Understanding recent advances in genomic testing in paediatric oncology

Abstract

Advancements in genomics have had a significant impact on our ability to diagnose and treat several health conditions, notably cancer. In this article, we discuss the evolution of genomic methods from the early first-generation genome sequencing methods such as Sanger sequencing to the latest technology. We also discuss how clinicians can decide which test to use depending on what type of result is required. We discuss the clinical significance of genomic testing including identification of cancer predispositions syndromes, the role of genomics in accurately diagnosing a number of cancers, as well as the utility of genomic data to predict response to targeted therapies. Finally, we detail some of the targeted therapies currently available to treat the various types of childhood cancers. The expansion of genomic testing within the NHS and the essential nature of genomic data to accurately diagnose and optimally treat childhood cancers also poses challenges to the healthcare system both in terms of infrastructure and personnel.