ArticleEuropean journal of human genetics : EJHG2020
Clinical genomic testing: what matters to key stakeholders?
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic review of preferences for additional findings from genomic testing.European journal of human genetics : EJHG · 2026Pooled it
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- Public Preferences and Willingness to Pay for a Multidisciplinary Colorectal and Pelvic Reconstruction Service.The patient · 2026Article
- A consensus model for implementation of genomics in Queensland Health - a Delphi study.Human genomics · 2026Article
- Cost-effectiveness of paediatric rapid genomic testing: a commentary.International journal for advancing practice · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Combining Implementation and Data Sciences to Accelerate Evidence Integration into Healthcare - ImpleMATE.F1000Research · 2025Article
- A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.Orphanet journal of rare diseases · 2024Article
- Review
- Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia.European journal of human genetics : EJHG · 2024Article
- The value of genomic testing in severe childhood speech disorders.European journal of human genetics : EJHG · 2024Article
- QALYs and rare diseases: exploring the responsiveness of SF-6D, EQ-5D-5L and AQoL-8D following genomic testing for childhood and adult-onset rare genetic conditions in Australia.Health and quality of life outcomes · 2023Article
- Determining the utility of diagnostic genomics: a conceptual framework.Human genomics · 2023Review
- Aligning intuition and theory: a novel approach to identifying the determinants of behaviours necessary to support implementation of evidence into practice.Implementation science : IS · 2023Article
- Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.Children (Basel, Switzerland) · 2023Article
- Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research.European journal of human genetics : EJHG · 2023Article
- Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.American journal of human genetics · 2023Review
- Patient and Clinician Preferences for Genetic and Genomic Testing in Non-Small Cell Lung Cancer: A Discrete Choice Experiment.Journal of personalized medicine · 2022Article
- Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment.European journal of human genetics : EJHG · 2021Article
- A dynamic systems view of clinical genomics: a rich picture of the landscape in Australia using a complexity science lens.BMC medical genomics · 2021Article
Corrections and comments
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Authors and funding
9 authors.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.