A study of disparities in access to genetic care pre‐ and post‐pandemic

Abstract

We aimed to explore the delivery of pediatric genetic care before and during the COVID‐19 pandemic and assess if disparities in care existed or emerged. We retrospectively reviewed the electronic medical record for patients 18 years old or younger seen in the Division of Pediatric Genetics between September 2019–March 2020 and April–October 2020. Outcomes included time between referral and new visit, recommendation and completion of genetic testing and/or follow‐up visit within 6 months, and telemedicine versus in‐person format. Outcomes were compared pre‐ and post‐COVID‐19 emergence across ethnicity, race, age, health insurance, socioeconomic status (SES), and use of medical interpretation services. Three hundred thirteen total records were reviewed with comparable demographics between cohorts. Cohort 2 had shorter times between referral and new visit, greater telemedicine utilization, and a greater proportion of testing completed. Younger patients tended to have shorter times between referral and initial visit. In Cohort 1, those with Medicaid insurance or no coverage had longer referral‐initial visit times. In Cohort 2, there were differences in testing recommendation based on age. For all outcomes, no disparities were observed across ethnicity, race, SES, or use of medical interpretation services. This study characterizes the impact of the pandemic on pediatric genetics care delivery at our center and may have wider implications.

Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss

“…Genetic testing has proved to be a cost‐effective way to diagnose conditions and direct medical resources toward appropriate therapies, surveillance, or treatment, though many barriers and limitations remain implementation of such testing (Muth et al., 2019 ; O'Brien et al., 2021 ; Serrano et al., 2023 ). The COVID‐19 pandemic both exposed these access disparities and eased some barriers by increasing the uptake of telemedicine in genetics clinics, willingness to share genetic information, and to undergoing genetic testing (Deruelle et al., 2023 ; Macalino et al., 2023 ). However, some challenges were exacerbated such as the exclusion of patients without reliable access to the internet or technological literacy to utilize telemedicine (Mann et al., 2021 ).…”