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Publication Finds that Modernization of U.S. Newborn Screening System is Necessary, Calls for Change

Publication Finds that Modernization of U.S. Newborn Screening System is Necessary, Calls for Change

First study to delineate solutions to U.S. newborn screening system challenges and identify the need for modernization to keep pace with innovation.  

Washington, D.C. [January 5, 2021] – Last week, JAMA Network Open published Expert Evaluation of Strategies to Modernize Newborn Screening in the United States. This first-of-its-kind study evaluates the opportunities and challenges facing the U.S. newborn screening (NBS) system and presents a suite of proposals for modernization from a cross-section of experts.  

Many novel therapies, including cell and gene therapies, can radically improve outcomes in rare disorders, especially if provided early.  The pace of therapeutic discovery is accelerating, a future for which newborn screening must be prepared. The strategies identified in this study offer the first steps toward a modern newborn screening system where all babies in the U.S. have access to a timely diagnosis, thus reducing the risk of preventable injury and death.  

The study, conducted by researchers at RTI International, a non-profit research institute, enlisted 40 NBS expert stakeholders whose responses confirm that substantial change is needed to prepare the NBS system for the forthcoming rapid expansion of novel therapies. The cross-section of expert stakeholders identified feasible and effective solutions, including better data, increased alignment among states and federal agencies, expanded capacity for genetic technologies, and increased funding.  

The study concluded that building a next-generation NBS system will require extensive stakeholder engagement to create community consensus, a willingness of federal agencies to cooperate in implementing solutions, an intensive effort to harmonize state policies and resources, and ultimately national legislation.  

“The vision for modernization must be to provide timely diagnosis for a wide range of conditions in order to bring the benefits of safe and effective treatments to babies more quickly,” says Don Bailey, a newborn screening expert and Distinguished Fellow at RTI.  

“Now is the time for concerted and organized action to address the complex challenges that NBS programs face and help build a next-generation NBS system that delivers the benefits of safe and effective treatments to babies faster. The publication of this resource is a call to action for stakeholders to identify consensus solutions and implement policy change,” says Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement at EveryLife Foundation for Rare Diseases. 

A group of rare disease-focused organizations including the EveryLife Foundation for Rare Diseases, BioMarin Pharmaceutical Inc. (Nasdaq: BMRN), Orchard Therapeutics (Nasdaq: ORTX), Sarepta Therapeutics, Inc. (Nasdaq: SRPT), and Travere Therapeutics (Nasdaq: TVTX) supported the study and remain committed to operationalizing these policy solutions.  

Read the study here

Link to press release here.

About the EveryLife Foundation for Rare Diseases 

The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures. A disease is defined as rare when it affects fewer than 200,000 people in the United States. On average, rare disease patients must wait an average of 6.3 years after symptoms first present before receiving a proper diagnosis.  

About RTI International 

RTI International is an independent, nonprofit research institute dedicated to improving the human condition. Clients rely on us to answer questions that demand an objective and multidisciplinary approach—one that integrates expertise across the social and laboratory sciences, engineering, and international development. We believe in the promise of science, and we are inspired every day to deliver on that promise for the good of people, communities, and businesses around the world. For more information, visit


Britta Dornan
EveryLife Foundation for Rare Diseases

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