OBJECTIVES: This is a novel study of the global “landscape” of implementation of clinical sequencing (next-generation sequencing “NGS”). NGS is being adopted in several clinical areas, but adoption varies across countries and clinical conditions. We summarize current and projected clinical implementation across countries using structured reviews and interviews, and explore why these changes are taking place and future developments. We focus on the emerging use of exome and genome sequencing and three current uses of NGS: tumor sequencing, testing for rare and undiagnosed diseases (RUGD), and non-invasive prenatal testing (NIPT). We examine three topics:

- Availability, utilization, and estimated expenditures for NGS across countries and regions

- Labs offering NGS testing and illustrative test prices

- Payer coverage of NGS tests and illustrative reimbursement rates.

This study was conducted by the Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS). METHODS: We synthesize information from peer-reviewed publications, the gray literature, and interviews. We present several country-level case studies illustrating key issues. RESULTS: There is wide variability in NGS adoption across countries, with some testing now standard-of-care (e.g., NIPT) while others are being implemented in selected countries (e.g., RUGD, tumor sequencing). NGS testing is used across a wider range of countries than is previously known, including several European countries beyond the U.K. Although NGS testing is also being implemented in several Asian countries, there are few published, English-language studies of NGS utilization and coverage policies in those countries (other than Australia). Payer coverage and payment approaches vary widely across countries. CONCLUSIONS: NGS testing is rapidly being adopted and implemented in many countries, but there is wide variation in availability, implementation, and payment. There is a particular need for more published research on NGS testing in East/South East Asian countries.