Genomic sequencing in clinical practice: applications, challenges, and opportunities

Abstract

The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screening for prenatal aneuploidy. Emerging applications, such as GS for preconception carrier screening and predisposition screening in healthy individuals, are being explored in research settings and utilized by members of the public eager to incorporate genomic information into their health management. The rapid pace of adoption has created challenges for all stakeholders in clinical GS, from standardizing variant interpretation approaches in clinical molecular laboratories to ensuring that nongeneticist clinicians are prepared for new types of clinical information. Clinical GS faces a pivotal moment, as the vast potential of new quantities and types of data enable further clinical innovation and complicated implementation questions continue to be resolved.

Keywords: clinical genomics; exome sequencing; genome sequencing; genomic sequencing; medical genomics.

Figure 1.. Genomic sequencing use cases and suggested levels of evidence to demonstrate clinical utility. GS, genomic sequencing; PGx, pharmacogenomics. Adapted from ref 59: Delaney SK, Hultner ML, Jacob HJ, et al. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016;16(5):521-532. Copyright © Future Drugs, Ltd, 2016

Figure 2.. A schematic of the workflow of clinical genomic sequencing.

Figure 3.. Example of a MedSeq Genome Report (first page only).