Expert Evaluation of Strategies to Modernize Newborn Screening in the United States

• Published in: JAMA network open 2021-12, Vol.4 (12), p.e2140998-e2140998
• Main Authors: Bailey, Jr, Donald B, Porter, Katherine Ackerman, Andrews, Sara M, Raspa, Melissa, Gwaltney, Angela Y, Peay, Holly L
• Format: Article
• Language: English
• Subjects: Child Health Services - standards; Expert Testimony; Female; Humans; Infant, Newborn; Laboratories; Medical screening; Modernization; Neonatal Screening - standards; Online Only; Original Investigation; Pediatrics; Pregnancy; Quality Improvement; Surveys and Questionnaires; United States
• ISSN: 2574-3805; 2574-3805
• DOI: 10.1001/jamanetworkopen.2021.40998

Novel therapies, including cell and gene therapies, can radically improve outcomes among patients with rare disorders, especially if provided early. Newborn screening (NBS) could support early access to novel therapies, but the speed of new therapy development is a disruptive event for which the public health NBS system and state newborn screening programs are unprepared. To identify and evaluate possible solutions for modernizing NBS. In this survey study, NBS experts representing clinical research, federal or state advisory boards, patient advocacy groups, industry, or state laboratories completed an online survey in which they considered 20 potential solutions for modernizing NBS and rated each. Participants considered 20 potential solutions in the 5 following domains: (1) timeliness of disorder review, (2) alternative mechanisms to offer screening for new disorders not currently part of NBS, (3) expanded data collection, (4) support for states, and (5) emerging methods of screening and their consequences. Mean ratings for each solution on efficacy, acceptability, feasibility, and sustainability. The survey was completed by 40 NBS experts (median [range] age, 54 [37-73] years; 22 [55.0%] women). Participants acknowledged that substantial change is needed to prepare the NBS system for rapid expansion of novel therapies; on a scale of 0 (no change) to 10 (extensive change), the median (range) score was 8 (2-10), with 18 respondents (45.0%) believing that the NBS would need many new components or an entirely new system to accommodate the changes. All solutions for modernization were considered potentially efficacious by at least 23 respondents (57.5%). The 2 most strongly endorsed were to establish mechanisms for cross-state data coordination for provisional disorders (38 respondents [95.0%]) and create a network of regional screening laboratories (36 [90.0%]). These were closely followed by aligning programs across federal agencies (35 [87.5%]), expanding funding for research (34 [85.0%]), expanding funding to states (34 [85.0%]), building capacity to identify genetic variants and an associated clinical database (34 [85.0%]), and conducting surveillance to study long-term outcomes (34 [85.0%]). In this study, there was consensus among experts that NBS needs to change if the system is to be prepared for a rapid increase in transformative therapies. To our knowledge, this is the first systematic inventory of potential solutions for modernizing NBS and exper