ABSTRACT
This chapter examines the potential of whole exome sequencing (WES) in ending patients' long and arduous journey, known as the diagnostic odyssey, by describing the nature of the genomic healthcare team, highlighting WES successes through case studies, and discusses the benefits and limitations of genome and exome sequencing for patients. The primary care provider, specialist, and surgeon possesses novel clinical tools in the "omics" era, in which personalized medicine offers the necessary mechanisms to decipher intractable diagnostic dilemmas and possibly offer interventions to cure disease, as it did in the case of the Beery twins. Advances in sequencing technologies allow for the provision of genome-scale data to oncologists and geneticists caring for pediatric cancer patients. The goal of the BASIC3 (Baylor Advancing Sequencing into Childhood Cancer Care) study is to determine the clinical impact of incorporating Clinical Laboratory Improvement Amendments (CLIA)-certified tumor and constitutional exome sequencing into the care of children with newly diagnosed solid tumors.
