Genomic testing: the clinical laboratory perspective

Abstract

The expansion of genetic testing in the clinical laboratory is well under way, with many clinically validated genetic tests already in use. As sequencing technology becomes more efficient and less costly, clinical laboratories will make the transition from single-gene testing to multigene panels. Early, more targeted applications will gradually be replaced by more comprehensive genomic offerings, including exome and whole-genome analysis. Despite significant technological advancements, many obstacles remain for full incorporation of whole-genome testing.