Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives

Abstract

The integration of whole genome sequencing (WGS) into all aspects of modern medicine represents the next step in the evolution of healthcare. Using this technology, scientists and physicians can observe the entire human genome comprehensively, generating a plethora of new sequencing data. Modern computational analysis entails advanced algorithms for variant detection, as well as complex models for classification. Data science and machine learning play a crucial role in the processing and interpretation of results, using enormous databases and statistics to discover new and support current genotype-phenotype correlations. In clinical practice, this technology has greatly enabled the development of personalized medicine, approaching each patient individually and in accordance with their genetic and biochemical profile. The most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, and infectious disease genomics. Another crucial application of WGS lies in the field of multi-omics, working towards the complete integration of human biomolecular data. Further technological development of sequencing technologies has led to the birth of third and fourth-generation sequencing, which include long-read sequencing, single-cell genomics, and nanopore sequencing. These technologies, alongside their continued implementation into medical research and practice, show great promise for the future of the field of medicine.

Keywords: cancer genomics; multi-omics integration; nanopore sequencing; next-generation sequencing; pharmacogenomics; third-generation sequencing; variant computational analysis; whole genome sequencing.

Figure 1

A comprehensive overview of the main aspects of WGS (created with Biorender.com). SNP—single nucleotide polymorphism; InDel—insertion and deletion; SV—structural variant; CNV—copy number variant; P—pathogenic variant; LP—likely pathogenic variant; VUS—variant of uncertain significance; LB—likely benign variant; B—benign variant, BLAST—Basic Local Alignment Search Tool; OLC—Overlap Layout Consensus.