Journal article

Clinical genomic testing: what matters to key stakeholders?

Stephanie Best, Zornitza Stark, Peta Phillips, You Wu, Janet C Long, Natalie Taylor, Jeffrey Braithwaite, John Christodoulou, Ilias Goranitis

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2020

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 w..

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Grants

Awarded by NHMRC Targeted Call for Research grant


Funding 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.