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<p>Incorporating genomic sequencing into newborn screening will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The prospective BabyScreen+ cohort study screened 1,000 newborns from the state of Victoria, Australia for variants in 605 genes associated with early-onset, severe, treatable conditions using whole-genome sequencing performed on dried blood spot cards. Sixteen infants (1.6%) were identified as having high-chance results. Of these, only one was detected by standard newborn screening. Average time to genomic newborn result was 13 days. Clinical impact ranged from instituting preventative measures or surveillance to active management, including transplantation. Twenty relatives received a diagnosis following cascade testing. Median parental decisional regret was low (median 0, interquartile range 0–10); &gt;99% of participants thought genomic newborn screening should be available to all parents. Our study demonstrates the feasibility of clinically accredited genomic newborn screening, using a scalable model that is highly acceptable to parents. Future research is needed to address issues of scalability and equity.</p>

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Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年10月9日

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  • Sebastian Lunke,
  • Lilian Downie,
  • Jade Caruana,
  • Nathasha Kugenthiran,
  • Paul De Fazio,
  • Sebastian Hollizeck,
  • Sophie E. Bouffler,
  • David J. Amor,
  • Alison D. Archibald,
  • Yvonne Bombard,
  • John Christodoulou,
  • Marc Clausen,
  • Wendy Fagan,
  • Clara Gaff,
  • Ronda F. Greaves,
  • Christopher Gyngell,
  • Anaita Kanga-Parabia,
  • Nitzan Lang,
  • Crystle Lee,
  • Fiona Lynch,
  • Anthony Marty,
  • Melanie Marty,
  • Candice McGregor,
  • Jessica Riseley,
  • Simon Sadedin,
  • Katrina Scarff,
  • Michelle da Cunha Torres,
  • Erin Tutty,
  • Ching Vang,
  • Meaghan Wall,
  • Ee Ming Wong,
  • Alison Yeung,
  • Ilias Goranitis,
  • Stephanie Best,
  • Danya F. Vears,
  • Zornitza Stark

摘要

Incorporating genomic sequencing into newborn screening will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The prospective BabyScreen+ cohort study screened 1,000 newborns from the state of Victoria, Australia for variants in 605 genes associated with early-onset, severe, treatable conditions using whole-genome sequencing performed on dried blood spot cards. Sixteen infants (1.6%) were identified as having high-chance results. Of these, only one was detected by standard newborn screening. Average time to genomic newborn result was 13 days. Clinical impact ranged from instituting preventative measures or surveillance to active management, including transplantation. Twenty relatives received a diagnosis following cascade testing. Median parental decisional regret was low (median 0, interquartile range 0–10); >99% of participants thought genomic newborn screening should be available to all parents. Our study demonstrates the feasibility of clinically accredited genomic newborn screening, using a scalable model that is highly acceptable to parents. Future research is needed to address issues of scalability and equity.