The Utility of Referrals from a State Early Intervention System to a Pediatric Genetics Clinic to Increase Access to Genetic Services

Mikayla Jennings, University of South Carolina

Abstract

Infants or toddlers enrolled in state early intervention programs have developmental delays or are diagnosed with conditions that may result in developmental delays. These infants receive a wide range of services from early intervention. In the state of South Carolina, children in the early intervention program are offered genetic evaluations at no cost to the family. Exploring the relationship between state early intervention systems and genetic clinics and the impact on this particular patient population can provide support for new and continued use of this service delivery model. The purpose of this study was to evaluate the service delivery model used by the Greenwood Genetic Center (GGC) and South Carolina’s early intervention system, BabyNet, to determine if their collaboration effectively increases access to genetic services. This study was a retrospective review of electronic medical records, comparing participants referred by BabyNet to those referred by other providers. Participants referred by BabyNet and who received a genetics evaluation by eVisit were also compared to those who had in-person or telemedicine visits to assess eVisits as an alternative service delivery model used for genetic evaluations of patients referred by early intervention. Included in the study were 680 participants who had an initial clinical evaluation through GGC from March 2022 to March 2023 and were under three years of age at the time of their visit. A statistically significant difference (p<0.05) in the distribution of race and ethnicity between BabyNet and provider-referred patients was found. For over 50% of the BabyNet-referred participants, genetic testing was indicated. These findings support that BabyNet referrals increased access to genetic services for racial and ethnic minority groups and that this particular population is an ideal group to receive comprehensive genetic evaluations. The likelihood of identifying a genetic diagnosis did not differ significantly between different visit types. The median number of days from referral to visit was 111.5 days for in-person, 75.5 days for telemedicine, and 29.5 days for eVisits. This data provides evidence for using eVisits as an alternative service delivery model, as BabyNet participants evaluated by eVisit had similar diagnostic rates and fewer days from when their referral was placed to when their evaluation took place.