The Problem
Genetic counseling is an important part of care for anyone affected by cystic fibrosis (CF) — whether they have been diagnosed with the disease, carry a genetic variant in the gene responsible for CF that may put future children at risk, or have a baby with a positive CF newborn screening result and are waiting for further evaluation. Counseling can help individuals understand what to expect after their child is diagnosed or help families better plan for higher-risk pregnancies.
The Cystic Fibrosis Foundation (CFF) supports genetic counseling as part of specialized CF care. But, many CF care centers don’t have access to either any genetic counselors or genetic counselors with up-to-date, CF-specific knowledge. As a result, people affected by CF face inequitable access to this care and may miss out on important information about the condition.
Our Solution
Through a partnership with Northwell Health, Brigham and Women’s Hospital, and Johns Hopkins Medical Institutes, a team at Ariadne Labs is working to use telehealth to make genetic counseling more accessible in CF centers.
Our project, called IMPACCT (IMProving Access to CF-specific genetic Counseling via Telehealth), partners with an existing genetic counseling telehealth company (the Genetic Support Foundation) and a select group of CF care programs across the United States that do not have CF-specialized genetic counselors. We have developed a pathway that will allow the CF care centers to integrate remote access to highly-trained genetic counselors into their practice so that patients can virtually meet with a genetic counselor.
The main goals of the project are to:
- Train a cohort of telehealth based genetic counselors to provide CF-specific genetic counseling for patients at participating CF centers;
- Monitor how well the program works by tracking how many people use it, how well it operates, and what patients and CF center staff think about it; and
- Explore the long-term financial sustainability of the program.
Before launching IMPACCT, we sought community feedback on a centralized CF-specific genetic counseling telehealth service as a novel, equitable solution to closing this gap in care access. We found that offering this option can bring counseling access to more CF centers, and that both patients and CF care teams support this model.
Through this work, we hope to support more equitable access to highly-trained genetic counselors so that more patients and families can benefit from this important service. If this approach is successful, it can serve as a model for improved access to genetic counseling services for numerous other rare diseases.
Resources
Langfelder-Schwind E, Basile M, Moyal-Smith R, Polo J, McGinniss MA, Petersen J, Talavera J, Schwind H, Parad RB, Raraigh KS. Increasing Access to Genetic Counselors With Disease-Specific Expertise: Development of a Centralized Cystic Fibrosis Genetic Counseling Telehealth Model. Pediatr Pulmonol. 2025 Dec;60(12):e71416. doi: 10.1002/ppul.71416.
Langfelder-Schwind E, Raraigh KS; CF Newborn Screening Genetic Counseling Workgroup; Parad RB. Genetic counseling access for parents of newborns who screen positive for cystic fibrosis: Consensus guidelines. Pediatr Pulmonol. 2022 Apr;57(4):894-902. doi: 10.1002/ppul.25806. Epub 2022 Jan 11.