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<p>Although genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program—an observational study assessing the feasibility and clinical utility of genomic NBS in North Carolina. Recruitment was statewide through mailed letters with electronic consent. Genome sequencing with analysis of 169 high actionability genes (plus 29 optional lower actionability genes) was performed using residual NBS dried blood spots. In 8 months, 1,979 newborns were screened, with 50 (2.5%) screen positives. Negative results were returned electronically, positive results by genetic counselors. Twenty-eight results (55%) were true positives, all received anticipatory guidance, surveillance and management recommendations, and referral to specialists as appropriate. We report technical feasibility and preliminary clinical utility finding, along with interpretation and follow-up challenges that hinder public health implementation. We propose standardized terminology to facilitate cross-study comparisons and accurate characterization of genomic NBS outcomes.</p>

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Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年9月5日

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  • Heidi L. Cope,
  • Elizabeth R. Jalazo,
  • Jonathan S. Berg,
  • Jennifer A. Sullivan,
  • Katerina S. Kucera,
  • Scott M. Shone,
  • Hannah E. Frawley,
  • Angela Y. Gwaltney,
  • Ana N. Forsythe,
  • Brooke A. Migliore,
  • Becca Wright,
  • Rebecca R. Moultrie,
  • Laura V. Milko,
  • Rebekah S. Zimmerman,
  • Paul Kruszka,
  • Sharon F. Suchy,
  • Amber Begtrup,
  • Katherine G. Langley,
  • Kristin G. Monaghan,
  • Christina Kraczkowski,
  • Adam J. Guenzel,
  • Kirsty McWalter,
  • Kathleen S. Hruska,
  • Donald B. Bailey Jr,
  • Anne C. Wheeler,
  • Melissa Raspa,
  • Cynthia M. Powell,
  • Holly L. Peay

摘要

Although genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program—an observational study assessing the feasibility and clinical utility of genomic NBS in North Carolina. Recruitment was statewide through mailed letters with electronic consent. Genome sequencing with analysis of 169 high actionability genes (plus 29 optional lower actionability genes) was performed using residual NBS dried blood spots. In 8 months, 1,979 newborns were screened, with 50 (2.5%) screen positives. Negative results were returned electronically, positive results by genetic counselors. Twenty-eight results (55%) were true positives, all received anticipatory guidance, surveillance and management recommendations, and referral to specialists as appropriate. We report technical feasibility and preliminary clinical utility finding, along with interpretation and follow-up challenges that hinder public health implementation. We propose standardized terminology to facilitate cross-study comparisons and accurate characterization of genomic NBS outcomes.