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<p>Realizing the promise of precision medicine will require the highest standards of accuracy in genome sequencing and analysis. Here we describe challenges and opportunities for the field through the lens of genome data quality. We present recommendations in the context of specific areas of application for genomic sequencing in which isolated standards have arisen: germline sequencing, tumour sequencing, cell-free DNA testing, and sequencing for quality control in genetic therapy. Despite these distinct clinical contexts, technical challenges are often similar; for example, accurately detecting low-frequency genetic variants in tumour sequencing or gene-edited cells. We call for increased synchronization among these communities to establish new medical genome standards that promote confidence in genomic diagnostics and genetic therapies in a time of rapid technology-driven change. We suggest practical approaches for implementing these genome standards across contexts, and identify key areas that require further development.</p>

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Harmonizing standards and resources for the medical genome

  • 期刊论文

  • 发表日期：

    2026年7月1日

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  • Euan A. Ashley,
  • Ash A. Alizadeh,
  • Hanae Armitage,
  • Ami S. Bhatt,
  • Yair Blumenfeld,
  • Andrew Carroll,
  • R. Martin Chavez,
  • Petros Giannikopoulos,
  • Megan E. Grove,
  • Meghan C. Halley,
  • Kiran Khush,
  • Niall J. Lennon,
  • Samantha Maragh,
  • Alexander Marson,
  • Benedict Paten,
  • Adam M. Phillippy,
  • Matthew H. Porteus,
  • Heidi L. Rehm,
  • Bradley R. Ringeisen,
  • Julia Salzman,
  • Valerie A. Schneider,
  • Fritz J. Sedlazeck,
  • Lars M. Steinmetz,
  • Fyodor D. Urnov,
  • Stacia K. Wyman,
  • Justin M. Zook,
  • Lloyd B. Minor,
  • Jennifer A. Doudna

摘要

Realizing the promise of precision medicine will require the highest standards of accuracy in genome sequencing and analysis. Here we describe challenges and opportunities for the field through the lens of genome data quality. We present recommendations in the context of specific areas of application for genomic sequencing in which isolated standards have arisen: germline sequencing, tumour sequencing, cell-free DNA testing, and sequencing for quality control in genetic therapy. Despite these distinct clinical contexts, technical challenges are often similar; for example, accurately detecting low-frequency genetic variants in tumour sequencing or gene-edited cells. We call for increased synchronization among these communities to establish new medical genome standards that promote confidence in genomic diagnostics and genetic therapies in a time of rapid technology-driven change. We suggest practical approaches for implementing these genome standards across contexts, and identify key areas that require further development.