Whole genome sequencing in clinical practice

Whole genome sequencing in clinical practice

(2024) 17:39 | Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama and Finn Cilius Nielsen
Whole genome sequencing (WGS) is increasingly used for molecular genetic diagnosis of rare and unknown diseases and for identifying actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variation and eliminates the need for sequential genetic testing. While the laboratory requirements are similar to conventional molecular genetics, WGS generates a large amount of data, necessitating a comprehensive computational and storage infrastructure to facilitate data processing within a clinically relevant timeframe. A single WGS analysis produces approximately 5 million variants, and data interpretation involves specialized staff collaborating with clinical specialists to provide standard of care reports. Despite ongoing efforts to refine variant classification standards, unresolved issues remain in the clinical application of WGS. This review provides an overview of WGS in clinical practice, describing the technology, current applications, and challenges related to data processing, interpretation, and clinical reporting. The review also discusses the ethical concerns and future directions of WGS in healthcare.Whole genome sequencing (WGS) is increasingly used for molecular genetic diagnosis of rare and unknown diseases and for identifying actionable cancer drivers. Compared to other molecular genetic methods, WGS captures most genomic variation and eliminates the need for sequential genetic testing. While the laboratory requirements are similar to conventional molecular genetics, WGS generates a large amount of data, necessitating a comprehensive computational and storage infrastructure to facilitate data processing within a clinically relevant timeframe. A single WGS analysis produces approximately 5 million variants, and data interpretation involves specialized staff collaborating with clinical specialists to provide standard of care reports. Despite ongoing efforts to refine variant classification standards, unresolved issues remain in the clinical application of WGS. This review provides an overview of WGS in clinical practice, describing the technology, current applications, and challenges related to data processing, interpretation, and clinical reporting. The review also discusses the ethical concerns and future directions of WGS in healthcare.
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