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Eur J Hum Genet. 2020 Feb 5. doi: 10.1038/s41431-020-0576-1. [Epub ahead of print]

Clinical genomic testing: what matters to key stakeholders?

Author information

1
Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia. stephanie.best@mq.edu.au.
2
Australian Genomics, Murdoch Childrens Research Institute, Melbourne, VIC, Australia. stephanie.best@mq.edu.au.
3
Australian Genomics, Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
4
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
5
University of Melbourne, Melbourne, VIC, Australia.
6
Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
7
Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.
8
Cancer Council NSW, Woolloomooloo, Sydney, NSW, Australia.
9
Faculty of Health Science, University of Sydney, Sydney, Australia.
10
Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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.

PMID:
32024983
DOI:
10.1038/s41431-020-0576-1

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