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Article • September 04, 2026

Advancing Newborn Screening Through Earlier Access to Diagnostic Testing

USCA

Newborn screening is one of the most effective public health tools available today, helping identify serious conditions early so care can begin as soon as possible. However, current newborn screening panels remain limited in scope, meaning many rare diseases often go undetected at birth. Improving access to advanced diagnostic testing can help families get answers sooner and support more timely care decisions.

Around 80% of rare diseases are genetic in origin and may not be detected through standard newborn screening. For families, that can mean a long diagnostic journey marked by uncertainty, multiple specialist visits and delays in appropriate care. In some cases, patients may wait more than five years for an accurate diagnosis, with the potential for symptoms to progress and opportunities for earlier intervention may be missed.

Improving the Path to Diagnosis

Advanced diagnostic tools, including rapid whole genome sequencing and, along with initiatives like the BeginNGS® (Begin Newborn Genome Sequencing) program, are helping change what is possible for infants with suspected genetic conditions. These approaches can provide results more quickly than traditional testing pathways, helping clinicians identify the cause of disease and inform their care decisions.

For families navigating complex and often urgent medical situations, faster answers can also reduce the need for additional testing, procedures and prolonged hospital stays, while providing clarity about next steps.1,2

Expanding Access to Diagnostic Testing

Access to advanced diagnostic testing can vary significantly depending on where a patient lives, where they receive care and whether the right expertise is available. Encouragingly, many states are expanding access to diagnostic tests under their Medicaid programs, helping more families benefit from timely, accurate diagnosis.

A more connected diagnostic ecosystem—including expanded newborn screening programs and broader access to genomic testing and genetic counselors, and clearer pathways to appropriate care—can help shorten the diagnostic journey for infants and children with rare diseases.

Continuing to Support Rare Disease Families

For people living with rare diseases, an accurate diagnosis can be a critical step toward appropriate treatment, symptom management, care coordination and potential participation in clinical research.

Building on the success of newborn screening means continuing to strengthen the systems that help families get answers sooner. By improving access to advanced diagnostic testing and supporting early, coordinated care, the healthcare community can help reduce uncertainty and improve the path to care for infants and families affected by rare diseases.

References

  1. Nicklaus Children’s Hospital. Advanced Genomics for Critically Ill Children: Project Baby Manatee. Published June 2020. Accessed August 27, 2026. https://www.nicklauschildrens.org/NCH/media/docs/pdf/research/Final-report-State-Appropriations-NCH-PMI.PDF
  2. Rady Children’s Hospital–San Diego. Project Baby Bear. Published June 2020. Accessed August 27, 2026. https://radygenomics.org/wp-content/uploads/2021/04/PBB-Final-Report_07.14.20.pdf

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