The Evolving Complexity of CFTR Testing and Counseling: A Case-Based Approach

The cystic fibrosis (CF) genetic testing and counseling landscape is rapidly evolving. Transformative CFTR modulator therapies have improved length and quality of life for people with CF, while advanced screening detects CFTR variants that confer a wide and variable phenotypic spectrum, including variants associated with low or reduced penetrance. In this webinar, we will explore common clinical scenarios that result from CFTR screening and testing modalities and offer strategies to promote a nuanced approach to genetic counseling about CFTR variants in the context of conflicting classifications.

Presented by:

NSGC Cystic Fibrosis and CFTR Spectrum SIG
Elinor Langfelder-Schwind, MS, CGC
Emily Calamaro, MGC, CGC
Charlotte Close, MS, CGC
Angel Wooden, MS, CGC

Learning Objectives:

1. Apply reproductive genetic counseling principles to support family-building for individuals with cystic fibrosis in the era of highly effective CFTR modulator therapies.
2. Compare approaches to preconception/prenatal and newborn screening for cystic fibrosis with respect to potential diagnostic outcomes and associated management recommendations
3. Evaluate clinical and genetic factors associated with cystic fibrosis and CFTR-related conditions and their implications for patient monitoring and counseling
4. Synthesize CFTR variant interpretation resources to inform nuanced genetic counseling about unexpected CFTR findings

Genetic Counselors CEUs: 

The National Society of Genetic Counselors (NSGC) has authorized the National Society of Genetic Counselors (NSGC) to offer up to .1 CEUs or 1 Category 1 contact hour for the activity, The Evolving Complexity of CFTR Testing and Counseling: A Case-Based Approach. The American Board of Genetic Counseling (ABGC) will accept CEUs earned by participating in this program for the purposes of genetic counselor recertification.

Successful Completion: 

1. View recording
2. Pass quiz
3. Complete evaluation