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<p>Whole genome sequencing (WGS) presents an opportunity to identify asymptomatic individuals at increased risk for disease. We set up a model pathway to assess the use of WGS combined with a medical assessment in primary care. We recruited 104 participants (102 unrelated) from a private general practice for a medical assessment, WGS and panel testing. WGS analysed 566 clinically actionable genes, including moderate to high-risk monogenic traits, recessive traits and pharmaco-genes. Polygenic risk scores (PRS) were calculated for 4 cancers. Twenty-three individuals (22%) had an actionable germline variant in cancer, cardiac, lipid or thromboembolic genes. Ten of these (43%) had pathogenic variants in cancer predisposition genes, 60 (58%) participants harboured recessive genetic alterations and 43 (41%) had pharmacogenetic variants. Our findings show WGS in primary care identified actionable variants in 22% of individuals resulting in a change in clinical management. Pharmacogenomics may alter prescribing in a further 41%.</p>

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A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月4日

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  • Ann-Britt Jones,
  • Gabriella Pichert,
  • Lucy Side,
  • Tessa Homfray,
  • Terri McVeigh,
  • Sophie Hicks,
  • Catrina Williams,
  • Denis Pellerin,
  • Vincenzo Cirigliano,
  • Miriam Leon,
  • Bibiana Palao,
  • Luis Izquierdo,
  • Elena Ordonez,
  • Elena Gongora,
  • Catriona Davies,
  • Jeremiah Healy,
  • Robert Thomas,
  • Priya Narayanan,
  • Ghada Al Shakarchi,
  • Zahir Amin,
  • Tokhir Dadaev,
  • Elizabeth Bancroft,
  • Zsofia Kote-Jarai,
  • Rosalind Eeles,
  • Michael Sandberg

摘要

Whole genome sequencing (WGS) presents an opportunity to identify asymptomatic individuals at increased risk for disease. We set up a model pathway to assess the use of WGS combined with a medical assessment in primary care. We recruited 104 participants (102 unrelated) from a private general practice for a medical assessment, WGS and panel testing. WGS analysed 566 clinically actionable genes, including moderate to high-risk monogenic traits, recessive traits and pharmaco-genes. Polygenic risk scores (PRS) were calculated for 4 cancers. Twenty-three individuals (22%) had an actionable germline variant in cancer, cardiac, lipid or thromboembolic genes. Ten of these (43%) had pathogenic variants in cancer predisposition genes, 60 (58%) participants harboured recessive genetic alterations and 43 (41%) had pharmacogenetic variants. Our findings show WGS in primary care identified actionable variants in 22% of individuals resulting in a change in clinical management. Pharmacogenomics may alter prescribing in a further 41%.