Advances in genomic testing

Advances in genomic technology and our understanding of Mendelian disease-causing genes have led to an increased use of genomic testing in clinical practice.

The aim of this paper is to outline recent advances in genetic and genomic testing and the implications for clinical practice.

Next-generation genomic sequencing is improving the diagnostic yield for patients with suspected genetic disease. A molecular diagnosis for a patient with genetic disease can provide information regarding a patient's prognosis, management and reproductive risk, and identify molecular targets for treatment. However, genomic testing frequently identifies variants of uncertain significance. This is illustrated by two case examples.