Pediatr Pulmonol. 2025 Dec;60(12):e71416. doi: 10.1002/ppul.71416.
ABSTRACT
INTRODUCTION: Applications of genetic and genomic testing are increasing in clinical practice. However, access to genetic counselors (GCs), who can provide information and support to patients and providers, is limited and in high demand. We sought community feedback on a centralized cystic fibrosis-specific genetic counseling telehealth service (CFgc-T) as a novel, equitable solution.
METHODS: We conducted virtual focus groups using semi-structured interview guides for service providers (GCs), referrers (CF center and newborn screening [NBS] program staff), consumers (people with CF [pwCF], their partners, parents of pwCF or positive CF NBS results), and payors. Transcripts were coded, deductive and inductive methods were used to identify core service model features, and the Consolidated Framework for Implementation Research (CFIR) guided assessment of barriers and facilitators to inform model design. We then prepared a video description of the CFgc-T model and sought feedback via survey from clinicians at 287 CF care centers and 52 consumers.
RESULTS: Across 15 focus groups (n = 67 participants), experience with a GC (not necessarily CF-specific) varied. Referrers and providers supported CF-specific GC access, emphasizing the importance of scheduling flexibility, availability, and addressing systemic barriers (e.g., insurance, licensure, language). Consumers desired accurate, digestible information. Participants expressed concerns about discussing sensitive topics over telehealth, technology barriers, and cost; consumers were amenable to paying typical co-pays for valuable, accessible service. Additionally, 26 consumers and 67 clinicians provided feedback via survey. Overall, 58% of clinicians expressed interest in becoming a pilot site in a future implementation study, and 96% of consumers would refer family and friends to the CFgc-T service.
CONCLUSIONS: A centralized CFgc-T service staffed by GCs with CF expertise could improve equitable access to CF-specific genetic counseling and was viewed favorably by key community members. Telehealth delivery may help resolve workforce shortages in specialties where few GCs have relevant expertise, offering a scalable, equitable model for care.
PMID:41451894 | DOI:10.1002/ppul.71416
