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. 2021 Dec 1;4(12):e2140998.
doi: 10.1001/jamanetworkopen.2021.40998.

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

Donald B Bailey Jr  1 , Katherine Ackerman Porter  1 , Sara M Andrews  1 , Melissa Raspa  1 , Angela Y Gwaltney  1 , Holly L Peay  1
Affiliations

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

Donald B Bailey Jr et al. JAMA Netw Open. .

Abstract

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.

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Conflict of interest statement

Conflict of Interest Disclosures: All authors are employees of RTI International. Dr Bailey reported receiving grants from Orchard Therapeutics, Sarepta Pharmaceuticals, BioMarin, Travere, and EveryLife Foundation during the conduct of the study and grants from Janssen Pharmaceuticals and the John Merck fund as well as donated reagents and loaned equipment from Asuragen outside the submitted work. Dr Porter reported receiving grants from Orchard Therapeutics, Sarepta Pharmaceuticals, BioMarin, Travere, and EveryLife Foundation during the conduct of the study and grants from Janssen Pharmaceuticals, the John Merck Fund, and Health Resources and Services Administration (HRSA) as well as donated reagents and loaned equipment from Asuragen outside the submitted work. Dr Andrews reported receiving grants from Sarepta Therapeutics, Orchard Therapeutics, BioMarin Pharmaceutical, Travere Therapeutics, and EveryLife Foundation for Rare Diseases during the conduct of the study and grants from the John Merck Fund, CureSMA, the Muscular Dystrophy Association, and Sarepta Therapeutics as well as donated reagents and equipment from Asuragen outside the submitted work. Dr Raspa reported receiving grants from Sarepta Therapeutics, Orchard Therapeutics, BioMarin Therapeutics, Travere Therapeutics, and EveryLife Foundation during the conduct of the study and grants from HRSA Evaluation of Heritable Disorders Program, HRSA Severe Combined Immunodeficiency (SCID) Screening and Education: SCID Compass, HRSA New York Mid-Atlantic Caribbean Regional Genetics Network, and the Centers for Disease Control and Prevention Enhancing Disease Detection in Newborns: Building Capacity in Public Health Laboratories outside the submitted work. Dr Gwaltney reported receiving grants from Orchard Therapeutics, Serepta Pharmaceuticals, BioMarin, Traverse, and EveryLife Foundation during the conduct of the study and receiving grants from Early Check, HRSA SCID Screening and Education, and the John Merck Fund as well as donated reagents and equipment from Asurgen outside the submitted work. Dr Peay reported receiving grants from Orchard Therapeutics, Sarepta Therapeutics, Biomarin, Travere, and EveryLife Foundation during the conduct of the study and grants from Janssen Pharmaceuticals, the John Merck Fund, and Muscular Dystrophy Association as well as donated reagents and equipment from Asuragen outside the submitted work. No other disclosures were reported.

References

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