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

Autor: Melissa Raspa, Katherine Porter, Donald Bailey, Holly Peay, Sara Andrews, Angela Gwaltney
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: JAMA Network Open
ISSN: 2574-3805
Popis: Key Points Question What solutions do subject matter experts recommend to prepare newborn screening for a rapid increase in the number of transformative therapies that must be provided early in life? Findings In this survey study, 40 experts in newborn screening evaluated 20 potential solutions. The highest rated solutions addressed cross-state variability, national harmonization, data needed for clinical and policy decisions, and support to expedite state implementation. Meaning These findings suggest that a coordinated national vision that incorporates effective solutions will be needed for newborn screening to accommodate an increasing number of transformative therapies.
This survey study identifies and evaluates expert recommendations for modernizing newborn screening in preparation for rapid increases in the number of novel therapies that must be provided early in life.
Importance 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. Objective To identify and evaluate possible solutions for modernizing NBS. Design, Setting, and Participants 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. Exposures 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. Main Outcomes and Measures Mean ratings for each solution on efficacy, acceptability, feasibility, and sustainability. Results 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%]). Conclusions and Relevance 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 expert perceptions of each. The findings suggest that the modernization of NBS will require the integration of highly rated solutions, strategic planning, and coordination among multiple stakeholders.
Databáze: OpenAIRE