Abstract

Objective: Newborn screening (NBS) is a vital public health initiative that enables early detection of congenital disorders. Spain currently lacks a standardized national panel, leading to regional disparities in the conditions screened. Therefore, the aim of this study is to present the development and proposed implementation of the Spanish Uniform Screening Panel (SUSP), a standardized national newborn screening framework designed to harmonize screening practices across Spain.

Materials and Methods: This manuscript presents the Spanish Uniform Screening Panel (SUSP), developed through a nationwide consensus by all metabolic screening centers in Spain and Portugal. The panel is based on biomarkers currently in use and distinguishes between primary and secondary conditions. The methodology includes a review of existing biomarkers, classification criteria, and a proposal for a national advisory process.

Results: The panel comprises 85 conditions, including 41 primary and 44 secondary conditions, supported by standardized nomenclature and ORPHA codes. Diseases without current pilot data or operational biomarkers were excluded, but are discussed with a pathway for future inclusion. A roadmap is also proposed for genomic NBS integration.

Conclusions: The Spanish Uniform Screening Panel (SUSP) represents a milestone in the national newborn screening strategy. Through a collaborative consensus process involving all regional screening centers and based on real-world biomarker usage, this proposal addresses long-standing disparities. It lays the groundwork for equitable, evidence-based screening across Spain. This harmonized approach ensures consistency, facilitates national reporting and evaluation, and strengthens Spain’s capacity to adapt to future technological advances.