Determining the utility of diagnostic genomics: a conceptual framework

Human Genomics

Perspective

Andrew Mallett¹  Zoe Fehlberg²  Stephanie Best³  Ilias Goranitis⁴  Zornitza Stark⁴ 

[1] Australian Genomics, Murdoch Children’s Research Institute, Melbourne, VIC, Australia;College of Medicine and Dentistry, James Cook University, Douglas, QLD, Australia;Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD, Australia;Department of Renal Medicine, Townsville University Hospital, 4029, Douglas, QLD, Australia;Australian Genomics, Murdoch Children’s Research Institute, Melbourne, VIC, Australia;University of Melbourne, Melbourne, VIC, Australia;Australian Genomics, Murdoch Children’s Research Institute, Melbourne, VIC, Australia;University of Melbourne, Melbourne, VIC, Australia;Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia;Victorian Comprehensive Cancer Centre Alliance, Melbourne, VIC, Australia;Australian Genomics, Murdoch Children’s Research Institute, Melbourne, VIC, Australia;Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, VIC, Australia;University of Melbourne, Melbourne, VIC, Australia;

关键词: Diagnostic genomics;    Utility;    Framework;    Implementation;    Ontology;   

DOI  :  10.1186/s40246-023-00524-1

 received in 2023-06-09, accepted in 2023-08-09,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundDiagnostic efficacy is now well established for diagnostic genomic testing in rare disease. Assessment of overall utility is emerging as a key next step, however ambiguity in the conceptualisation and measurement of utility has impeded its assessment in a comprehensive manner. We propose a conceptual framework to approach determining the broader utility of diagnostic genomics encompassing patients, families, clinicians, health services and health systems to assist future evidence generation and funding decisions.BodyBuilding upon previous work, our framework posits that utility of diagnostic genomics consists of three dimensions: the domain or type and extent of utility (what), the relationship and perspective of utility (who), and the time horizon of utility (when). Across the description, assessment, and summation of these three proposed dimensions of utility, one could potentially triangulate a singular point of utility axes of type, relationship, and time. Collectively, the multiple different points of individual utility might be inferred to relate to a concept of aggregate utility.ConclusionThis ontological framework requires retrospective and prospective application to enable refinement and validation. Moving forward our framework, and others which have preceded it, promote a better characterisation and description of genomic utility to inform decision-making and optimise the benefits of genomic diagnostic testing.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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