ArticleEuropean journal of human genetics : EJHG2024
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- Automated reanalysis of genomic data for rare disease diagnostics at scale.Nature medicine · 2026Article
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- Automating genomic reanalysis: perspectives of people living with, or impacted by, a genetic, rare or undiagnosed condition.BMC medical ethics · 2026Article
- A consensus model for implementation of genomics in Queensland Health - a Delphi study.Human genomics · 2026Article
- Article
- Picking Up the Phone: Clinical Perspectives on Recontacting Patients and Their Families.Journal of paediatrics and child health · 2026Review
- Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.Neurology · 2026Article
- Genomics workforce views on automating genomic reanalysis: trust, equity and governance.Human genetics · 2026Article
- Defining an approach to empower clinical geneticists to do genomic reanalysis.BMC medical genomics · 2026Article
- Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.Genome medicine · 2025Article
- Cracking the code: an integrated electronic medical record approach to early diagnosis of genetic kidney disease in children with microscopic haematuria.Pediatric nephrology (Berlin, Germany) · 2025Article
- A guide to gene-disease relationships in nephrology.Nature reviews. Nephrology · 2025Review
- Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.Journal of medical genetics · 2024Article
- Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.European journal of human genetics : EJHG · 2024Article
- Novel insights into cancer predisposition genes.European journal of human genetics : EJHG · 2024Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Automating reanalysis of genomic data for undiagnosed rare disease patients presents a paradigm shift in how clinical genomics is delivered. We aimed to map the current manual and proposed automated approach to reanalysis and identify possible implementation strategies to address clinical and laboratory staff's perceived challenges to automation. Fourteen semi-structured interviews guided by a simplified process map were conducted with clinical and laboratory staff across Australia. Individual process maps were integrated into an overview of the current process, noting variation in service delivery. Participants then mapped an automated approach and were invited to discuss perceived challenges and possible supports to automation. Responses were analysed using the Consolidated Framework for Implementation Research, linking to the Expert Recommendations for Implementing Change framework to identify theory-informed implementation strategies. Process mapping demonstrates how automation streamlines processes with eleven steps reduced to seven. Although participants welcomed automation, challenges were raised at six of the steps. Strategies to overcome challenges include embedding project champions, developing education materials, facilitating clinical innovation and quality monitoring tools, and altering reimbursement structures. Future work can build on these findings to develop context specific implementation strategies to guide translation of an automated approach to reanalysis to improve clinical care and patient outcomes.
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Registered trials
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