Molecular diagnostics and ophthalmic pathology: Where are we up to?

Abstract

AbstractSurgical pathology is rapidly developing and evolving, with the incorporation of new technologies, which enable the pathologist to provide more accurate diagnoses as well as additional information that is important for treatment choices, response prediction and prognostication. The newer technologies encompass molecular pathology, digital pathology, as well as artificial intelligence, and can be applied on both tissue and liquid samples. Molecular pathology includes the application of a wide range of ‘omics – i.e. genomics, transcriptomics, proteomics, metabolomics etc. Multicentre collaborations have enabled the sequencing of the human genome, the development of the human protein atlas and the human metabolome database. These projects provide the basis of designing new molecular panels and tests to be used in routine pathology. In this lecture, I will take you through how molecular diagnostics have fast‐tracked ophthalmic pathology into an exciting new era of improved personalised medicine, and have enabled a better understanding of the pathogenesis of eye diseases – particularly eye tumours – and this, in turn, has allowed for the development of targeted treatments.