Registry of Real-World Data Sources of NGS Test Implementation
Building from work undertaken in 2020 that demonstrated the need for more data on NGS test implementation, GEECS is conducting a follow-up study that focuses on facilitating concrete approaches to building the evidence base. To accomplish this, we are creating a registry of real-world data (RWD) sources used in published studies of NGS test implementation. The registry will track studies by research objective, clinical focus, data source, and limitations. Results will be aggregated by data source in order to summarize how RWD data sources are being used, limitations, and gaps to be addressed. The registry will be accessible for use by GEECS members and affiliates for implementation studies
Availability and Utilization of Clinical Genomic Sequencing globally
Next-generation clinical genomic sequencing (NGS) has generated widespread interest and is being adopted in several clinical areas, but there is often confusion about what these tests are and how they are used worldwide. The aim of this study was to provide a global landscape of the implementation of clinical genomic sequencing (next-generation sequencing “NGS”). We delved into three key current uses of NGS: tumor sequencing (NGTS), testing for suspected genetic diseases (SGD) including rare and undiagnosed conditions, and non-invasive prenatal testing (NIPT). We summarized current and projected clinical implementation across countries by describing uses of NGS that are already well-established and then addressed the following topics using a structured review and three case studies from Canada, UK, and US:
Availability and utilization for NGS tests across countries and regions
Payer coverage of NGS tests and illustrative test prices and reimbursement rates
We concluded with a discussion of future developments and policy implications. This project resulted in two papers that meet the need for a broad update for a general clinical and policy audience on a critically important topic.
Theme Section - Methods for Moving Evaluation of Precision Medicine into Practice and Policy - Value in Health
This project yielded a themed set of papers that examined methods for moving the evaluation of precision medicine, particularly NGS tests, into practice and policy. In this set of papers, we moved beyond the identification of challenges to address how these challenges can be overcome. The findings help to facilitate high quality research on the economic value of NGS and enable patients, providers, and decision-makers to better assess the value and trade-offs of these new technologies.
Theme Section - Assessing the Value of Next Generation Sequencing - Value in Health
It is critical to assess the value of new genomic tests that measure multiple rather than single genes, often using next generation sequencing (NGS) technologies. However, there are many methodological challenges to doing so. Several papers have described many of these challenges, but there had not been a systematic review of these challenges, how prior and ongoing studies have addressed them, and possible concrete solutions. This theme section added to the literature by (1) going beyond just identifying challenges to identifying potential solutions, and (2) using systematic and empirical approaches based on structured reviews and empirical data sources. The findings help to facilitate high quality research on economic value of NGS and enable patients, providers, and decision-makers to better assess the value and trade-offs of these new technologies. This project resulted in an introductory paper and four research publications.
Theme Issue - Precision Medicine - Health Affairs
Emerging innovations point to the potential for a new age in healthcare–one of personalized medicine that can improve patient health outcomes and reduce health care costs to sustainable levels, while eliminating many health disparities. However, changes in regulatory frameworks, pricing models and doctor incentive schemes will be needed to make this new paradigm of care possible. As the nation's leading health policy journal for more than thirty years, Health Affair’s knows that underpinning this effort is the need for more robust data on what produces health, the effectiveness of interventions that work to produce health, timely outcomes data, and measures that capture population health and progress toward those goals. With this theme Issue, Health Affairs sought to align with the Culture of Health by surfacing actionable data and innovations in precision medicine, with a special focus on public health and health equity, identifying best practices, informing public and private sector policy makers and community leaders about early learnings that will impact decision making, and advancing rapid cycle innovation with the potential to benefit the population. For GEECS, this project resulted in an introductory paper and one research publication addressing current and future genetic test availability and spending.
Theme Section - Value to Decision Makers of Evaluations of Personalized / Precision Medicine: Applications to Other Emerging Technologies - Value in Health
The world has entered the “Information Age” for health care. In this world, everything is connected and the integration of “Big Data” – characterized by high velocity, volume, and variety – is increasingly important. This Information Age is characterized by new technologies that promise more, better, and faster information. Yet this growth in technologies must be integrated into a health care system that is undergoing fundamental change. The Information Age offers many opportunities for pharmacoeconomics and outcomes research, but also many challenges. This themed section offers insights into these trends and their implications. Each of the publications in the theme section “pushed the envelope” by addressing new challenges and offering new insights. The four papers include GEECS members and incorporate a wide range of perspectives – patients, providers, health care systems, society – but they all focus on the overarching issue of how to appropriately consider and assess the value of new technologies.