Newborn screening catches disease early, but biochemistry alone has blind spots: disorders without reliable biomarkers, variants of uncertain significance, and heterogeneous presentations that slip past first-line tests. The cost is delayed diagnosis and uneven access to timely care. The path forward is modern NBS built on automated, evidence-backed interpretation pipelines that keep results fast, consistent, and comparable across programs.
Modern newborn screening, supported by standardized molecular evidence and interpretation, can:
- Broaden condition coverage beyond biochemical-only panels by including disorders with known genetic etiologies that lack reliable biomarkers.
- Shorten time to diagnosis by reducing manual evidence review and enabling earlier confirmatory testing and referrals.
- Reduce ambiguity through harmonized nomenclature and consistent, evidence-based variant classification.
- Better support families and care teams by enabling earlier care planning, therapy initiation, and access to resources - improving the chance of favorable outcomes.
In short: evidence-driven newborn screening can shift the balance from late-stage crisis care to early prevention and proactive treatment.
Genomenon’s effort: Partnering with Rady Children’s Institute for Genomic Medicine
When minutes matter, interpretation speed is the difference. In our collaboration with Rady Children’s Institute for Genomic Medicine, we supported newborn screening timelines by delivering rapid, evidence-backed variant interpretation - helping catch conditions that biochemical panels may miss and moving from raw data to a confident clinical call within the first days of life.
The focus wasn’t adding more data, but making data actionable on newborn timelines: standardized curation pipelines, prioritized gene sets aligned to NBS indications, automated evidence retrieval, and expert review to resolve pathogenicity quickly and consistently. By complementing the existing biochemistry-first infrastructure, this approach widens effective condition coverage, reduces false positives/negatives from ambiguous findings, and clarifies next steps (confirmatory testing, referrals, therapy initiation) while it still changes outcomes. The result is a tighter path from sample to decision - more infants identified earlier, fewer families in diagnostic limbo, and care teams equipped with the granular evidence they need to act fast.
(See full story: Genomenon and Rady – The Promising Future of Newborn Sequencing)
Genomenon’s effort: Supporting the CDC’s Nationwide ED3N Initiative
Beyond individual programs, scaling sequencing requires national infrastructure. That’s why the Centers for Disease Control and Prevention (CDC) launched ED3N (Enhancing Data-driven Disease Detection in Newborns) - a nationwide platform to modernize variant interpretation.
Genomenon contributed by integrating the Mastermind® Genomic Intelligence Platform into ED3N’s molecular module. This gave public health programs:
- Real-time access to expertly curated variant evidence.
- Automation that reduced manual literature review bottlenecks.
- Consistency and collaboration, allowing state programs to share variant classifications and reduce redundant work.
The results were profound: screening programs could meet strict federal timelines, improve diagnostic confidence, and ensure more equitable access to timely care
(See full story: https://www.genomenon.com/resource/automating-variant-interpretation-newborn-screening-mastermind-cdc)
A Collective Commitment to Every Newborn
The promise is clear: healthier beginnings for millions of children. Making that promise real takes collaboration across hospitals, public-health programs, and technology partners. At Genomenon, we’re proud to provide the genomic intelligence that transforms raw evidence into actionable clinical insight.
Whether it’s working with leading medical centers like Rady or supporting national initiatives like the CDC’s ED3N, our mission is the same: to ensure every newborn gets the best possible start in life.
