Abstract
Beyond a narrow focus on cost and outcomes, robust evidence of what is valued in genomic medicine is scarce. We gathered views on value from key stakeholders (clinical genomic staff, operational genomic staff and community representatives) in relation to three testing contexts (General Healthcare, Acute Care and Neurodevelopmental Conditions). We conducted an iterative focus group in three stages over a week using a multiphase mixed methods study, i.e. quantitative ratings and qualitative discussion. For each testing context, the characteristics of genomic testing were generated and ranked by the group using a co-productive approach. Up to 17 characteristics were identified in one scenario with several characteristics featuring in all three testing contexts. The likelihood of getting an answer was consistently reported as most highly valued, followed by the potential for the test to impact on clinical management (or wellbeing/health for Neurodevelopmental Conditions). Risk of discrimination did not feature highly across the different settings (and not at all in Acute Care). While cost was an issue in the general health setting, it was one of the least-valued characteristics in the other two testing contexts. In conclusion, co-producing an understanding of what is valued in different testing contexts, and identifying the areas of differences or commonalities, is important to maximise value provision and inform future policy to ensure that clinical genomic services meet the needs of the community and service providers.
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Acknowledgements
We would like to thank all the focus group participants, in particular the representatives from Genetic Support Network Victoria, Genetic Epilepsy Team Australia (GETA), Leukodystrophy Australia, Syndromes Without Names (SWAN) Australia and Usher Kids Australia. This research was funded by an NHMRC Targeted Call for Research grant (GNT1113531): “Preparing Australia for Genomic Medicine”. The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Programme.
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Best, S., Stark, Z., Phillips, P. et al. Clinical genomic testing: what matters to key stakeholders?. Eur J Hum Genet 28, 866–873 (2020). https://doi.org/10.1038/s41431-020-0576-1
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DOI: https://doi.org/10.1038/s41431-020-0576-1
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