The road to the gold standard: whole genome sequencing in the clinic

Costs and time involved in generating whole genome sequences with next-generation technology are continually dropping, and in this regard are nearing feasibility in clinical settings. The most significant obstacles to clinical application now derive from the massive amounts of data generated by each genome sequenced. Storage, analysis and interpretation pose technical and knowledge-based challenges to researchers, who must also confront ethical, legal and social issues raised by mass (electronic) storage and sharing of inherently identifiable data. Medical genomics as a field is still new. There is a dearth of established standards for the return of results to clinicians and patients, and few evidence-based guidelines pertaining to most of the variants identified by whole genome sequencing (WGS). However, the ability to comprehensively identify all genomic variants holds thrilling opportunities for personalised medicine. Platforms to integrate patients’ clinical information with their genomic data are being developed and tested with promising results. The statistical power to associate genotypes with phenotypes and clinical outcomes continues to rise; initiatives like the UK’s 100,000 Genomes Project are paving the way for clinical adaptation. Currently, narrower targets than the whole genome are more feasible in the clinic, but there is a reasonable expectation that it will eventually become the ‘gold standard’ in personalised medicine.