Newborn screening pilot study in time of pandemic: Duchenne Muscular Dystrophy pilot project experience

ABSTRACT

Introduction: On 1st October 2019, a consented pilot study to screennewborns for Duchenne muscular dystrophy was initiated in NYS. Thepilot study is a collaboration between Parent Project MuscularDystrophy, New York State Newborn Screening (NYS NBS) program,Northwell Health Hospitals, New York-Presbyterian Hospitals, NBSTranslational Research Network (NBSTRN), American College ofMedical Genetics (ACMG), and funders. Institutional Review Board(IRB) approved the study. However, the COVID-19 pandemic led todiscussions regarding ending the pilot study unless alternativeprotocols could be established.Methods: Prior to the pandemic, patient enrollment was conductedon-site. Study coordinators at hospitals consented families in-personusing e-consents built in REDCap™ (a secure web application forbuilding and managing online surveys and databases) on hospitalapproved tablets. The specimens were then shipped to the NBSprogram where they were tested for the NBS panel and procedureswere instituted to cross-check consent forms. Duchenne results werereleased on the standard NBS report. Any baby with a borderline resulthad to have a repeat NBS specimen collected and submitted to theprogram. Any baby with a positive result would be referred and seenby a clinical genetics team, and an additional blood specimen wascollected and submitted for second-tier molecular testing. Babies withpositive molecular test results would be followed by a specialist, andfamilies would be offered carrier testing and given information aboutDuchenne and the opportunity to participate in clinical trialsDuring the pandemic, fully remote patient screening, recruitment, andreporting processeswere implemented. The remote study effortswerecomplicated by staff retention issues, technical and software/Wi-Figlitches, computer illiteracy requiring extensive instructions (a subsetof patients), lack of email access. Paper consent mailing requiredsubstantial resources.Significant resources were required at the NBS program as well.Follow-up required research staff coordinate the redraw of thesamples with the parents and pediatrician’s office and referrals weremade by telehealth or in-person visits. For molecular testing, a buccalswab sample collection kit was mailed to the families opting fortelehealth.Conclusion: Despite the challenges, development of remote studyprocedures enabled successful continuation of the pilot during thepandemic. These newprotocols could be applicable in the absence of apandemic as a complementary method to in-person recruitmentprocess and follow up, which would facilitate enrollment of patientswho would otherwise be missed. Implementation of this hybridapproach leads to optimization of patient enrollment, which couldapply to a broad spectrum of future studies and clinical trials.