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<p>Population genomic screening enables the identification of individuals at high risk of medically actionable conditions before disease onset, yet real-world feasibility studies are lacking. Informed by prior cost-effectiveness modelling, we conducted a prospective nationwide pilot targeting young adults in Australia (aged 18–40 years), offering genomic screening for ten genes linked to hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolaemia. Of 30,017 registrants, 18,573 were invited and 10,263 completed genomic screening (median age 31.9 years, 45.5% men, 30.0% culturally or linguistically diverse). Here we detected pathogenic or likely pathogenic variants in 202 (2.0%). Of the 189 referred for clinical follow-up, 97.9% accepted and 87.3% attended appointments. Notably, 74.5% of attendees were ineligible for government-funded criteria-based genomic testing. Our findings demonstrate the feasibility of adult population genomic screening, including high public engagement, clinical uptake and identification of individuals ineligible for current criteria, supporting the further development of adult population genomic screening in Australia.</p>

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Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot

  • 期刊论文

  • 发表日期：

    2026年1月15日

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  • Paul Lacaze,
  • Jane Tiller,
  • Adam Brotchie,
  • Tu Nguyen-Dumont,
  • Jason Steen,
  • Dan Belluoccio,
  • Mary-Anne Young,
  • Amanda M. Willis,
  • Lucas A. Mitchell,
  • Bronwyn Terrill,
  • Kristen J. Nowak,
  • Belinda Burns,
  • Ari E. Horton,
  • Stephen J. Nicholls,
  • Zanfina Ademi,
  • Robert C. Green,
  • Ranjit Manchanda,
  • Bryony A. Thompson,
  • David Thomas,
  • Roger L. Milne,
  • Fiona Bruinsma,
  • Martin B. Delatycki,
  • Jing Pang,
  • Gerald F. Watts,
  • Finlay Macrae,
  • Nicola Poplawski,
  • Judy Kirk,
  • Kathy Tucker,
  • Lesley Andrews,
  • Mathew Wallis,
  • Rachel Susman,
  • Nicholas Pachter,
  • David Sullivan,
  • Abiramy Ragunathan,
  • Paul James,
  • John Zalcberg,
  • John J. McNeil,
  • Melissa C. Southey,
  • Ingrid Winship

摘要

Population genomic screening enables the identification of individuals at high risk of medically actionable conditions before disease onset, yet real-world feasibility studies are lacking. Informed by prior cost-effectiveness modelling, we conducted a prospective nationwide pilot targeting young adults in Australia (aged 18–40 years), offering genomic screening for ten genes linked to hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolaemia. Of 30,017 registrants, 18,573 were invited and 10,263 completed genomic screening (median age 31.9 years, 45.5% men, 30.0% culturally or linguistically diverse). Here we detected pathogenic or likely pathogenic variants in 202 (2.0%). Of the 189 referred for clinical follow-up, 97.9% accepted and 87.3% attended appointments. Notably, 74.5% of attendees were ineligible for government-funded criteria-based genomic testing. Our findings demonstrate the feasibility of adult population genomic screening, including high public engagement, clinical uptake and identification of individuals ineligible for current criteria, supporting the further development of adult population genomic screening in Australia.