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Genome Sequencing Feasible for Newborn Screening

Medically reviewed by Carmen Pope, BPharm. Last updated on Oct 29, 2024.

By Lori Solomon HealthDay Reporter

TUESDAY, Oct. 29, 2024 -- Genome sequencing of newborns is both feasible and acceptable for parents of a diverse newborn population, according to a study published online Oct. 24 in the Journal of the American Medical Association.

Alban Ziegler, M.D., from the Columbia University Irving Medical Center in New York City, and colleagues reported interim results of acceptability, feasibility, and outcomes of an ongoing genomic newborn screening (NBS) study in a diverse population within the context of the New York State Department of Health Newborn Screening Program. The analysis included results of the first 4,000 newborns enrolled in six New York City hospitals between September 2022 and July 2023.

The researchers found that enrolled participants reflected a diverse group by parent-reported race (American Indian or Alaska Native, 0.5 percent; Asian, 16.5 percent; Black, 25.1 percent; Native Hawaiian or Other Pacific Islander, 0.1 percent; White, 44.7 percent; two or more races, 13.0 percent) and ethnicity (Hispanic, 44.0 percent). The majority of families consented to screening of both 156 early-onset genetic conditions with established interventions selected by the investigators and 99 neurodevelopmental disorders associated with seizures, which was optional (both, 90.6 percent; disorders with established interventions only, 9.4 percent). Completion of testing was successful for 99.6 percent of cases. The screen-positive rate, including treatable conditions that are not currently included in NBS, was 3.7 percent.

"DNA sequencing offers an additional method to improve screening for conditions already included in NBS and to add those that cannot be readily screened because there is no biomarker currently detectable in dried blood spots," the authors write.

Funding for the study was provided by Sanofi, Illumina, and GeneDx.

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Disclaimer: Statistical data in medical articles provide general trends and do not pertain to individuals. Individual factors can vary greatly. Always seek personalized medical advice for individual healthcare decisions.

© 2025 HealthDay. All rights reserved.

Posted October 2024

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