The Progress and Future of US Newborn Screening.

Area of Science:

• Genetics
• Public Health
• Medical Technology

Background:

• Newborn screening (NBS) has evolved over 60 years due to scientific advancements, advocacy, and policy.
• The rise in rare disease treatments and genomic technologies (genome and exome sequencing) necessitates NBS system expansion.
• Screening for rare genetic diseases presents challenges in defining criteria and understanding disease severity spectrums.

Purpose of the Study:

• To propose recommendations for enhancing the newborn screening system's capacity and responsiveness.
• To address the growing demands for NBS expansion driven by new treatment development and genomic technologies.
• To outline strategies for improving NBS globally, with a focus on the United States.

Main Methods:

• Analysis of factors driving NBS progress (science, advocacy, funding, policy).
• Identification of challenges in current NBS practices, particularly concerning rare genetic diseases.
• Development of recommendations for system improvement, including criteria definition, financing, infrastructure, and communication.

Main Results:

• Genomic sequencing offers new opportunities for early identification and prevention across the lifespan.
• Key challenges include defining screening targets for rare diseases and gathering population/genomic data.
• Recommendations address system financing, stakeholder engagement, national infrastructure, and inter-governmental communication.

Conclusions:

• Improving NBS requires better-defined screening criteria and robust financing mechanisms.
• Establishing a national infrastructure for quality assurance, data, IT, and communication is crucial.
• Addressing these issues is vital for enhancing NBS programs in the US and globally.