Global Perspectives on Implementing Clinical Genomic Sequencing Equitably, Effectively and Efficiently

The successful implementation of clinical genomic sequencing (CGS) is facing several barriers, even when the supporting evidence base is robust. These include the lack of standardization around managing patient data, limited assessments on cost-effectiveness for specific indications, limited meaningful patient engagement in health policy decision-making, and the associated expenditures and needs for implementation of CGS. International efforts to evaluate and improve CGS accessibility are further complicated by the variability of health systems and funding capacities across countries. Although CGS is increasingly available across the globe, including middle-income nations, comparative studies remain a challenge and reflections on the lessons learned for successful implementation are sparse. It is now time to proactively address current barriers with evidence-based solutions and to anticipate and prepare for challenges that are likely to emerge over the next decade.
The objective of this panel is to provide global and diverse perspectives on implementing CGS around the world in an equitable, effective, and efficient manner. Our findings are drawn from a project being conducted by the Global Economics and Evaluation of Clinical Sequencing Working Group (GEECS). GEECS was founded in 2017 to conduct evidence-based research to improve approaches for assessing the value and adoption of new genomic technologies and consists of researchers actively conducting research on a range of topics on genomic medicine. It includes members from the US, Canada, the UK, the Netherlands, and Australia, and expanding into Asia Pacific. Panelists represent a range of disciplines and perspectives, including bioethics, health economics, patient-reported outcomes, policy analysis, simulation modeling, and psychosociology and stated preferences methods.

Authors: Deborah A. Marshall, The University of Calgary; Kathryn Phillips, University of California, San Francisco; Kurt Christensen, Harvard Medical School and Harvard Pilgrim Health Care Institute; Wendy J. Ungar, The Hospital for Sick Children Research Institute; James Buchanan, Queen Mary University of London