Dr. Rubin on Advantages With Whole-Exome Sequencing

Mark A. Rubin, MD, professor of Pathology and Laboratory Medicine, vice chairman for Experimental Pathology, director, Translational Research Laboratory Services, Weill Cornell Medicine and New-York Presbyterian, discusses the advantages of whole-exome sequencing and how it compares with targeted sequencing.

By using whole-exome sequencing, researchers are able to cover 20,000 genes and have the ability to detect neoantigens—two things that targeted sequencing does not offer, Rubin explains. Because tumors are sequenced in germline, researchers are also able to examine for risk factors in patients' germline DNA with whole-exome sequencing.

Targeted sequencing does still have a prominent role in early-stage cancer, Rubin adds. However, when patients have advanced disease and drug resistance, whole-exome sequencing provides a better platform to understand this resistance.