Value In Health September issue addresses challenges and solutions for assessment of the value of clinical genomic testing

Special theme section features findings from Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS)

Over the last decade, genetic testing to inform precision medicine has evolved from the use of single-gene tests to more complex tests that measure multiple genes, the entire exome (coding region of the genome) or the entire genome using next-generation sequencing (NGS) technology. As the cost of NGS technology has decreased and NGS-based tests are increasingly being incorporated into clinical patient care, health insurance companies, health technology assessment organizations, and governments must assess the clinical and economic value of NGS-based tests. In the last few years, there has been an emerging consensus that conventional frameworks used by payers to assess the value of new drugs are not well suited for evaluating the value of genomic testing.

This special theme section of the September 2018 issue of Value in Health specifically focuses on assessing the value of NGS-based clinical testing. While it’s critical to assess the value of NGS, there are many methodological challenges to doing so. This series of expert articles push the envelope by not only highlighting the challenges, but by suggesting innovative solutions to move the value assessment process forward for precision medicine. The papers incorporate a wide range of perspectives and topics and use both systematic reviews and case studies – but they all focus on the overarching issue of proposing new methodologies to assess the value of NGS-based technologies in clinical care. The proposals included are not intended only for health economic researchers, but also to other stakeholders including health technology assessment organizations, payers, clinical researchers, and the biotechnology and pharmaceutical industries.

  • Key Takeaways from this special theme section articles are: There are several important methodological challenges to measuring the value and economic impact of NGS in clinical care that should be prioritized for research and innovative solutions. (Phillips et al)
  • Real-world performance-based risk sharing arrangements (PBRSAs), where reimbursement for certain genomic testing is contingent on meeting specific real-world clinical or economic metrics—represent the most promising innovative framework for addressing the important features of NGS testing. (Trosman et al)
  • “Big data” from population-level genomics initiatives (e.g., the UK 100,000 Genomes Project) could be a rich source of evidence for cost effectiveness analyses; however, practical and methodological challenges should be addressed early in the design of these initiatives through collaboration with health economists. (Wordsworth et al)
  • Best practices for ongoing and future economic analyses of genomics are emerging, including addressing the challenges of developing an appropriate comparator, capturing appropriate downstream costs, and documenting impact on health-related quality of life. (Christensen et al)
  • Existing health technology assessment (HTA) methods do not fully capture the potential value of NGS; future research and value assessment should include both health and non-health outcomes. (Regier et al)

About Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS)

The Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS) ​ is made up of an esteemed group of health economists and policy researchers from major institutions across the globe who have been at the forefront of the incorporation of genomics into clinical care. The working group is chaired by Kathryn A. Phillips, PhD, Director of the Center for Translational and Policy Research on Personalized Medicine (TRANSPERS) at UCSF. Members include:

  • James Buchanan, DPhil, University of Oxford, Oxford, United Kingdom
  • Kurt Christensen, PhD, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA
  • Patricia Deverka, MD, MS, American Institutes for Research, Chapel Hill, NC, USA
  • Deborah Marshall, PhD, University of Calgary, Calgary, Alberta, Canada
  • Kathryn A. Phillips, PhD, University of California San Francisco, San Francisco, CA, USA
  • Dean Regier, PhD, University of British Columbia, Vancouver, British Columbia, Canada
  • Sarah Wordsworth, PhD, University of Oxford, Oxford, United Kingdom

For more information or contact Kathryn Phillips.


TRANSPERS is located in the Department of Clinical Pharmacy at UCSF and affiliated with the Philip R. Lee Institute for Health Policy Studies and Helen Diller Family Comprehensive Cancer Center. For more information or contact [email protected].