Determining the value of genomics in healthcare

As genomic sequencing transitions into mainstream healthcare, critically appraising its value is key to informing evidence-based policy, practice and implementation strategies. Assessing the value of genomics is challenging, as traditional evaluation methods and frameworks do not capture many of the outcomes of genomics. This includes the personal value that genomic information provides individuals and family members, and the potential to reuse sequencing data to improve clinical care and drive research. Evaluation is hampered by lack of standardized outcome measures, small sample sizes, and uncertainties arising from the evolving nature of the technology, its applications and associated costs. Complex health system factors further influence real-world utilization and the value of genomic technologies and services within resource-constrained settings. In this Review, we discuss the need for robust yet agile approaches to evaluating genomic technologies that are dynamically informed by real-world data, and we provide examples of emerging methods and best practices. We emphasize the need for a whole-of-system approach and the need to further advance evaluation and implementation methods, to support health systems to sustainably and equitably integrate genomics into clinical care.