Emily A King, Fiona Lynch, Zornitza Stark, Danya F Vears
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引用次数: 0
Abstract
Automation of genomic data reanalysis can increase diagnostic rates in a timely and cost-effective manner. However, implementing automated reanalysis brings with it both ethical and practical challenges. We sought to explore how clinical and laboratory staff view these challenges as part of a broader study piloting automated genomic reanalysis. Focus groups were conducted with 21 genetics health professionals recruited from a previous survey and purposively sampled from clinical genetics diagnostics services and laboratories. Participants were supportive of automating reanalysis but discussed trust and accuracy, and emphasized the need for transparency, updated phenotypic information and human checking in an automated model. Legal versus moral obligation to return results when patients are unable to be recontacted was extensively discussed. Participants held concerns about a potential legal obligation to return results arising as reanalysis becomes routine and potential for impacts on workflow. A centralized system with national governance was proposed to ensure development and implementation of an equitable service and facilitate communication between patients and genetics services. However, this may be limited by existing infrastructure and the public’s perception of government services. In conclusion, participants in this study supported automated reanalysis, however issues regarding transparency, trust and accuracy will need to be systematically addressed to support implementation.
期刊介绍：
Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.
Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted.
The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.
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