Expanded newborn screening using genome sequencing for early actionable conditions

JAMA

2024-10-24

(Press-News.org) About The Study: These interim findings demonstrate the feasibility of targeted interpretation of a predefined set of genes from genome sequencing in a population of different racial and ethnic groups. DNA sequencing offers an additional method to improve screening for conditions already included in newborn screening and to add those that cannot be readily screened because there is no biomarker currently detectable in dried blood spots. Additional studies are required to understand if these findings are generalizable to populations of different racial and ethnic groups and whether introduction of sequencing leads to changes in management and improved health outcomes.

Quote from corresponding author, Wendy K. Chung, MD, PhD:

“The GUARDIAN study represents a significant advancement in newborn health by demonstrating the feasibility of improving and expanding newborn screening to include hundreds of rare genetic disorders. This expansion enables earlier detection and treatment and promotes health equity.

“Notably, 72% of parents approached enrolled in the study. Among the 120 true positive results, 92% received a confirmed diagnosis for conditions not included in standard newborn screening, allowing for rapid, sometimes life-saving, treatment initiation and significantly reducing the time required for patients to receive a diagnosis.”

Contact information for Wendy K. Chung, MD, PhD: email Wendy.Chung@childrens.harvard.edu.

To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/

(doi:10.1001/jama.2024.19662)

Editor’s Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.

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