Cystic fibrosis (CF) is one of the most common life-limiting autosomal recessive disorders, with a carrier frequency of approximately 1 in 25 individuals of Northern European descent and significant prevalence across all ethnic populations. Identifying carriers before or during pregnancy is a critical component of reproductive genetic counseling, enabling informed decision-making and proactive clinical management. For laboratory professionals, understanding the complexities of CF screening — from CFTR variant panel design to result interpretation and reporting — is fundamental to delivering accurate, equitable and clinically actionable screening outcomes.
This webinar provides laboratory professionals with a comprehensive review of current CF screening strategies, methodologies and quality considerations. Attendees will gain an in-depth understanding of CFTR variant panel composition, including the rationale for tiered and expanded panel approaches, residual risk calculation and the interpretation of results in the context of a patient’s ethnic background. Special attention will be given to the analytical and pre-analytical variables that influence assay performance, as well as the laboratory’s role in ensuring consistent and reproducible results across diverse patient populations.
The featured speakers will also address the importance of ethnicity-aware panel design and communication strategies for reporting results in ambiguous or complex scenarios. Attendees will explore real-world case scenarios illustrating how laboratory findings inform downstream clinical and reproductive decision-making, including confirmatory testing, partner screening and prenatal diagnostic options.
Additionally, the webinar will highlight updates from ACMG, ACOG and CF Foundation guidelines relevant to laboratory practice.
By the conclusion of this session, attendees will be better equipped to evaluate and optimize their laboratory’s CF screening program, navigate challenging result scenarios and collaborate effectively with clinical and genetic counseling teams to support informed reproductive decision-making.
Register for this webinar to learn how cystic fibrosis screening can support accurate CFTR testing, result interpretation and reproductive genetic counseling.
Speakers
Josh Deignan, PhD, FACMG, Associate Director, Molecular Diagnostics; Program Director, LGG Fellowship Program, UCLA
Dr. Josh Deignan, PhD, FACMG, is a Clinical Professor in the Department of Pathology and Laboratory Medicine in the David Geffen School of Medicine at UCLA. He is one of the Associate Directors of the UCLA Molecular Diagnostics Laboratories. He received his undergraduate degree in Genetics from the University of California, Davis, and his PhD in Pathology and completed his Medical Genetics Fellowship training at UCLA. He is board-certified by the American Board of Medical Genetics and Genomics (ABMGG) in Clinical Molecular Genetics and Genomics. He co-chairs the UCLA Laboratory Stewardship Task Force and is the Laboratory Genetics and Genomics (LGG) Fellowship Program Director. He is also a Molecular Genetics Director on the American College of Medical Genetics and Genomics (ACMG) Board of Directors.
Message Presenter
Fen Guo, PhD, FACMG, FCCMG, Scientific Director & CLIA/CAP Lab Director, UPMC Clinical Genomics Laboratory; High Throughput Genomics Core, University of Pittsburgh
Dr. Fen Guo is a board-certified Laboratory Geneticist in Laboratory Genetics and Genomics (LGG) by the American Board of Medical Genetics and Genomics (ABMGG) and in Molecular Genetics by the Canadian College of Medical Geneticists (CCMG). She also holds a New York State Laboratory Director Certificate of Qualification in Genetic Testing and Oncology.
Dr. Guo serves as the Scientific Director and CAP/CLIA Laboratory Director for the UPMC Clinical Genomics Laboratory (UCGL) and the High-Throughput Genomics Core (HTGC) at the University of Pittsburgh. In these roles, she leads clinical genomic testing and high-throughput sequencing programs, supporting the integration of advanced genomic technologies into patient care and research, as well as clinical operations and development initiatives in next-generation sequencing.
Her expertise spans clinical molecular genetics and precision medicine, with a focus on implementing advanced genomic technologies, optimizing laboratory workflows and improving diagnostic yield for rare and complex genetic disorders. Her research interests include multi-omics approaches to advance rare disease diagnosis and enable genome-first precision medicine strategies. She is committed to building collaborative efforts across academic, clinical and industry settings to advance genomics and patient care.
Message Presenter
Dr. Vicky Pratt, PhD, FACMG, Director of Scientific Affairs, PGx, Agena Bioscience
Dr. Pratt is the Past President of the Association for Molecular Pathology. Dr. Pratt continues to serve on the Centers for Disease Control and Prevention (CDC) GeT-RM program for reference materials for Molecular Genetics, the National Academy of Medicine’s Roundtable on Genomics and Precision Health and the American Medical Association’s (AMA) Molecular Pathology Current Procedural Terminology (CPT) Advisory committee.
Dr. Pratt graduated with a PhD in Medical and Molecular Genetics from Indiana University School of Medicine. Her fellowship training was in PhD Medical and Clinical Molecular Genetics at Henry Ford Hospital, Detroit, MI.
Message PresenterWho Should Attend?
This webinar will appeal to:
- Public Health Laboratory professionals
- Newborn Screening Laboratory Scientists
- Clinical Laboratory Scientists
- Laboratory Directors and Managers
- Molecular Geneticists
- Genetic Counselors
- Reproductive Genetics and Carrier Screening Program leaders
- Molecular Pathology Laboratory professionals
- Clinical Genomics Laboratory personnel
What You Will Learn
Attendees will gain insights into:
- Describing current CFTR variant panel designs for carrier screening, including the rationale for standard, tiered and expanded panel approaches across diverse populations
- Evaluating CFTR variant panel design considerations, including the implications of ethnicity-aware testing and the management of variants of uncertain significance (VUS)
- Applying current ACMG, ACOG and CF Foundation guidelines to laboratory workflows and quality assurance practices in CF carrier screening programs
Xtalks Partner
Agena Bioscience
Agena Bioscience is dedicated to enabling targeted genomic discoveries that fit the realities of modern laboratories. For more than 25 years, we have partnered with molecular laboratories to help answer defined genetic questions quickly and efficiently – all with a single, flexible platform.
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