(55) Utilizing Telemedicine in a Cystic Fibrosis Newborn Screening Clinic

Background: Most patients are diagnosed with Cystic Fibrosis (CF) based on newborn screening (NBS). The goal of CF NBS is to achieve early CF diagnosis to start medical and psychosocial therapies prior to the onset of clinical symptoms to improve disease outcomes. Thus, infants require diagnostic testing by < 4 weeks of age. With the onset of the COVID19 pandemic and shut-down of nonurgent medical services from March-May 2020, many healthcare systems transitioned from traditional, in-person clinical visits to utilizing a telemedicine platform. We outline our IRB-exempt, quality improvement efforts to transition to a CF NBS clinic that occurs primarily via telemedicine at our CFF-accredited pediatric center in Delaware (DE).

Methods: The medical records of infants with inconclusive CF NBS referred to our clinic were reviewed from May 2020 – December 2021 once telemedicine visits were offered. Demographic information including date of birth, age completing NBS, age at referral for diagnostic sweat chloride testing (ST), number of family contacts to schedule ST, age at successful ST completion and format for subsequent discussion of results via telemedicine or alternate mode plus date reviewed. Additionally, charts of infants referred from DE and surrounding states were reviewed to assess ST success rates, need for additional testing, genetic counseling consultation or in-person CF clinic visits.

Results: A total of 187 infants (68 between May 2020-December 2020 & 119 infants in 2021) were referred. The average age at completion of the CF NBS was 1.4 (range 1-8) days in 2020 and 1.78 (range 1-14) days in 2021. The average age at infant referral for diagnostic testing was 10.7 (range 1-78) days in 2020 and 10.3 (range 0 to 150) days in 2021 in DE. The percentage of DE families contacted to schedule diagnostic testing at < 21 days of age was 92% (n=48/52 families) in 2020 and 94% (n=88/94 families) in 2021. The average number of contacts by the CF NBS clinic with family to schedule testing and appointments was 1 (range 1-5) in 2020 and 2 (range 1-10) in 2021. The overall ST success rate from May 2020-December 2021 was 87% (n= 189/217 ST completed). Diagnostic test results were relayed via telemedicine to 92 patients, telephone to 61 patients, in-person to 21 patients, primary care provider to 5 patients, or were not specified in 8 patients. Genetic counseling was completed for 9 families based on CF NBS results. Over the time period, 4 infants were diagnosed with CF- all had in-person clinic visits on average age 11 days (range 9 to 21 days). A diagnosis of CRMS was noted in 3 infants who received in-person visits on average age 20 days (range 16 to 21 days)-2 required rescheduling from telemedicine to in-person assessment within 24-72 hours of initial time based on intermediate ST results.

Conclusions: Telemedicine visits offer an alternate way to communicate diagnostic ST results to families of infants with inconclusive CF NBS. Infants identified with CF and CRMS were scheduled for a traditional clinic visit or required rapid follow-up scheduling for an in-person evaluation. A need for increased communication between CF NBS clinic staff and families to schedule and complete testing was noted. Future directions include assessing optimal ways to contact families and reminders for ST and clinical appointments.

Acknowledgements: Kathi Peeke APN, Delaware Newborn Screening Program, Nemours Genetic Stewardship Program.

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