Paving the path for implementation of clinical genomic sequencing globally - Are we ready?

Date: April 24, 2024
Journal: Health Affairs Scholar
Citation: Deborah A Marshall, Nicolle Hua, James Buchanan, Kurt D Christensen, Geert W J Frederix, Ilias Goranitis, Maarten J IJzerman, Jeroen P Jansen, Tara A Lavelle, Dean A Regier, Hadley S Smith, Wendy J Ungar, Deirdre Weymann, Sarah Wordsworth, Kathryn A Phillips, Paving the path for implementation of clinical genomic sequencing globally - Are we ready?, Health Affairs Scholar, 2024;, qxae053,


Despite the emerging evidence in recent years, successful implementation of clinical genomic sequencing (CGS) remains limited and is challenged by a range of barriers. These include a lack of standardized practices, limited economic assessments for specific indications, limited meaningful patient engagement in health policy decision-making, and the associated costs and resource demand for implementation. Although CGS is gradually becoming more available and accessible worldwide, large variations and disparities remain, and reflections on the lessons learned for successful implementation are sparse. In this commentary, members of the Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS) describe the global landscape of CGS in the context of health economics and policy and propose evidence-based solutions to address existing and future barriers to CGS implementation. The topics discussed are reflected as two overarching themes: (1) system readiness for CGS and (2) evidence, assessments, and approval processes. These themes highlight the need for health economics, public health, and infrastructure and operational considerations; a robust patient- and family-centered evidence base on CGS outcomes; and a comprehensive, collaborative, interdisciplinary approach.

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