Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study

Fehlberg, Z; Stark, Z; Best, S

Author(s): Fehlberg, Z; Stark, Z; Best, S;
Details: Publication Year 2024-05,Volume 32,Issue #5,Page 521-528
Journal Title: European Journal of Human Genetics
Publication Type: Research article
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.
Publisher: Springer Nature
Keywords: Humans; *Genomics/methods/standards; Qualitative Research; Genetic Testing/standards/methods; Australia; Automation
Department(s): Health Services Research
Publisher's Version: https://doi.org/10.1038/s41431-023-01532-4
Open Access at Publisher's Site: https://doi.org/10.1038/s41431-023-01532-4
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2024-07-09 04:13:24

Last Modified: 2024-07-09 04:14:11