Abstract

The onset of the COVID-19 pandemic caused significant changes in healthcare delivery. Telemedicine rapidly and unexpectedly became the primary vehicle for ambulatory management. As newborn screen (NBS) referrals require varying levels of acuity, whether telemedicine could be used as a safe and effective medium to return these results were unknown. We sent an online survey to metabolism providers internationally to investigate triage differences of abnormal NBS results during the COVID-19 pandemic. The survey compared personal practice for the periods of March–June 2019 and March–June 2020. Responses were received from 44 providers practicing in 8 countries. Nearly all (93%) practiced in areas of widespread SARS-COV-2 community transmission during spring 2020. There was a significant expansion of telemedicine use for NBS referrals at the onset of the COVID-19 pandemic (OR: 12, 95% CI: 3.66–39.3, p < 0.0001). Telehealth primarily replaced in-person ambulatory metabolism visits. The increased frequency of virtual care was similar across NBS analytes. Providers found telehealth for NBS referral equally efficacious to in-person care. Institutional patient surveys showed no difference in satisfaction with provider communication, provider empathy, or appointment logistics. Our survey was limited by unprecedented disruption in healthcare delivery, necessitating further validation of telegenetics for NBS in the post-pandemic era. Nevertheless, our findings demonstrate that telemedicine is potentially a viable and practical tool for triaging abnormal NBS results.

Highlights

  • IntroductionThe COVID-19 pandemic has created seismic shifts in our practice of healthcare

  • The COVID-19 pandemic has created seismic shifts in our practice of healthcare.Urgently and unexpectedly, in-person visits were canceled, and providers navigated new platforms for telemedicine

  • The COVID-19 pandemic led to an unexpected expansion of telegenetics, leading to challenges in the diagnosis and management of inherited metabolic disorders (IMD) [8,9,10]

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Summary

Introduction

The COVID-19 pandemic has created seismic shifts in our practice of healthcare. In-person visits were canceled, and providers navigated new platforms for telemedicine. Metabolism providers quickly learned that the age-old advice “there is no perfect time to have a baby” still applied during a global pandemic. During the onset of COVID-19, there was no ideal way to manage newborn screen (NBS) referrals. A delicate balance emerged between preventing exposure and urgently evaluating at-risk newborns. Prior to COVID-19, telemedicine had been promoted as a solution for the geographical limits of genetics providers [1,2,3]. Telegenetics programs in New Zealand and through the Western States Regional Genetic Network preceded the pandemic [4,5]

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