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. 2026 Jan 16.
doi: 10.1186/s12920-025-02306-1. Online ahead of print.

North Carolina primary care provider perspectives on expanded genomic screening in children

Elizabeth Kathleen Branch  1 , Megan C Roberts  2 , Margaret Waltz  3 , Neal A deJong  4 , Laura V Milko  5 , Ann Katherine Foreman  5 , Kimberly Foss  5 , Stefanija Giric  5 , Marcella H Boynton  6   7 , Jonathan S Berg  5 , Samantha Schilling  8
Affiliations
Free article

North Carolina primary care provider perspectives on expanded genomic screening in children

Elizabeth Kathleen Branch et al. BMC Med Genomics. .
Free article
No abstract available

Keywords: Genomic screening; Implementation science; Pediatric primary care.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study protocol was developed in accordance with the Declaration of Helsinki and reviewed by the Institutional Review Board of the Office of Human Research Ethics of the University of North Carolina and was determined to be exempt from Human Subjects Research Review. Informed consent to participate has been obtained from all the participants. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests.

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References

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    1. Berg JS, Agrawal PB, Bailey DB, et al. Newborn sequencing in genomic medicine and public health. Pediatrics Feb. 2017;139(2). https://doi.org/10.1542/peds.2016-2252.
    1. la Marca G, Carling RS, Moat SJ, et al. Current state and innovations in newborn screening: continuing to do good and avoid harm. Int J Neonatal Screen Mar. 2023;17(1). https://doi.org/10.3390/ijns9010015.
    1. Wildin RS, Gerrard DL, Leonard DGB. Real-World results from combined screening for Monogenic genomic health risks and reproductive risks in 300 adults. J Pers Med Nov. 2022;28(12). https://doi.org/10.3390/jpm12121962.
    1. Savatt JM, Kelly MA, Sturm AC, et al. Genomic screening at a single health system. JAMA Netw Open. 2025;8(3):e250917–250917.

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