NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

Abstract

Rapid advances in the screening, diagnosis, and treatment of genetic disorders have increased the number of conditions that can be detected through universal newborn screening (NBS). However, the addition of conditions to the Recommended Uniform Screening Panel (RUSP) and the implementation of nationwide screening has been a slow process taking several years to accomplish for individual conditions. Here, we describe web-based tools and resources developed and implemented by the newborn screening translational research network (NBSTRN) to advance newborn screening research and support NBS stakeholders worldwide. The NBSTRN’s tools include the Longitudinal Pediatric Data Resource (LPDR), the NBS Condition Resource (NBS-CR), the NBS Virtual Repository (NBS-VR), and the Ethical, Legal, and Social Issues (ELSI) Advantage. Research programs, including the Inborn Errors of Metabolism Information System (IBEM-IS), BabySeq, EarlyCheck, and Family Narratives Use Cases, have utilized NBSTRN’s tools and, in turn, contributed research data to further expand and refine these resources. Additionally, we discuss ongoing tool development to facilitate the expansion of genetic disease screening in increasingly diverse populations. In conclusion, NBSTRN’s tools and resources provide a trusted platform to enable NBS stakeholders to advance NBS research and improve clinical care for patients and their families.

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening

“…The refined list of CDEs was provided to clinicians through the Research Electronic Data Capture (REDCap ® ) web application. REDCap ® is widely used by academic, public health, clinical, and research teams to collect health information [ 22 , 23 , 24 , 25 , 26 , 27 ]. Clinicians provided an initial user testing of the tool, and feedback from this testing phase was collected.…”

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach

“…Research indicates that the ongoing management of persons identified through newborn screening, along with the continuous collection of health information, are critical foundations for an effective newborn screening system in clinical settings. The Newborn Screening Translational Research Network (NBSTRN) has established a consensus-driven approach involving clinical care specialists to produce, maintain, and enhance sets of questions and answers grouped into common data elements (CDEs) [ 202 ]. This endeavor led to the identification of key data components for the long-term follow-up (LTFU) initiatives carried out by state NBS programs.…”

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges

“…Low [11] High [12] Relative public acceptability High [13] Mixed [14][15][16] Opportunities DBS 3 for retrospective epidemiological studies [17] Building on existing NBS workflows [18][19][20] Closer to phenotype [21,22] Ability to screen multiple conditions at once [23] Possibility of new biomarker discovery [24,25] Applicable to any condition type as a single test [26][27][28][29] Up-front molecular diagnosis [30][31][32] Lifetime re-use of data (WGS) [31,33] Enabling research into genedisease associations, treatment developments, population variation, and pharmacogenetic variation [31,[33][34][35][36] Challenges Feature characterization and data interpretation [37,38] May not be suitable for all condition types [23] Custom validation for each targeted condition [39][40][41] Need for sufficiently large validation cohorts [42] Consensus of which genes/variants to report [28,29,43] Possibility of identifying adultonset conditions/variants [44][45]…”