JAMA Publication by UCSF Center for Translational and Policy Research (TRANSPERS) Finds Global Use and Funding of Clinical Genomic Sequencing Expands but More Data on Implementation Are Needed

During the past five years, Next-Generation Sequencing (NGS) has transitioned from primarily research use to widespread clinical use and it is projected that more than 60 million people worldwide will have their genome sequenced in a healthcare context by 2025. However, there has not been a comprehensive assessment of global NGS implementation – the use of testing in routine care worldwide. Understanding how NGS-based clinical tests are being used and paid for is critical as we continue considering its clinical and economic benefits and addressing current and future challenges to appropriate implementation.

In a JAMA Viewpoint published today, TRANSPERS collaborators examined the growing use of NGS-based tests in clinical care. They found that many NGS tests are being used – or are expected to emerge into clinical care in the near future - across the full range of clinical applications including risk assessment, diagnosis, prognosis, and therapy selection. NGS is used in many countries including middle income countries. Some countries now provide national funding for certain NGS-based tests whereas others provide funding for selected NGS tests via both commercial and public insurance and regional governments.

However, there is a lack of comprehensive data on how these tests are being implemented into clinical care, which is critical to understanding the benefits of NGS at the population level. There is no central source of information on implementation across countries and clinical applications. As a result of these gaps, data on implementation must be compiled across diverse sources. Thus, a first step needs to be greater ability to generate, enable access to, and assess data on implementation.

Implementation is a key pillar of the translational continuum, but understanding implementation alone is insufficient as it is also essential to assess clinical and economic benefits to patients and populations. Many studies have examined the clinical utility of specific NGS-based applications; however not all NGS tests with demonstrated clinical utility are fully implemented to achieve population health impact. Conversely, some NGS-based tests without fully established clinical utility may still be implemented. Thus, another key next step is to integrate information on both clinical utility and implementation to assess the overall impact of NGS and determine how NGS can best truly benefit patients and populations around the world.

The “translational continuum” for genomic medicine was first described by the Office of Public Health Genomics at the Centers for Disease Control and Prevention. The continuum describes the process for genomic tests as they move from discovery (T1) to evaluation of validity and clinical utility (T2) and into health practice and implementation (T3) and ultimately into population health impact (T4).

This study was led by TRANSPERS founding director Kathryn A. Phillips Ph.D. with collaborators Michael Douglas M.S. (UCSF) and Deborah Marshall Ph.D. (University of Calgary), as part of the Global Economics and Evaluation of Clinical Genomics Sequencing (GEECS) Working Group. TRANSPERS is located in the Department of Clinical Pharmacy at UCSF and is affiliated with the Philip R Lee Institute for Health Policy Studies.