Newborn screening (NBS) is a critical public health initiative in the U.S., designed to detect serious congenital conditions within the first days of life. Each year, approximately 3.6 million infants are screened using dried blood spot samples collected 24–48 hours after birth. These are analyzed using biochemical and molecular methods to identify high-risk cases in need of further diagnostic testing.
However, as sequencing technologies become more widespread, public health programs face mounting challenges in quickly and accurately interpreting variants. Manual curation - often involving extensive literature review - can lead to delays that threaten the timeliness of newborn diagnoses.
To meet these demands, the Centers for Disease Control and Prevention (CDC) launched ED3N (Enhancing Data-driven Disease Detection in Newborns), a nationwide platform that streamlines genomic analysis and introduces automation into key steps of the screening workflow.
“One of the things that we're always trying to do within newborn screening is improve our performance metrics, so reducing false positive, and false negative results. This is where we're seeing much more utility and application of molecular technologies in this space.”
- Amy Gaviglio, Genetic counselor and founder of Connetics Consulting
The Centers for Disease Control and Prevention (CDC) is the United States’ leading public health authority, dedicated to protecting health and advancing medical innovation through surveillance, prevention, and response. In newborn screening, the CDC supports state programs in detecting life-threatening genetic conditions early - when intervention can be most effective.
Through forward-looking initiatives like ED3N, the CDC is modernizing public health genomics and rare disease detection with a focus on automation, speed, and scalability.
To keep pace with the increasing use of sequencing in newborn screening, the CDC is modernizing variant interpretation across state-level public health programs. By targeting inefficiencies related to turnaround time, data consistency, and manual review, ED3N provides a centralized infrastructure for faster, more reliable results.
With the integration of Genomenon’s Indexed Data API, powered by the Mastermind® Genomic Intelligence Platform, newborn screening programs now have real-time access to expertly curated variant evidence - enabling them to identify rare genetic conditions more efficiently and equitably, and support timely care for millions of infants.
CDC's Vision:
Facing growing demands and complexity in genomic screening, the CDC set out to create a unified, scalable system to support variant interpretation nationwide.
Their vision was to:
Challenges:
Solution:
Results:
“Going through the literature, in particular, was one of the biggest bottlenecks to actually doing efficient implementation and continuing to meet the timeliness goals that are set by the federal government. That really led us to wanting to integrate Genomenon’s Indexed Data into our own solution for the benefit of our programs. It’s been a great integration. Our programs love this."
- Amy Gaviglio, Genetic counselor and founder of Connetics Consulting
About Genomenon
Genomenon is a leading genomic intelligence company dedicated to improving the quality of patients’ lives by uncovering the genomic drivers of genetic disease and cancer. Blending the power of AI with genomic expertise, Genomenon simplifies complex genetic data into actionable insights for patient diagnosis and precision medicine development. The company’s solutions include software, data, and curation and consulting services.
About Mastermind
Mastermind is the world's most comprehensive genomic intelligence platform, designed to transform variant interpretation with unmatched depth and efficiency. By indexing over 10 million full-text scientific articles and 3.5 million supplemental datasets, Mastermind connects users to curated evidence on more than 27 million variants and 19,000 genes. Whether you're analyzing hereditary cancer genes, ACMG secondary findings, or expansive cardiac panels, Mastermind accelerates throughput, reduces turnaround time, and increases diagnostic yield through powerful genomic language processing and expert curation.
We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.
