR panel guidelines, from ACMG23 to the expanded panel
  • Current ACMG, ACOG, and CF Foundation guidelines to CFTR panel design
  • CFTR panel design approaches across diverse populations
  • Calculating residual risk and manage variants of uncertain significance (VUS)
Untitled design (5)-1

Speakers

Josh Deignan, PhD, FACMG 
Associate Director, Molecular Diagnostics; Program Director, LGG Fellowship Program 
Fen Guo, PhD, FACMG, FCCMG 
Scientific Director & CLIA/CAP Lab Director, UPMC Clinical Genomics Laboratory; High Throughput Genomics Core, University of Pittsburgh 
Dr. Vicky Pratt, PhD 
Director of Scientific Affairs, PGx, Agena Bioscience 

Webinar Watch Now