In September 2020, the EveryLife Foundation announced a joint effort to evaluate the strengths and weaknesses of the current newborn screening system in America, assess the readiness of the system to keep pace with medical innovation, and identify potential solutions that meet the needs of people with rare diseases. In December 2021, the study was published in the JAMA Network Open.
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.
Supporters
Thank you to the Newborn Screening Modernization Study Supporters
