(150) Initiation of standardized care pathway for CRMS patients and CRMS clinic at large CF center

Background: With the initiation of newborn screening (NBS) for cystic fibrosis (CF) there has been an increase in inconclusive diagnoses and infants with suspected CFTR-related metabolic syndrome (CRMS). The Children’s Healthcare of Atlanta and Emory University Pediatric CF Program identified a need for consistency in care for patients diagnosed with CRMS. At our institution, individuals diagnosed with CRMS may be followed by either CF providers or general pulmonologists. European guidelines published in 2021 [1] precipitated an effort to standardize care across providers at our large CF center as well as general pulmonology groups. This quality initiative developed a standard CRMS care pathway based on guidelines and provider preference and established a CRMS clinic.

Methods: A 7 question survey about CRMS management was distributed to all pediatric CF providers. The survey consisted of 7 multiple choice, and 1 open ended response question. Questions focused on provider preference for management such as follow-up timeline, throat and sputum cultures, as well as age of transition.

Results: Survey data revealed discrepant preferences across providers for CRMS management. The majority of providers reported that they would refer to CRMS clinic run by an APP that also has a genetic counselor present for annual management following established diagnosis of CRMS. Time of referral was split with 22% choosing to refer immediately after diagnosis, 44% after 6 months old, and 33% after 2 years of age. Preference for throat cultures was split at 50%. Transition from CRMS clinic to as needed (PRN) rather than annually was divided with preference at 6 years old (20%), 14-16 years (40%) and 18 years old with transition to adult CF center (40%). Results of the survey were reviewed at a clinic-wide QI meeting and a final care pathway flow-chart was created and distributed to all providers for reference of new standardized care pathway.

Conclusions: This QI initiative aimed to optimize consistency of care for patients with CRMS. Results of the survey emphasize that provider preference still varies. Based on these findings and guideline implementation, our CF center has created a biannual CRMS clinic that is managed by APPs and CF genetic counselor. The distributed flow-chart provides standard management for provider prior to referral to annual CRMS clinic. Inclusion of a genetic counselor in these clinics was emphasized by providers in open-ended responses and will provide opportunity for regular variant review, updates on variant classification and counseling for families, as needed.

Acknowledgements:

References: [1] Barben J, Castellani C, et al., (ECFS NSWG). Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID). J Cyst Fibros. 2021 Sep;20(5):810-819. Epub 2020 Nov 27. PMID: 33257262.