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October 26, 2020

Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation

Author Affiliations
  • 1Center for Translational and Policy Research on Personalized Medicine (TRANSPERS), Department of Clinical Pharmacy, University of California, San Francisco
  • 2Philip R. Lee Institute for Health Policy Studies, University of California, San Francisco
  • 3Cumming School of Medicine, Department of Community Health Sciences, University of Calgary, Calgary, Alberta, Canada
  • 4O’Brien Institute for Public Health, University of Calgary, Calgary, Alberta, Canada
JAMA. 2020;324(20):2029-2030. doi:10.1001/jama.2020.19933

During the past 5 years, next-generation sequencing (NGS) has transitioned from research to clinical use.1 At least 14 countries have created initiatives to sequence large populations (eg, All of Us, Genomics England), and it is projected that more than 60 million people worldwide will have their genome sequenced by 2025.1 However, there has not been an assessment of global NGS implementation (defined here as the use of testing in routine clinical care as measured by clinical applications, utilization, and coverage/funding/reimbursement). Implementation is a key pillar in the translational continuum of discovery, utility, implementation, and population health impact.2 Understanding how NGS is being used and paid for is critical for determining its clinical and economic benefits and addressing current and future challenges to appropriate implementation.

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