Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services.

Autor: Best S; Australian Genomics, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.; Victorian Comprehensive Cancer Centre Alliance, Melbourne, VIC, Australia., Fehlberg Z; Australian Genomics, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Richards C; Centre for Population Genomics, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Quinn MCJ; Australian Genomics, Melbourne, VIC, Australia.; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Lunke S; University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Kassahn KS; Adelaide Medical School, The University of Adelaide, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia., Vears DF; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Goranitis I; Australian Genomics, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia., Lynch F; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Robertson A; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia.; The Genomic Institute, Department of Health, Queensland Government, Brisbane, QLD, Australia., Tudini E; Australian Genomics, Melbourne, VIC, Australia.; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia., Christodoulou J; University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Scott H; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia., McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.; The University of Queensland, Brisbane, QLD, Australia., Stark Z; Australian Genomics, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.; University of Melbourne, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Nov; Vol. 32 (11), pp. 1428-1435. Date of Electronic Publication: 2024 May 25.
DOI: 10.1038/s41431-024-01633-8
Abstrakt: Reanalyzing stored genomic data over time is highly effective in increasing diagnostic yield in rare disease. Automation holds the promise of delivering the benefits of reanalysis at scale. Our study aimed to understand current reanalysis practices among Australian clinical and laboratory genetics services and explore attitudes towards large-scale automated re-analysis. We collected audit data regarding testing and reanalysis volumes, policies and procedures from all Australian diagnostic laboratories providing rare disease genomic testing. A genetic health professionals' survey explored current practices, barriers to reanalysis, preferences and attitudes towards automation. Between 2018 and 2021, Australian diagnostic laboratories performed over 25,000 new genomic tests and 950 reanalyses, predominantly in response to clinician requests. Laboratory and clinical genetic health professionals (N = 134) identified workforce capacity as the principal barrier to reanalysis. No specific laboratory or clinical guidelines for genomic data reanalysis or policies were identified nationally. Perceptions of acceptability and feasibility of automating reanalysis were positive, with professionals emphasizing clinical and workflow benefits. In conclusion, there is a large and rapidly growing unmet need for reanalysis of existing genomic data. Beyond developing scalable automated reanalysis pipelines, leadership and policy are needed to successfully transform service delivery models and maximize clinical benefit.
Competing Interests: Competing interests The authors declare no competing interests. Ethical approval The Royal Children’s Hospital Melbourne research office approved the workforce survey as a negligible risk project (QA/81406/RCHM-2021).
(© 2024. The Author(s).)
Databáze: MEDLINE
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