USADiagnosis and screening
Newborn genome screening in New York: 3.7% of the first 4,000 babies screened positive
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In New York City, USA, babies are screened with genome sequencing in addition to the heel-prick blood test. The first results of this study, called GUARDIAN, were published in the journal JAMA. Of the families, 72% agreed to take part, and 4,000 babies were screened. The screening looked for 156 diseases that start early and have a treatment. The result was positive in 3.7% of babies; these included diseases that routine screening does not look for.
What does it mean for patients and families?
This is a research study; genome screening is not yet routine practice. A screening result alone is not a diagnosis; it is confirmed with further testing.
Source
PubMed (JAMA): Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Scientific paper: Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA, 2025. DOI: 10.1001/jama.2024.19662 · PubMed 39446378
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.